Incidental Mutation 'R0368:Msh4'
ID 30313
Institutional Source Beutler Lab
Gene Symbol Msh4
Ensembl Gene ENSMUSG00000005493
Gene Name mutS homolog 4
Synonyms mMsh4, 4930485C04Rik
MMRRC Submission 038574-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.562) question?
Stock # R0368 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 153562783-153611495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153594462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 113 (Y113F)
Ref Sequence ENSEMBL: ENSMUSP00000140265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000188338] [ENSMUST00000190449]
AlphaFold Q99MT2
Predicted Effect probably damaging
Transcript: ENSMUST00000005630
AA Change: Y307F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: Y307F

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:MutS_II 177 321 2.3e-20 PFAM
MUTSd 352 679 3.77e-37 SMART
MUTSac 695 888 1.6e-81 SMART
Blast:MUTSac 912 956 1e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000188338
AA Change: Y219F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: Y219F

DomainStartEndE-ValueType
Pfam:MutS_II 89 233 5.3e-19 PFAM
MUTSd 264 591 9.4e-40 SMART
MUTSac 607 800 4.2e-84 SMART
Blast:MUTSac 808 866 4e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000190449
AA Change: Y113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: Y113F

DomainStartEndE-ValueType
Pfam:MutS_II 1 127 3.3e-15 PFAM
MUTSd 158 485 9.4e-40 SMART
MUTSac 501 694 4.2e-84 SMART
Blast:MUTSac 702 760 5e-17 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype 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
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,985,714 (GRCm39) K2333* probably null Het
Aox4 C T 1: 58,252,238 (GRCm39) L38F probably benign Het
Arhgef15 T C 11: 68,845,519 (GRCm39) E111G probably damaging Het
Atp8a2 A T 14: 60,097,661 (GRCm39) I789N probably damaging Het
Cdca2 A G 14: 67,937,796 (GRCm39) S286P possibly damaging Het
Chrnb1 T A 11: 69,675,583 (GRCm39) K457M probably damaging Het
Cimip2a T A 2: 25,110,685 (GRCm39) D164E probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Cyb5r3 G A 15: 83,042,993 (GRCm39) A233V probably benign Het
Cyp4a10 T A 4: 115,382,574 (GRCm39) L278* probably null Het
Dnmt1 T C 9: 20,853,053 (GRCm39) E56G probably damaging Het
Fbln5 A G 12: 101,775,973 (GRCm39) probably null Het
Fhip2a A G 19: 57,357,010 (GRCm39) T34A possibly damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabrr3 A G 16: 59,260,959 (GRCm39) D289G probably damaging Het
Gpr45 T C 1: 43,072,176 (GRCm39) L273P probably damaging Het
Hkdc1 T C 10: 62,247,486 (GRCm39) E125G probably null Het
Il25 A G 14: 55,172,631 (GRCm39) probably null Het
Itfg1 A T 8: 86,491,036 (GRCm39) W298R probably damaging Het
Kank1 A T 19: 25,387,967 (GRCm39) K547* probably null Het
Lama5 G A 2: 179,823,023 (GRCm39) R2748* probably null Het
Lrp4 C T 2: 91,308,079 (GRCm39) T508I probably damaging Het
Map3k10 C T 7: 27,362,785 (GRCm39) V434I probably damaging Het
Map3k6 A G 4: 132,979,970 (GRCm39) M1265V probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nrip1 A G 16: 76,090,904 (GRCm39) S218P probably damaging Het
Olig1 C T 16: 91,067,540 (GRCm39) S259F probably damaging Het
Or4k37 T C 2: 111,159,132 (GRCm39) Y123H probably damaging Het
Or4k41 T C 2: 111,280,133 (GRCm39) I216T probably benign Het
Osbpl9 A G 4: 108,924,129 (GRCm39) V499A probably damaging Het
Pafah2 T C 4: 134,149,802 (GRCm39) V371A probably benign Het
Pkp1 T A 1: 135,803,421 (GRCm39) M712L probably benign Het
Pkp1 T C 1: 135,814,590 (GRCm39) S244G probably benign Het
Ppp1r3a T C 6: 14,718,959 (GRCm39) T652A probably benign Het
Rab21 A T 10: 115,134,795 (GRCm39) V108E probably damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sema5b T A 16: 35,448,470 (GRCm39) V82E probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Slc13a2 A T 11: 78,295,626 (GRCm39) L80* probably null Het
Slc1a5 C T 7: 16,516,103 (GRCm39) P93L probably damaging Het
Slc35b2 T C 17: 45,877,389 (GRCm39) V172A probably benign Het
Slfn8 A G 11: 82,907,958 (GRCm39) L195P probably damaging Het
Smox G A 2: 131,364,078 (GRCm39) S320N probably damaging Het
Sptan1 T C 2: 29,883,927 (GRCm39) V589A probably benign Het
Stim2 G A 5: 54,267,482 (GRCm39) probably null Het
V1ra8 A G 6: 90,179,944 (GRCm39) D49G probably damaging Het
Vmn1r233 A T 17: 21,214,869 (GRCm39) V27D possibly damaging Het
Vmn2r98 A T 17: 19,286,089 (GRCm39) K196* probably null Het
Wdr77 T C 3: 105,869,382 (GRCm39) probably null Het
Other mutations in Msh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Msh4 APN 3 153,589,372 (GRCm39) missense possibly damaging 0.88
IGL01098:Msh4 APN 3 153,583,619 (GRCm39) splice site probably benign
IGL01609:Msh4 APN 3 153,603,034 (GRCm39) missense probably damaging 1.00
IGL01785:Msh4 APN 3 153,563,144 (GRCm39) missense probably damaging 1.00
IGL01939:Msh4 APN 3 153,563,226 (GRCm39) missense probably damaging 1.00
IGL02022:Msh4 APN 3 153,592,593 (GRCm39) missense probably damaging 1.00
IGL02209:Msh4 APN 3 153,594,499 (GRCm39) missense probably damaging 1.00
IGL02224:Msh4 APN 3 153,595,822 (GRCm39) missense possibly damaging 0.94
IGL02240:Msh4 APN 3 153,579,311 (GRCm39) missense probably damaging 0.98
IGL02493:Msh4 APN 3 153,583,545 (GRCm39) critical splice donor site probably null
IGL02576:Msh4 APN 3 153,573,383 (GRCm39) missense probably damaging 1.00
IGL02616:Msh4 APN 3 153,563,160 (GRCm39) missense probably benign
IGL02812:Msh4 APN 3 153,607,037 (GRCm39) splice site probably benign
IGL02888:Msh4 APN 3 153,602,550 (GRCm39) nonsense probably null
IGL02992:Msh4 APN 3 153,577,962 (GRCm39) missense possibly damaging 0.79
IGL03191:Msh4 APN 3 153,575,245 (GRCm39) missense probably damaging 0.97
P0021:Msh4 UTSW 3 153,594,455 (GRCm39) missense probably damaging 1.00
R0057:Msh4 UTSW 3 153,575,318 (GRCm39) missense probably benign 0.16
R0057:Msh4 UTSW 3 153,575,318 (GRCm39) missense probably benign 0.16
R0377:Msh4 UTSW 3 153,602,527 (GRCm39) missense probably benign 0.00
R0631:Msh4 UTSW 3 153,572,057 (GRCm39) missense probably benign 0.02
R0632:Msh4 UTSW 3 153,602,532 (GRCm39) missense probably damaging 1.00
R0677:Msh4 UTSW 3 153,585,004 (GRCm39) missense possibly damaging 0.69
R0909:Msh4 UTSW 3 153,569,141 (GRCm39) missense probably benign 0.00
R1081:Msh4 UTSW 3 153,577,995 (GRCm39) missense probably benign 0.06
R1463:Msh4 UTSW 3 153,563,207 (GRCm39) missense probably damaging 1.00
R1476:Msh4 UTSW 3 153,569,021 (GRCm39) missense probably damaging 1.00
R1669:Msh4 UTSW 3 153,582,357 (GRCm39) missense possibly damaging 0.47
R1733:Msh4 UTSW 3 153,573,404 (GRCm39) missense probably damaging 1.00
R1859:Msh4 UTSW 3 153,611,517 (GRCm39) missense probably benign
R2168:Msh4 UTSW 3 153,573,472 (GRCm39) nonsense probably null
R2378:Msh4 UTSW 3 153,569,114 (GRCm39) missense probably damaging 0.99
R2991:Msh4 UTSW 3 153,611,497 (GRCm39) missense probably benign
R3025:Msh4 UTSW 3 153,569,128 (GRCm39) missense probably damaging 1.00
R4604:Msh4 UTSW 3 153,577,920 (GRCm39) missense probably damaging 1.00
R4757:Msh4 UTSW 3 153,585,024 (GRCm39) missense probably damaging 0.99
R5205:Msh4 UTSW 3 153,572,049 (GRCm39) missense probably damaging 1.00
R5285:Msh4 UTSW 3 153,579,350 (GRCm39) missense probably benign 0.03
R5766:Msh4 UTSW 3 153,573,477 (GRCm39) missense probably damaging 1.00
R5777:Msh4 UTSW 3 153,569,076 (GRCm39) missense probably benign 0.01
R5888:Msh4 UTSW 3 153,573,360 (GRCm39) critical splice donor site probably null
R7384:Msh4 UTSW 3 153,594,385 (GRCm39) missense probably benign 0.23
R7408:Msh4 UTSW 3 153,582,382 (GRCm39) missense probably benign 0.06
R7487:Msh4 UTSW 3 153,569,147 (GRCm39) missense probably damaging 1.00
R7503:Msh4 UTSW 3 153,573,387 (GRCm39) missense probably damaging 1.00
R7726:Msh4 UTSW 3 153,571,957 (GRCm39) critical splice donor site probably null
R7990:Msh4 UTSW 3 153,602,529 (GRCm39) missense probably damaging 1.00
R8097:Msh4 UTSW 3 153,583,545 (GRCm39) critical splice donor site probably null
R8805:Msh4 UTSW 3 153,563,270 (GRCm39) missense probably benign 0.00
R8814:Msh4 UTSW 3 153,577,957 (GRCm39) missense probably damaging 1.00
R8861:Msh4 UTSW 3 153,607,105 (GRCm39) missense probably benign 0.04
R8970:Msh4 UTSW 3 153,575,369 (GRCm39) nonsense probably null
R9010:Msh4 UTSW 3 153,595,819 (GRCm39) missense probably benign 0.30
R9338:Msh4 UTSW 3 153,573,444 (GRCm39) missense possibly damaging 0.55
R9598:Msh4 UTSW 3 153,607,148 (GRCm39) missense possibly damaging 0.93
R9780:Msh4 UTSW 3 153,582,342 (GRCm39) missense probably damaging 1.00
Z1177:Msh4 UTSW 3 153,607,080 (GRCm39) start gained probably benign
Z1177:Msh4 UTSW 3 153,585,005 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACTTCAGAAACAACACGGCGATG -3'
(R):5'- AAGTGACAGACTTCCAAGGCTGC -3'

Sequencing Primer
(F):5'- CAACACGGCGATGATTTAAGTG -3'
(R):5'- tggaaggatgatgctcaagg -3'
Posted On 2013-04-24