Incidental Mutation 'R2026:Msh6'
ID 220717
Institutional Source Beutler Lab
Gene Symbol Msh6
Ensembl Gene ENSMUSG00000005370
Gene Name mutS homolog 6
Synonyms Gtmbp, GTBP, Msh6
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2026 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 88282490-88298320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88297771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1264 (H1264Y)
Ref Sequence ENSEMBL: ENSMUSP00000005503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005503] [ENSMUST00000005504]
AlphaFold P54276
Predicted Effect probably damaging
Transcript: ENSMUST00000005503
AA Change: H1264Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370
AA Change: H1264Y

DomainStartEndE-ValueType
low complexity region 23 46 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
PWWP 90 152 9.01e-30 SMART
low complexity region 198 212 N/A INTRINSIC
low complexity region 216 230 N/A INTRINSIC
low complexity region 239 264 N/A INTRINSIC
low complexity region 273 291 N/A INTRINSIC
low complexity region 373 389 N/A INTRINSIC
Pfam:MutS_I 406 525 4.7e-35 PFAM
Pfam:MutS_II 536 700 1.4e-10 PFAM
MUTSd 750 1100 4.56e-86 SMART
MUTSac 1125 1319 1.68e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000005504
SMART Domains Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 21 73 N/A INTRINSIC
FBOX 162 202 2.44e-8 SMART
PbH1 398 420 1.37e3 SMART
PbH1 421 443 8.83e0 SMART
CASH 421 557 1.31e-7 SMART
PbH1 444 466 6.15e1 SMART
PbH1 467 489 1.78e3 SMART
PbH1 490 512 2.29e2 SMART
PbH1 513 535 7.67e2 SMART
PbH1 536 558 1.36e0 SMART
PbH1 559 581 3.59e0 SMART
CASH 573 695 2.35e0 SMART
PbH1 582 604 8.73e2 SMART
PbH1 605 627 4.28e2 SMART
PbH1 628 650 5.03e2 SMART
PbH1 651 673 3.79e1 SMART
PbH1 674 696 4.73e0 SMART
PbH1 697 719 1.86e2 SMART
CASH 711 840 9.31e-13 SMART
PbH1 720 742 2.91e0 SMART
PbH1 743 765 3.73e2 SMART
PbH1 766 788 1.62e2 SMART
PbH1 789 811 9.99e1 SMART
PbH1 812 833 1.21e3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127334
Predicted Effect probably benign
Transcript: ENSMUST00000130379
SMART Domains Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371

DomainStartEndE-ValueType
FBOX 87 127 2.44e-8 SMART
PbH1 323 345 1.37e3 SMART
PbH1 346 368 8.83e0 SMART
CASH 346 482 1.31e-7 SMART
PbH1 369 391 6.15e1 SMART
PbH1 392 414 1.78e3 SMART
PbH1 415 437 2.29e2 SMART
PbH1 438 460 7.67e2 SMART
PbH1 461 483 1.36e0 SMART
PbH1 484 506 3.59e0 SMART
CASH 498 620 2.35e0 SMART
PbH1 507 529 8.73e2 SMART
PbH1 530 552 4.28e2 SMART
PbH1 553 575 5.03e2 SMART
PbH1 576 598 3.79e1 SMART
PbH1 599 621 4.73e0 SMART
PbH1 622 644 1.86e2 SMART
CASH 636 765 9.31e-13 SMART
PbH1 645 667 2.91e0 SMART
PbH1 668 690 3.73e2 SMART
PbH1 691 713 1.62e2 SMART
PbH1 714 736 9.99e1 SMART
PbH1 737 758 1.21e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135639
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death and are predisposed to tumor formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,880,205 (GRCm39) K269R probably benign Het
Abcc12 A G 8: 87,284,862 (GRCm39) V251A probably benign Het
Avil G A 10: 126,847,742 (GRCm39) G556S probably damaging Het
C3 T C 17: 57,525,562 (GRCm39) Y898C probably damaging Het
Cacng2 A G 15: 77,879,720 (GRCm39) F201L possibly damaging Het
Casp7 T A 19: 56,424,830 (GRCm39) I183N probably damaging Het
Cntn3 A T 6: 102,397,388 (GRCm39) W62R probably damaging Het
Ctrb1 T C 8: 112,415,317 (GRCm39) N119S probably benign Het
Cyp3a59 G A 5: 146,033,098 (GRCm39) V157M probably damaging Het
Dhfr G T 13: 92,502,279 (GRCm39) G117* probably null Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dlg2 C A 7: 91,614,931 (GRCm39) P290Q probably damaging Het
Dnah3 T A 7: 119,638,629 (GRCm39) Q1240L probably damaging Het
Exd1 A T 2: 119,350,786 (GRCm39) S492T probably benign Het
Fermt1 T C 2: 132,760,445 (GRCm39) I415M probably benign Het
Fsip2 A G 2: 82,819,788 (GRCm39) T5174A possibly damaging Het
Fuca2 T G 10: 13,388,391 (GRCm39) V389G probably damaging Het
Gm14412 A T 2: 177,008,898 (GRCm39) H50Q possibly damaging Het
Gm5129 G A 5: 29,940,732 (GRCm39) probably benign Het
Hif3a T C 7: 16,778,322 (GRCm39) R437G possibly damaging Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Hs1bp3 A G 12: 8,387,738 (GRCm39) E301G probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ice2 T C 9: 69,323,607 (GRCm39) S701P probably benign Het
Igf2bp1 A G 11: 95,864,996 (GRCm39) V151A possibly damaging Het
Lig4 A T 8: 10,022,436 (GRCm39) L448Q probably damaging Het
Man2b1 G C 8: 85,821,964 (GRCm39) W726C probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Ncoa1 A T 12: 4,317,647 (GRCm39) S1228R probably benign Het
Ndufa10 A G 1: 92,367,614 (GRCm39) Y339H probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nutm2 A G 13: 50,628,856 (GRCm39) H640R probably benign Het
Or11i1 T C 3: 106,729,027 (GRCm39) I283V probably benign Het
Or2t1 T C 14: 14,328,891 (GRCm38) V260A probably benign Het
Or51ac3 T A 7: 103,214,084 (GRCm39) Y134F probably damaging Het
Or5b123 T A 19: 13,596,945 (GRCm39) C140S probably damaging Het
Or5w1b G T 2: 87,475,753 (GRCm39) A238E probably damaging Het
Or6c211 T A 10: 129,506,334 (GRCm39) D18V probably damaging Het
Pde1c C T 6: 56,157,175 (GRCm39) V162I probably damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pfas C T 11: 68,884,783 (GRCm39) G473E probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Polq A G 16: 36,883,107 (GRCm39) D1757G possibly damaging Het
Popdc3 T C 10: 45,190,951 (GRCm39) W21R probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rfc1 G T 5: 65,445,372 (GRCm39) T412K probably damaging Het
Sap130 T C 18: 31,831,627 (GRCm39) S706P possibly damaging Het
Scgn T C 13: 24,175,047 (GRCm39) probably benign Het
Smad7 T C 18: 75,527,225 (GRCm39) V357A probably damaging Het
Snrnp48 G T 13: 38,393,862 (GRCm39) A56S possibly damaging Het
Sptbn1 G T 11: 30,054,559 (GRCm39) A2178E probably benign Het
Syn2 C T 6: 115,255,212 (GRCm39) T508I probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Trpm7 T C 2: 126,654,658 (GRCm39) K1427E probably benign Het
Trrap A G 5: 144,739,854 (GRCm39) I1118V possibly damaging Het
Tslp A T 18: 32,948,725 (GRCm39) I37L probably benign Het
Ttll3 G A 6: 113,375,731 (GRCm39) V297M probably damaging Het
Ttn T C 2: 76,540,713 (GRCm39) D34091G possibly damaging Het
Txndc11 CCCGCCGCCGCCGCCGC CCCGCCGCCGCCGC 16: 10,952,338 (GRCm39) probably benign Het
Ube3a T C 7: 58,953,474 (GRCm39) F803L probably damaging Het
Ubn1 A G 16: 4,882,514 (GRCm39) E325G probably damaging Het
Wfikkn2 A G 11: 94,129,779 (GRCm39) W121R possibly damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null Het
Zfp616 A T 11: 73,974,413 (GRCm39) L227F possibly damaging Het
Other mutations in Msh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Msh6 APN 17 88,292,907 (GRCm39) missense probably benign
IGL01834:Msh6 APN 17 88,293,140 (GRCm39) missense probably damaging 1.00
IGL01904:Msh6 APN 17 88,292,160 (GRCm39) missense probably benign
IGL01957:Msh6 APN 17 88,292,519 (GRCm39) missense possibly damaging 0.73
IGL02117:Msh6 APN 17 88,298,234 (GRCm39) unclassified probably benign
IGL02234:Msh6 APN 17 88,294,229 (GRCm39) missense probably damaging 1.00
IGL02512:Msh6 APN 17 88,292,160 (GRCm39) missense probably benign
IGL02651:Msh6 APN 17 88,296,943 (GRCm39) missense probably damaging 1.00
IGL03381:Msh6 APN 17 88,292,537 (GRCm39) missense probably damaging 1.00
medea UTSW 17 88,287,651 (GRCm39) nonsense probably null
medusa UTSW 17 88,295,891 (GRCm39) unclassified probably benign
PIT4449001:Msh6 UTSW 17 88,293,616 (GRCm39) missense probably damaging 0.96
R0196:Msh6 UTSW 17 88,287,788 (GRCm39) missense possibly damaging 0.95
R0324:Msh6 UTSW 17 88,294,048 (GRCm39) nonsense probably null
R0492:Msh6 UTSW 17 88,282,679 (GRCm39) missense probably benign
R0711:Msh6 UTSW 17 88,294,112 (GRCm39) missense probably damaging 1.00
R1065:Msh6 UTSW 17 88,295,891 (GRCm39) unclassified probably benign
R1454:Msh6 UTSW 17 88,292,186 (GRCm39) missense probably benign 0.00
R1740:Msh6 UTSW 17 88,293,150 (GRCm39) missense possibly damaging 0.72
R1770:Msh6 UTSW 17 88,287,651 (GRCm39) nonsense probably null
R1771:Msh6 UTSW 17 88,291,950 (GRCm39) missense probably benign 0.17
R1919:Msh6 UTSW 17 88,292,553 (GRCm39) missense probably benign 0.01
R1926:Msh6 UTSW 17 88,293,653 (GRCm39) missense probably benign
R2095:Msh6 UTSW 17 88,295,661 (GRCm39) missense possibly damaging 0.93
R2097:Msh6 UTSW 17 88,292,844 (GRCm39) missense probably benign 0.00
R2149:Msh6 UTSW 17 88,293,516 (GRCm39) missense probably damaging 1.00
R2156:Msh6 UTSW 17 88,293,568 (GRCm39) nonsense probably null
R2167:Msh6 UTSW 17 88,296,911 (GRCm39) missense probably damaging 1.00
R2382:Msh6 UTSW 17 88,292,159 (GRCm39) missense probably benign
R3005:Msh6 UTSW 17 88,295,713 (GRCm39) missense probably benign 0.34
R3160:Msh6 UTSW 17 88,292,909 (GRCm39) missense probably damaging 1.00
R3162:Msh6 UTSW 17 88,292,909 (GRCm39) missense probably damaging 1.00
R3162:Msh6 UTSW 17 88,292,909 (GRCm39) missense probably damaging 1.00
R3774:Msh6 UTSW 17 88,293,609 (GRCm39) missense probably damaging 1.00
R3775:Msh6 UTSW 17 88,293,609 (GRCm39) missense probably damaging 1.00
R4350:Msh6 UTSW 17 88,292,012 (GRCm39) missense probably damaging 1.00
R4424:Msh6 UTSW 17 88,298,217 (GRCm39) nonsense probably null
R4499:Msh6 UTSW 17 88,287,697 (GRCm39) missense probably damaging 1.00
R4667:Msh6 UTSW 17 88,292,234 (GRCm39) missense possibly damaging 0.89
R4668:Msh6 UTSW 17 88,292,234 (GRCm39) missense possibly damaging 0.89
R4669:Msh6 UTSW 17 88,292,234 (GRCm39) missense possibly damaging 0.89
R4849:Msh6 UTSW 17 88,290,947 (GRCm39) missense possibly damaging 0.94
R5137:Msh6 UTSW 17 88,287,716 (GRCm39) missense possibly damaging 0.83
R5472:Msh6 UTSW 17 88,291,989 (GRCm39) missense possibly damaging 0.81
R5594:Msh6 UTSW 17 88,293,497 (GRCm39) missense probably benign 0.00
R5607:Msh6 UTSW 17 88,294,329 (GRCm39) missense probably damaging 1.00
R5608:Msh6 UTSW 17 88,294,329 (GRCm39) missense probably damaging 1.00
R5660:Msh6 UTSW 17 88,292,147 (GRCm39) missense possibly damaging 0.94
R6243:Msh6 UTSW 17 88,290,999 (GRCm39) missense possibly damaging 0.69
R6279:Msh6 UTSW 17 88,287,677 (GRCm39) missense probably damaging 1.00
R6357:Msh6 UTSW 17 88,291,888 (GRCm39) nonsense probably null
R6399:Msh6 UTSW 17 88,294,319 (GRCm39) missense probably damaging 1.00
R6453:Msh6 UTSW 17 88,293,167 (GRCm39) missense probably damaging 1.00
R6646:Msh6 UTSW 17 88,293,870 (GRCm39) missense possibly damaging 0.80
R7404:Msh6 UTSW 17 88,282,548 (GRCm39)
R7837:Msh6 UTSW 17 88,292,094 (GRCm39) missense probably damaging 1.00
R8004:Msh6 UTSW 17 88,294,215 (GRCm39) missense probably damaging 1.00
R8296:Msh6 UTSW 17 88,294,340 (GRCm39) missense probably damaging 1.00
R8326:Msh6 UTSW 17 88,294,340 (GRCm39) missense probably damaging 1.00
R8377:Msh6 UTSW 17 88,292,598 (GRCm39) missense probably damaging 1.00
R8715:Msh6 UTSW 17 88,293,195 (GRCm39) missense probably benign
R9752:Msh6 UTSW 17 88,293,963 (GRCm39) missense probably damaging 1.00
X0026:Msh6 UTSW 17 88,298,042 (GRCm39) missense probably benign 0.00
X0026:Msh6 UTSW 17 88,293,609 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGATCGGTGTTCCCATTCTC -3'
(R):5'- TAGCTCTTAGGACAAGCTCCC -3'

Sequencing Primer
(F):5'- GTCACAAGGTGTACATCTCTTAATG -3'
(R):5'- AGCTCTTAGGACAAGCTCCCTTAATG -3'
Posted On 2014-08-25