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    Msh4 mutS homolog 4 [ Mus musculus (house mouse) ]

    Gene ID: 55993, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Msh4provided by MGI
    Official Full Name
    mutS homolog 4provided by MGI
    Primary source
    MGI:MGI:1860077
    See related
    Ensembl:ENSMUSG00000005493 AllianceGenome:MGI:1860077
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mMsh4; 4930485C04Rik
    Summary
    Predicted to enable double-stranded DNA binding activity. Acts upstream of or within several processes, including homologous chromosome pairing at meiosis; ovarian follicle development; and spermatogenesis. Located in recombination nodule and synaptonemal complex. Is expressed in several structures, including brain; gonad; heart; and thymus. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and spermatogenic failure 2. Orthologous to human MSH4 (mutS homolog 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 2.5) and ovary adult (RPKM 0.1) See more
    Orthologs
    human all
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    Genomic context

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    See Msh4 in Genome Data Viewer
    Location:
    3 H3; 3 78.7 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (153562783..153611495, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (153857141..153906138, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25757 Neighboring gene ankyrin repeat and SOCS box-containing 17 Neighboring gene ankyrin repeat and SOCS box-containing 17, opposite strand Neighboring gene predicted gene, 24395 Neighboring gene Rab geranylgeranyl transferase, b subunit Neighboring gene small nucleolar RNA, C/D box 45B Neighboring gene predicted gene, 24494

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mouse MutS homolog 4 is predominantly expressed in testis and interacts with MutS homolog 5. Her C, et al. Mamm Genome, 2001 Jan. PMID 11178747
    2. Family of SRY/Sox proteins is involved in the regulation of the mouse Msh4 (MutS Homolog 4) gene expression. Santucci-Darmanin S, et al. Mol Reprod Dev, 2001 Oct. PMID 11553915
    3. Genomic organization of the mouse Msh4 gene producing bicistronic, chimeric and antisense mRNA. Hirano M, et al. Gene, 2004 Nov 10. PMID 15527976
    4. Impeding DNA Break Repair Enables Oocyte Quality Control. Qiao H, et al. Mol Cell, 2018 Oct 18. PMID 30270110, Free PMC Article
    5. Role for Msh5 in the regulation of Ig class switch recombination. Sekine H, et al. Proc Natl Acad Sci U S A, 2007 Apr 24. PMID 17409188, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study suggests that the dynamic interchromosomal (intergenic) trans-splicing generates functional diversity of the mouse Msh4 gene.
      Title: Genomic organization of the mouse Msh4 gene producing bicistronic, chimeric and antisense mRNA.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within female gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within meiotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within meiotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mismatch repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within ovarian follicle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in condensed chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in recombination nodule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptonemal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptonemal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mutS protein homolog 4
    Names
    MutS homolog 4 variant iota 1
    MutS homolog 4 variant theta 1

    NCBI Reference Sequences (RefSeq)

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    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_001282054.2 → NP_001268983.1  mutS protein homolog 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC087184
      Consensus CDS
      CCDS80067.1
      UniProtKB/TrEMBL
      A0A087WQG8, A0A087WQN0
      Related
      ENSMUSP00000140265.2, ENSMUST00000190449.2
      Conserved Domains (5) summary
      smart00533
      Location:162 → 484
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:463 → 699
      MutS_V; MutS domain V
      pfam05188
      Location:1 → 121
      MutS_II; MutS domain II
      pfam05190
      Location:321 → 415
      MutS_IV; MutS family domain IV
      pfam05192
      Location:143 → 228
      MutS_III; MutS domain III

    2. NM_031870.4 → NP_114076.2  mutS protein homolog 4 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC087184
      Consensus CDS
      CCDS38678.1
      UniProtKB/Swiss-Prot
      Q920J1, Q99MT2
      UniProtKB/TrEMBL
      A6H6D5
      Related
      ENSMUSP00000005630.5, ENSMUST00000005630.11

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      153562783..153611495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99MT2.1 GenPept UniProtKB/Swiss-Prot:Q99MT2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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