Incidental Mutation 'R6279:Msh6'
ID 507862
Institutional Source Beutler Lab
Gene Symbol Msh6
Ensembl Gene ENSMUSG00000005370
Gene Name mutS homolog 6
Synonyms Gtmbp, GTBP, Msh6
MMRRC Submission 044449-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6279 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 88282490-88298320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88287677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 106 (W106R)
Ref Sequence ENSEMBL: ENSMUSP00000005503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005503]
AlphaFold P54276
Predicted Effect probably damaging
Transcript: ENSMUST00000005503
AA Change: W106R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370
AA Change: W106R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Arid1b C A 17: 5,392,274 (GRCm39) L1935M probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Cyp2d22 C A 15: 82,258,169 (GRCm39) K150N probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Faap24 A C 7: 35,095,709 (GRCm39) V12G possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Ggta1 A G 2: 35,298,006 (GRCm39) Y148H probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il12a A T 3: 68,605,312 (GRCm39) I193F probably damaging Het
Il2rb T C 15: 78,365,738 (GRCm39) N520D possibly damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Lrba A G 3: 86,256,171 (GRCm39) D1171G probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or10w3 A G 19: 13,704,029 (GRCm39) I135V probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or4c105 A T 2: 88,647,719 (GRCm39) D68V probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pde10a T C 17: 9,197,789 (GRCm39) I1026T probably damaging Het
Pde4dip A C 3: 97,606,496 (GRCm39) L2126R probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pkmyt1 C T 17: 23,951,476 (GRCm39) P10L probably benign Het
Pphln1-ps1 T C 16: 13,495,134 (GRCm39) S78P probably damaging Het
Prr5l A T 2: 101,547,765 (GRCm39) Y253* probably null Het
Rdh9 A G 10: 127,612,627 (GRCm39) T92A probably benign Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr1 A T 7: 28,786,853 (GRCm39) M1587K possibly damaging Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Sh3d19 A T 3: 86,011,409 (GRCm39) I332F possibly damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Slk A G 19: 47,630,443 (GRCm39) T1205A probably damaging Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Tnpo1 G A 13: 99,027,216 (GRCm39) P25L possibly damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Tshz1 A T 18: 84,033,436 (GRCm39) V324D probably damaging Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably 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
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
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'- GACTTGCCAGAAGCCTCCAAAG -3'
(R):5'- GCTATTCCTGCAATTTGCTAAGG -3'

Sequencing Primer
(F):5'- CTGTGGGTAATTGCCATTG -3'
(R):5'- TCCTGCAATTTGCTAAGGAAACAC -3'
Posted On 2018-03-15