Incidental Mutation 'R1859:Msh4'
ID 204196
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: 0.507) question?
Stock # R1859 (G1)
Quality Score 124
Status Not validated
Chromosome 3
Chromosomal Location 153562783-153611495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 153611517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 35 (H35Q)
Ref Sequence ENSEMBL: ENSMUSP00000005630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000089950] [ENSMUST00000167111] [ENSMUST00000188338] [ENSMUST00000190449] [ENSMUST00000196266] [ENSMUST00000200631] [ENSMUST00000196956] [ENSMUST00000197438] [ENSMUST00000200209] [ENSMUST00000196565]
AlphaFold Q99MT2
Predicted Effect probably benign
Transcript: ENSMUST00000005630
AA Change: H35Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: H35Q

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: ENSMUST00000082797
Predicted Effect probably benign
Transcript: ENSMUST00000089950
SMART Domains Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 66 109 3e-11 PFAM
Pfam:Prenyltrans_2 72 183 1.1e-19 PFAM
Pfam:Prenyltrans 114 157 2.2e-14 PFAM
Pfam:Prenyltrans_1 116 214 1.7e-9 PFAM
Pfam:Prenyltrans 162 205 8.1e-18 PFAM
Pfam:Prenyltrans 210 253 3.1e-15 PFAM
Pfam:Prenyltrans 258 302 3.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167111
SMART Domains Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 117 5.9e-12 PFAM
Pfam:Prenyltrans 122 165 8.4e-15 PFAM
Pfam:Prenyltrans 170 213 2.2e-18 PFAM
Pfam:Prenyltrans 218 261 1.2e-15 PFAM
Pfam:Prenyltrans 266 310 2.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188338
SMART Domains Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493

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 benign
Transcript: ENSMUST00000190449
SMART Domains Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493

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 probably benign
Transcript: ENSMUST00000196266
SMART Domains Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans_2 32 143 9e-10 PFAM
Pfam:Prenyltrans 74 117 8.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200631
SMART Domains Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 112 5.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196956
SMART Domains Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 117 2e-9 PFAM
Pfam:Prenyltrans_2 80 191 3.8e-18 PFAM
Pfam:Prenyltrans 122 165 1.4e-12 PFAM
Pfam:Prenyltrans_1 124 202 4.8e-7 PFAM
Pfam:Prenyltrans 170 201 9.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198094
Predicted Effect probably benign
Transcript: ENSMUST00000197438
SMART Domains Protein: ENSMUSP00000143551
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans 74 112 1.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198350
Predicted Effect probably benign
Transcript: ENSMUST00000200209
SMART Domains Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
Pfam:Prenyltrans_2 32 143 9e-10 PFAM
Pfam:Prenyltrans 74 117 8.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197829
Predicted Effect probably benign
Transcript: ENSMUST00000196565
SMART Domains Protein: ENSMUSP00000143258
Gene: ENSMUSG00000038975

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,637,268 (GRCm39) probably benign Het
Adcy10 A G 1: 165,349,530 (GRCm39) E467G probably damaging Het
Alkbh8 A G 9: 3,385,499 (GRCm39) D597G probably benign Het
Alpk1 T A 3: 127,474,749 (GRCm39) H418L possibly damaging Het
Ano5 G T 7: 51,196,581 (GRCm39) V138L probably damaging Het
Aspg T A 12: 112,087,606 (GRCm39) I319K possibly damaging Het
Atp9b T C 18: 80,793,135 (GRCm39) T970A possibly damaging Het
Brd10 A C 19: 29,732,323 (GRCm39) C230G possibly damaging Het
C4b T A 17: 34,954,527 (GRCm39) M881L probably benign Het
Cd209c A T 8: 3,994,953 (GRCm39) N70K probably benign Het
Cdca5 T C 19: 6,140,124 (GRCm39) V95A possibly damaging Het
Cds2 A G 2: 132,144,115 (GRCm39) Y297C probably damaging Het
Celsr2 C T 3: 108,303,946 (GRCm39) G2371S probably damaging Het
Cemip2 T C 19: 21,825,341 (GRCm39) V1213A possibly damaging Het
Chd5 T A 4: 152,464,980 (GRCm39) I1557N probably benign Het
Cntn5 C T 9: 9,972,839 (GRCm39) E266K probably damaging Het
Crtam G A 9: 40,884,900 (GRCm39) T363M possibly damaging Het
Dnah2 A G 11: 69,328,712 (GRCm39) S3298P probably damaging Het
Dok1 A T 6: 83,009,226 (GRCm39) Y209N probably damaging Het
Dpp10 T C 1: 123,281,333 (GRCm39) D561G possibly damaging Het
Drosha A G 15: 12,878,804 (GRCm39) K710R probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Ercc6 T C 14: 32,248,735 (GRCm39) S429P probably damaging Het
Fam135a A T 1: 24,069,306 (GRCm39) V521E probably damaging Het
Fbxl7 A T 15: 26,543,279 (GRCm39) L456Q probably damaging Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Foxc2 G T 8: 121,843,364 (GRCm39) R4L probably damaging Het
Glyctk C T 9: 106,034,731 (GRCm39) V112I probably benign Het
Guf1 G T 5: 69,725,803 (GRCm39) G481* probably null Het
Heatr1 T C 13: 12,418,040 (GRCm39) L324S probably damaging Het
Hectd1 A G 12: 51,853,350 (GRCm39) L57P probably damaging Het
Hmcn1 A T 1: 150,532,944 (GRCm39) C3080S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1 T A 19: 34,624,944 (GRCm39) F27I probably benign Het
Ift20 G T 11: 78,430,860 (GRCm39) E68* probably null Het
Itsn1 A G 16: 91,686,042 (GRCm39) probably benign Het
Ksr2 T A 5: 117,553,006 (GRCm39) L38Q probably damaging Het
Lama2 A T 10: 26,907,078 (GRCm39) M2361K possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k9 A T 12: 81,771,256 (GRCm39) S800R possibly damaging Het
Mef2a A G 7: 66,915,766 (GRCm39) S179P probably damaging Het
Micall1 A G 15: 79,007,145 (GRCm39) probably benign Het
Mpg A G 11: 32,181,957 (GRCm39) probably null Het
Mpp7 A T 18: 7,350,967 (GRCm39) *577K probably null Het
Mst1 G A 9: 107,961,545 (GRCm39) V601I probably benign Het
Myh10 T A 11: 68,636,239 (GRCm39) N246K probably benign Het
Myom3 C A 4: 135,506,707 (GRCm39) N493K probably benign Het
Mypn T C 10: 62,981,969 (GRCm39) D537G probably benign Het
Ncan A T 8: 70,567,998 (GRCm39) M38K possibly damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Nos1 A T 5: 118,043,527 (GRCm39) N601Y possibly damaging Het
Nrxn2 G A 19: 6,538,825 (GRCm39) V794I probably benign Het
Or10q12 T A 19: 13,746,088 (GRCm39) Y127* probably null Het
Or13a17 T A 7: 140,271,571 (GRCm39) V251E possibly damaging Het
Or13c7b A T 4: 43,820,779 (GRCm39) I194N possibly damaging Het
Or2y17 T C 11: 49,232,211 (GRCm39) L284P probably damaging Het
Or8h9 T C 2: 86,789,425 (GRCm39) I126V probably damaging Het
Parp4 T C 14: 56,886,372 (GRCm39) V1817A unknown Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Ppp1r3c T C 19: 36,711,011 (GRCm39) N253S probably damaging Het
Prdm5 A G 6: 65,808,263 (GRCm39) I42V probably benign Het
Prom2 T G 2: 127,383,017 (GRCm39) Q75P probably damaging Het
Ptpn23 T C 9: 110,217,938 (GRCm39) D669G possibly damaging Het
Rag1 T C 2: 101,474,407 (GRCm39) D245G probably benign Het
Rpl22l1 T A 3: 28,860,747 (GRCm39) probably null Het
Sars2 T C 7: 28,443,737 (GRCm39) V113A probably damaging Het
Sbno2 T A 10: 79,894,473 (GRCm39) K1067* probably null Het
Sec61g A G 11: 16,456,371 (GRCm39) probably null Het
Slc4a11 A T 2: 130,529,932 (GRCm39) M282K probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Sparc A T 11: 55,297,334 (GRCm39) probably null Het
Thra T A 11: 98,646,977 (GRCm39) C33S probably damaging Het
Trrap A T 5: 144,767,761 (GRCm39) T2293S probably benign Het
Ttn T A 2: 76,724,989 (GRCm39) probably benign Het
Vat1l T A 8: 114,998,041 (GRCm39) V195E probably damaging Het
Vmn1r60 T A 7: 5,547,549 (GRCm39) I184F possibly damaging Het
Wdfy4 A G 14: 32,825,940 (GRCm39) I1192T probably damaging Het
Zbtb10 T C 3: 9,345,446 (GRCm39) S737P possibly damaging Het
Zfp553 A G 7: 126,834,517 (GRCm39) E24G probably benign Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript 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
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'- ATCCTGGCCAGACTGCTTTC -3'
(R):5'- TCACGTGATGAGAATAAACCGGC -3'

Sequencing Primer
(F):5'- GGCCAGACTGCTTTCTCCAG -3'
(R):5'- GTGATGAGAATAAACCGGCACAACC -3'
Posted On 2014-06-23