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    Msh5 mutS homolog 5 [ Mus musculus (house mouse) ]

    Gene ID: 17687, updated on 2-Oct-2018

    Summary

    Official Symbol
    Msh5provided by MGI
    Official Full Name
    mutS homolog 5provided by MGI
    Primary source
    MGI:MGI:1329021
    See related
    Ensembl:ENSMUSG00000007035 Vega:OTTMUSG00000037144
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mut5
    Summary
    This gene encodes a member of the MutS family of proteins that play critical roles in DNA mismatch repair and meiotic homologous recombination processes. Mice lacking the encoded protein are viable but sterile, with severe defects in spermatogenesis in males and complete loss of ovarian structures in females. Mutations in a similar gene in humans have been shown to cause common variable immune deficiency (CVID) and immunoglobulin A deficiency. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in testis adult (RPKM 3.5), liver E18 (RPKM 1.6) and 26 other tissues See more
    Orthologs

    Genomic context

    See Msh5 in Genome Data Viewer
    Location:
    17 B1; 17 18.57 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 17 NC_000083.6 (35028605..35048865, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (35165550..35183668, complement)

    Chromosome 17 - NC_000083.6Genomic Context describing neighboring genes Neighboring gene valyl-tRNA synthetase Neighboring gene von Willebrand factor A domain containing 7 Neighboring gene suppressor APC domain containing 1 Neighboring gene chloride intracellular channel 1 Neighboring gene dimethylarginine dimethylaminohydrolase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-dependent ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to guanine/thymine mispair binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to single thymine insertion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    chiasma assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    female gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    homologous chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    meiosis I IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synapsis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    synaptonemal complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mutS protein homolog 5
    Names
    DNA mismatch repair protein Msh5

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001146215.2NP_001139687.1  mutS protein homolog 5

      See identical proteins and their annotated locations for NP_001139687.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087117
      Consensus CDS
      CCDS28674.1
      UniProtKB/Swiss-Prot
      Q9QUM7
      UniProtKB/TrEMBL
      A0A0R4IZY8
      Related
      ENSMUSP00000094951.4, OTTMUSP00000053378, ENSMUST00000097338.10, OTTMUST00000095662
      Conserved Domains (5) summary
      cd03281
      Location:556762
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:252568
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:252389
      MutS_III; MutS domain III
      pfam11369
      Location:65149
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:397495
      MutS_III; MutS domain III
    2. NM_013600.3NP_038628.2  mutS protein homolog 5

      See identical proteins and their annotated locations for NP_038628.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087117
      Consensus CDS
      CCDS28674.1
      UniProtKB/Swiss-Prot
      Q9QUM7
      UniProtKB/TrEMBL
      A0A0R4IZY8
      Related
      ENSMUSP00000007250.7, OTTMUSP00000053377, ENSMUST00000007250.13, OTTMUST00000095661
      Conserved Domains (5) summary
      cd03281
      Location:556762
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:252568
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:252389
      MutS_III; MutS domain III
      pfam11369
      Location:65149
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:397495
      MutS_III; MutS domain III

    RNA

    1. NR_130640.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087117
      Related
      ENSMUST00000174603.7, OTTMUST00000095664
    2. NR_130641.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087117
      Related
      ENSMUST00000172536.1, OTTMUST00000095665

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000083.6 Reference GRCm38.p4 C57BL/6J

      Range
      35028605..35048865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317278.1XP_017172767.1  mutS protein homolog 5 isoform X1

    2. XM_006523771.3XP_006523834.1  mutS protein homolog 5 isoform X5

      See identical proteins and their annotated locations for XP_006523834.1

      Conserved Domains (5) summary
      cd03281
      Location:546752
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:242558
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:242367
      MutS_III; MutS domain III
      pfam11369
      Location:55139
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:387485
      MutS_III; MutS domain III
    3. XM_017317281.1XP_017172770.1  mutS protein homolog 5 isoform X7

    4. XM_017317284.1XP_017172773.1  mutS protein homolog 5 isoform X10

    5. XM_017317280.1XP_017172769.1  mutS protein homolog 5 isoform X6

    6. XM_017317283.1XP_017172772.1  mutS protein homolog 5 isoform X9

    7. XM_017317282.1XP_017172771.1  mutS protein homolog 5 isoform X8

    8. XM_017317279.1XP_017172768.1  mutS protein homolog 5 isoform X2

    9. XM_017317285.1XP_017172774.1  mutS protein homolog 5 isoform X12

    10. XM_006523780.3XP_006523843.1  mutS protein homolog 5 isoform X13

      See identical proteins and their annotated locations for XP_006523843.1

      Conserved Domains (4) summary
      cd03281
      Location:399605
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:95411
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:95220
      MutS_III; MutS domain III
      cl17822
      Location:240338
      MutS_III; MutS domain III
    11. XM_006523770.1XP_006523833.1  mutS protein homolog 5 isoform X4

      See identical proteins and their annotated locations for XP_006523833.1

      Conserved Domains (5) summary
      cd03281
      Location:552758
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:248564
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:248385
      MutS_III; MutS domain III
      pfam11369
      Location:61145
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:393491
      MutS_III; MutS domain III
    12. XM_006523778.1XP_006523841.1  mutS protein homolog 5 isoform X11

      See identical proteins and their annotated locations for XP_006523841.1

      Conserved Domains (4) summary
      cd03281
      Location:508714
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:204520
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:204341
      MutS_III; MutS domain III
      cl17822
      Location:349447
      MutS_III; MutS domain III
    13. XM_011246314.1XP_011244616.1  mutS protein homolog 5 isoform X3

      See identical proteins and their annotated locations for XP_011244616.1

      Conserved Domains (5) summary
      cd03281
      Location:555761
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:252567
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:252381
      MutS_III; MutS domain III
      pfam11369
      Location:65149
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:396494
      MutS_III; MutS domain III
    14. XM_017317286.1XP_017172775.1  mutS protein homolog 5 isoform X14

    15. XM_017317289.1XP_017172778.1  mutS protein homolog 5 isoform X15

    16. XM_017317288.1XP_017172777.1  mutS protein homolog 5 isoform X15

    17. XM_017317290.1XP_017172779.1  mutS protein homolog 5 isoform X15

    RNA

    1. XR_001782050.1 RNA Sequence

    2. XR_001782053.1 RNA Sequence

    3. XR_001782049.1 RNA Sequence

    4. XR_001782054.1 RNA Sequence

    5. XR_001782051.1 RNA Sequence

    6. XR_001782052.1 RNA Sequence

    Reference GRCm38.p4 129X1/SvJ

    Genomic

    1. NT_039662.3 Reference GRCm38.p4 129X1/SvJ

      Range
      1278298..1296438 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCm38.p4 NOD/MrkTac

    Genomic

    1. NT_187027.1 Reference GRCm38.p4 NOD/MrkTac

      Range
      1346771..1364911 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCm38.p4 NOD/ShiLtJ

    Genomic

    1. NT_187004.1 Reference GRCm38.p4 NOD/ShiLtJ

      Range
      1347010..1365150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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