Incidental Mutation 'R4849:Msh6'
ID 373430
Institutional Source Beutler Lab
Gene Symbol Msh6
Ensembl Gene ENSMUSG00000005370
Gene Name mutS homolog 6
Synonyms Gtmbp, GTBP, Msh6
MMRRC Submission 042461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4849 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 88282490-88298320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88290947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 178 (R178C)
Ref Sequence ENSEMBL: ENSMUSP00000005503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005503]
AlphaFold P54276
Predicted Effect possibly damaging
Transcript: ENSMUST00000005503
AA Change: R178C

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370
AA Change: R178C

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
Meta Mutation Damage Score 0.1467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G T 7: 28,314,877 (GRCm39) R239S possibly damaging Het
Angptl1 C A 1: 156,684,735 (GRCm39) N301K probably benign Het
Ankrd26 T A 6: 118,509,257 (GRCm39) T603S probably benign Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Atxn3 A G 12: 101,900,627 (GRCm39) S219P probably benign Het
Birc6 T C 17: 74,954,383 (GRCm39) S3397P probably damaging Het
Bivm A G 1: 44,182,033 (GRCm39) I414V possibly damaging Het
Cemip A G 7: 83,584,945 (GRCm39) F1324L possibly damaging Het
Ckap5 T A 2: 91,445,616 (GRCm39) N1724K probably damaging Het
Corin T A 5: 72,460,178 (GRCm39) M1035L probably damaging Het
Ctnna3 T C 10: 64,709,094 (GRCm39) I711T probably damaging Het
Cts6 A T 13: 61,349,415 (GRCm39) W98R probably null Het
Dip2a A G 10: 76,130,367 (GRCm39) S580P probably damaging Het
Dock6 A G 9: 21,723,068 (GRCm39) probably null Het
Dusp15 T A 2: 152,791,002 (GRCm39) T32S probably damaging Het
Eogt T A 6: 97,093,016 (GRCm39) N387I probably damaging Het
Evx2 T C 2: 74,489,675 (GRCm39) D29G probably benign Het
Fat1 A G 8: 45,466,007 (GRCm39) N1422S probably benign Het
Fat2 T C 11: 55,201,463 (GRCm39) D537G probably damaging Het
Fat3 A C 9: 16,289,244 (GRCm39) I93S probably benign Het
Fem1b T C 9: 62,704,576 (GRCm39) E228G probably damaging Het
Fh1 A G 1: 175,448,072 (GRCm39) T25A probably benign Het
Fndc3b A G 3: 27,514,097 (GRCm39) W695R probably damaging Het
Gaa G A 11: 119,163,813 (GRCm39) V222I possibly damaging Het
Ggnbp1 T C 17: 27,251,947 (GRCm39) probably null Het
Gipc1 A G 8: 84,388,756 (GRCm39) Y154C probably benign Het
Gm5356 G T 8: 89,913,670 (GRCm39) noncoding transcript Het
Gnl1 T A 17: 36,298,603 (GRCm39) probably null Het
Gpcpd1 C T 2: 132,376,019 (GRCm39) G605R probably damaging Het
Guca1a T C 17: 47,705,662 (GRCm39) T177A possibly damaging Het
Ifit1bl1 T C 19: 34,572,076 (GRCm39) E127G probably damaging Het
Ift81 A T 5: 122,729,282 (GRCm39) I350N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A G 6: 125,020,946 (GRCm39) R23G probably damaging Het
Ins1 A G 19: 52,253,384 (GRCm39) N108S probably damaging Het
Iqce A T 5: 140,679,214 (GRCm39) M72K possibly damaging Het
Itga3 C A 11: 94,967,097 (GRCm39) M22I probably benign Het
Kctd18 T C 1: 58,001,152 (GRCm39) E201G probably damaging Het
Klc1 A G 12: 111,748,129 (GRCm39) N344S probably damaging Het
Klrb1f A T 6: 129,033,347 (GRCm39) I192F probably damaging Het
Klrg2 A T 6: 38,607,214 (GRCm39) probably null Het
Kntc1 A C 5: 123,897,128 (GRCm39) I164L probably benign Het
Ltf T A 9: 110,855,058 (GRCm39) I357K probably benign Het
Mr1 T C 1: 155,006,436 (GRCm39) T304A probably benign Het
Mtch1 T C 17: 29,566,565 (GRCm39) D66G probably benign Het
Mtmr7 A G 8: 41,062,040 (GRCm39) V15A probably benign Het
Mtss2 A T 8: 111,452,875 (GRCm39) H40L possibly damaging Het
Mxra8 A G 4: 155,925,331 (GRCm39) probably benign Het
Myo3b T C 2: 70,075,253 (GRCm39) L535P probably damaging Het
Neurl2 T A 2: 164,674,739 (GRCm39) probably null Het
Nfia A C 4: 97,970,048 (GRCm39) T503P probably damaging Het
Noa1 T C 5: 77,454,179 (GRCm39) E487G possibly damaging Het
Nuak1 A T 10: 84,211,143 (GRCm39) V315D probably damaging Het
Nup205 A G 6: 35,207,505 (GRCm39) N1519S possibly damaging Het
Or10x1 T A 1: 174,196,966 (GRCm39) I161K probably damaging Het
Or1l4b T C 2: 37,036,266 (GRCm39) L14P probably damaging Het
Or1o1 T C 17: 37,716,589 (GRCm39) V50A probably benign Het
Or51f1e A G 7: 102,747,526 (GRCm39) I193V possibly damaging Het
Or6b13 G T 7: 139,782,340 (GRCm39) C114* probably null Het
Or9s18 G A 13: 65,300,493 (GRCm39) V152M possibly damaging Het
Peli1 T A 11: 21,098,528 (GRCm39) probably benign Het
Ppp6r1 A G 7: 4,646,206 (GRCm39) L175P probably damaging Het
Prkcd A G 14: 30,321,700 (GRCm39) L498P probably damaging Het
Prss30 T A 17: 24,191,769 (GRCm39) I251F probably benign Het
Psme3 A T 11: 101,207,907 (GRCm39) N21Y probably benign Het
Ptpra T C 2: 130,374,081 (GRCm39) Y271H probably damaging Het
Ralgapa1 T A 12: 55,745,588 (GRCm39) N1303Y probably damaging Het
Rims4 T C 2: 163,707,463 (GRCm39) I121V probably benign Het
Rnf123 A T 9: 107,933,290 (GRCm39) L1149Q probably damaging Het
Ryr3 T A 2: 112,738,807 (GRCm39) L593F probably damaging Het
Sec23b T C 2: 144,427,519 (GRCm39) F582S probably damaging Het
Sgpl1 T C 10: 60,940,297 (GRCm39) K335R probably benign Het
Sirpa C T 2: 129,451,163 (GRCm39) T141I probably damaging Het
Slit1 G T 19: 41,637,983 (GRCm39) A270E probably benign Het
Snap91 T C 9: 86,674,613 (GRCm39) T533A possibly damaging Het
Sphkap T G 1: 83,255,105 (GRCm39) E881D probably benign Het
Sptan1 C A 2: 29,901,054 (GRCm39) R1407S probably damaging Het
Tfdp1 A G 8: 13,423,895 (GRCm39) T353A probably benign Het
Ttyh1 A G 7: 4,125,533 (GRCm39) I62V possibly damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp398 T C 6: 47,836,446 (GRCm39) I82T possibly damaging Het
Zp1 A G 19: 10,896,198 (GRCm39) Y176H 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
R2026:Msh6 UTSW 17 88,297,771 (GRCm39) missense probably damaging 1.00
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
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'- CTCAAGCAGCCTTGGATGAC -3'
(R):5'- GAGGGGAGATGTCTGCATGTAC -3'

Sequencing Primer
(F):5'- GCCTTGGATGACTATACAGCGATTC -3'
(R):5'- GTCTGCATGTACAAATGAAATGGTGC -3'
Posted On 2016-03-01