|Institutional Source||Beutler Lab|
|Gene Name||mutS homolog 4|
|Is this an essential gene?||Possibly essential (E-score: 0.630)|
|Stock #||R7726 (G1)|
|Chromosomal Location||153857149-153906138 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 153866320 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000005630 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000188338] [ENSMUST00000190449]|
|Meta Mutation Damage Score||0.9490|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msh4||
(F):5'- CTCATCTATATCCTGTATGCACAAC -3'
(R):5'- ACAGCATTGCTTGGGTATAATG -3'
(F):5'- CTGGAACTCATTCTGTAGACCAGG -3'
(R):5'- CAGCATTGCTTGGGTATAATGAATAG -3'