Incidental Mutation 'R2378:Msh4'
ID 248344
Institutional Source Beutler Lab
Gene Symbol Msh4
Ensembl Gene ENSMUSG00000005493
Gene Name mutS homolog 4
Synonyms mMsh4, 4930485C04Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.562) question?
Stock # R2378 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 153562783-153611495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153569114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 732 (C732R)
Ref Sequence ENSEMBL: ENSMUSP00000140190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000188338] [ENSMUST00000190449]
AlphaFold Q99MT2
Predicted Effect probably damaging
Transcript: ENSMUST00000005630
AA Change: C820R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: C820R

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 noncoding transcript
Transcript: ENSMUST00000158139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186220
Predicted Effect probably damaging
Transcript: ENSMUST00000188338
AA Change: C732R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: C732R

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 noncoding transcript
Transcript: ENSMUST00000189189
Predicted Effect probably damaging
Transcript: ENSMUST00000190449
AA Change: C626R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: C626R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191606
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.1%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AK157302 T C 13: 21,679,732 (GRCm39) I86T possibly damaging Het
Akr1cl A T 1: 65,061,147 (GRCm39) M124K probably benign Het
Asap2 T C 12: 21,304,319 (GRCm39) L745P possibly damaging Het
B3gnt9 G A 8: 105,981,116 (GRCm39) R91C probably damaging Het
Capg C T 6: 72,532,474 (GRCm39) P13L probably benign Het
Eif3c C T 7: 126,151,497 (GRCm39) R609H probably damaging Het
Ephb3 A G 16: 21,036,993 (GRCm39) H152R probably benign Het
Gbp9 T C 5: 105,228,042 (GRCm39) D580G probably benign Het
Iars2 A G 1: 185,059,918 (GRCm39) Y97H probably damaging Het
Ip6k2 A G 9: 108,673,500 (GRCm39) probably null Het
Itih2 T A 2: 10,099,698 (GRCm39) D907V probably damaging Het
Lrrc37 A G 11: 103,510,537 (GRCm39) probably benign Het
Mtss2 T C 8: 111,464,981 (GRCm39) F474L probably damaging Het
Nbeal2 T C 9: 110,459,876 (GRCm39) E1175G probably damaging Het
Pgm3 A T 9: 86,444,720 (GRCm39) C272S probably damaging Het
R3hcc1l T A 19: 42,551,912 (GRCm39) I303N probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spsb3 A G 17: 25,105,924 (GRCm39) probably benign Het
Tgfbr2 G A 9: 115,959,018 (GRCm39) T132I probably benign Het
Tpp2 A T 1: 44,038,925 (GRCm39) E223V probably damaging Het
Ttn T A 2: 76,719,794 (GRCm39) probably benign Het
Vmn2r102 T G 17: 19,914,930 (GRCm39) L832V probably damaging 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
R0368:Msh4 UTSW 3 153,594,462 (GRCm39) missense probably damaging 1.00
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
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'- ACACGCATTGTTTTGAGGTC -3'
(R):5'- AGAGTTGACACATGCACATTGG -3'

Sequencing Primer
(F):5'- GTCCCCTGGAAAGTTTGT -3'
(R):5'- GAACATGTCCATCTCTGAGATACTGG -3'
Posted On 2014-11-11