Incidental Mutation 'R7417:Pms1'
ID 575352
Institutional Source Beutler Lab
Gene Symbol Pms1
Ensembl Gene ENSMUSG00000026098
Gene Name PMS1 homolog 1, mismatch repair system component
Synonyms
MMRRC Submission 045495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7417 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 53228346-53336177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53236231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 683 (E683G)
Ref Sequence ENSEMBL: ENSMUSP00000027267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000135246]
AlphaFold Q8K119
Predicted Effect probably benign
Transcript: ENSMUST00000027267
AA Change: E683G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: E683G

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135246
SMART Domains Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 151 3.84e-1 SMART
DNA_mis_repair 210 338 2.46e-25 SMART
low complexity region 457 474 N/A INTRINSIC
HMG 557 627 1.42e-17 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,460,057 (GRCm39) T213I probably damaging Het
Akr1b7 G A 6: 34,394,300 (GRCm39) probably null Het
Aldh6a1 T C 12: 84,488,556 (GRCm39) Q110R probably benign Het
Alg11 A T 8: 22,552,044 (GRCm39) T63S probably benign Het
Ankrd13b A G 11: 77,367,020 (GRCm39) Y271H probably damaging Het
Ano8 T A 8: 71,933,477 (GRCm39) D605V unknown Het
Best2 C T 8: 85,736,295 (GRCm39) probably null Het
Brca1 A G 11: 101,415,807 (GRCm39) S776P probably damaging Het
Capn7 T C 14: 31,092,663 (GRCm39) Y737H probably damaging Het
Cblc A T 7: 19,522,899 (GRCm39) S333T probably benign Het
Ccm2 T A 11: 6,543,091 (GRCm39) M257K probably benign Het
Cd320 T A 17: 34,066,530 (GRCm39) C103* probably null Het
Cd53 A G 3: 106,676,235 (GRCm39) F44S probably benign Het
Col9a2 G A 4: 120,911,489 (GRCm39) R610H not run Het
Cubn T C 2: 13,431,778 (GRCm39) I1272V probably benign Het
Cyp2j7 C T 4: 96,090,225 (GRCm39) probably null Het
Dmrt2 A T 19: 25,655,962 (GRCm39) R520S probably benign Het
Dnai3 A T 3: 145,798,835 (GRCm39) probably null Het
Drg2 A G 11: 60,345,506 (GRCm39) M1V probably null Het
Ect2 A G 3: 27,152,568 (GRCm39) S908P probably damaging Het
Eipr1 A G 12: 28,916,954 (GRCm39) T341A probably benign Het
Ell3 A C 2: 121,270,891 (GRCm39) I214R probably benign Het
Emsy A T 7: 98,264,693 (GRCm39) L568Q probably damaging Het
Foxd4 T C 19: 24,877,826 (GRCm39) T125A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Gcsam C A 16: 45,440,240 (GRCm39) H94Q probably damaging Het
Ginm1 T A 10: 7,649,844 (GRCm39) I150F probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hk2 G A 6: 82,720,326 (GRCm39) A205V probably damaging Het
Il3ra A T 14: 14,349,345 (GRCm38) H147L probably benign Het
Map3k6 T A 4: 132,975,707 (GRCm39) S732T probably benign Het
Masp2 A G 4: 148,690,178 (GRCm39) E229G probably benign Het
Mccc2 A G 13: 100,108,285 (GRCm39) probably null Het
Mia3 A G 1: 183,108,508 (GRCm39) V359A Het
Mob1a A T 6: 83,309,492 (GRCm39) T80S probably benign Het
Msantd2 G A 9: 37,434,590 (GRCm39) G478S probably damaging Het
Mtf1 A G 4: 124,718,974 (GRCm39) E329G probably null Het
Myh9 T A 15: 77,648,065 (GRCm39) K1804* probably null Het
Ndst3 A G 3: 123,465,313 (GRCm39) W220R probably damaging Het
Nln A G 13: 104,173,478 (GRCm39) L576P probably damaging Het
Nlrc4 A G 17: 74,753,483 (GRCm39) M300T probably benign Het
Obscn G T 11: 59,020,403 (GRCm39) D880E possibly damaging Het
Oprd1 T C 4: 131,844,763 (GRCm39) T82A probably damaging Het
Or2n1d T A 17: 38,646,183 (GRCm39) I45N probably damaging Het
Or4f60 A C 2: 111,902,445 (GRCm39) V161G probably benign Het
Orc3 A G 4: 34,595,136 (GRCm39) C278R probably damaging Het
Pde4d T A 13: 109,769,322 (GRCm39) probably null Het
Prdm2 A T 4: 142,905,869 (GRCm39) Y73N probably damaging Het
Prkaa2 T C 4: 104,932,740 (GRCm39) Q36R probably benign Het
Psg22 A G 7: 18,456,891 (GRCm39) E258G probably damaging Het
Ptprf T C 4: 118,069,369 (GRCm39) D1566G probably damaging Het
Rfwd3 T A 8: 111,999,701 (GRCm39) Y759F probably benign Het
Ripor2 A G 13: 24,880,533 (GRCm39) D411G probably damaging Het
Ryr2 A C 13: 11,571,634 (GRCm39) probably null Het
Sdr42e1 T C 8: 118,389,490 (GRCm39) T384A probably benign Het
Sec1 A T 7: 45,334,149 (GRCm39) probably null Het
Sec16a A T 2: 26,311,409 (GRCm39) F616I Het
Sipa1l2 T C 8: 126,208,845 (GRCm39) D521G possibly damaging Het
Smc1b T A 15: 84,981,743 (GRCm39) Q759L probably benign Het
Snph A T 2: 151,442,263 (GRCm39) S57R probably damaging Het
Sqor A T 2: 122,629,450 (GRCm39) T103S probably benign Het
Srbd1 A G 17: 86,443,749 (GRCm39) V159A probably benign Het
Srsf2 A T 11: 116,743,727 (GRCm39) V10E probably damaging Het
Swap70 T A 7: 109,863,316 (GRCm39) probably null Het
Synm A C 7: 67,382,954 (GRCm39) *675G probably null Het
Tek A G 4: 94,699,582 (GRCm39) E320G probably benign Het
Tenm3 T C 8: 48,689,218 (GRCm39) D2123G probably damaging Het
Tmod4 A G 3: 95,033,174 (GRCm39) K56R possibly damaging Het
Top3b G A 16: 16,695,714 (GRCm39) probably benign Het
Tssc4 G T 7: 142,624,425 (GRCm39) E244D possibly damaging Het
Twnk G A 19: 44,999,003 (GRCm39) probably null Het
Ube4a A C 9: 44,868,011 (GRCm39) I45S probably benign Het
Unc79 A T 12: 103,055,017 (GRCm39) M954L possibly damaging Het
Vcpip1 A T 1: 9,816,540 (GRCm39) D614E probably benign Het
Vmn1r45 T A 6: 89,910,035 (GRCm39) I312L probably benign Het
Vmn1r77 A G 7: 11,775,611 (GRCm39) Y129C probably damaging Het
Zer1 A G 2: 29,992,834 (GRCm39) L600P probably damaging Het
Zfp266 T C 9: 20,412,232 (GRCm39) T114A probably benign Het
Zrsr2-ps1 T C 11: 22,924,662 (GRCm39) probably null Het
Other mutations in Pms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Pms1 APN 1 53,245,715 (GRCm39) splice site probably benign
IGL00937:Pms1 APN 1 53,314,410 (GRCm39) missense possibly damaging 0.74
IGL01505:Pms1 APN 1 53,246,130 (GRCm39) missense probably benign
IGL02109:Pms1 APN 1 53,246,568 (GRCm39) missense probably damaging 0.96
IGL02245:Pms1 APN 1 53,246,519 (GRCm39) missense probably damaging 1.00
IGL02273:Pms1 APN 1 53,247,156 (GRCm39) missense probably damaging 1.00
IGL02339:Pms1 APN 1 53,314,324 (GRCm39) missense possibly damaging 0.78
R0157:Pms1 UTSW 1 53,234,196 (GRCm39) nonsense probably null
R0530:Pms1 UTSW 1 53,235,972 (GRCm39) splice site probably null
R1398:Pms1 UTSW 1 53,246,435 (GRCm39) missense possibly damaging 0.88
R1817:Pms1 UTSW 1 53,246,128 (GRCm39) missense probably benign 0.02
R1831:Pms1 UTSW 1 53,246,370 (GRCm39) missense probably benign 0.00
R1838:Pms1 UTSW 1 53,231,257 (GRCm39) critical splice donor site probably null
R1867:Pms1 UTSW 1 53,228,546 (GRCm39) missense probably benign 0.36
R1874:Pms1 UTSW 1 53,246,392 (GRCm39) missense probably benign 0.16
R1939:Pms1 UTSW 1 53,236,135 (GRCm39) missense probably damaging 1.00
R1991:Pms1 UTSW 1 53,321,201 (GRCm39) missense probably damaging 1.00
R1993:Pms1 UTSW 1 53,234,174 (GRCm39) missense probably benign
R1995:Pms1 UTSW 1 53,234,174 (GRCm39) missense probably benign
R2049:Pms1 UTSW 1 53,321,147 (GRCm39) missense probably damaging 0.99
R2058:Pms1 UTSW 1 53,314,327 (GRCm39) missense probably benign 0.00
R2140:Pms1 UTSW 1 53,321,147 (GRCm39) missense probably damaging 0.99
R4078:Pms1 UTSW 1 53,306,948 (GRCm39) splice site probably null
R4608:Pms1 UTSW 1 53,234,097 (GRCm39) missense possibly damaging 0.80
R4668:Pms1 UTSW 1 53,228,633 (GRCm39) nonsense probably null
R5164:Pms1 UTSW 1 53,246,799 (GRCm39) missense probably damaging 0.99
R5200:Pms1 UTSW 1 53,245,916 (GRCm39) missense probably benign 0.00
R5397:Pms1 UTSW 1 53,231,279 (GRCm39) nonsense probably null
R5745:Pms1 UTSW 1 53,246,861 (GRCm39) nonsense probably null
R6440:Pms1 UTSW 1 53,234,180 (GRCm39) missense probably damaging 0.98
R6445:Pms1 UTSW 1 53,231,353 (GRCm39) missense possibly damaging 0.77
R6802:Pms1 UTSW 1 53,245,951 (GRCm39) missense probably benign 0.06
R6975:Pms1 UTSW 1 53,228,590 (GRCm39) missense probably damaging 0.99
R7020:Pms1 UTSW 1 53,228,541 (GRCm39) missense probably damaging 1.00
R7037:Pms1 UTSW 1 53,246,770 (GRCm39) missense possibly damaging 0.95
R7199:Pms1 UTSW 1 53,295,889 (GRCm39) missense probably benign 0.02
R7587:Pms1 UTSW 1 53,246,475 (GRCm39) missense probably benign 0.00
R7716:Pms1 UTSW 1 53,246,767 (GRCm39) missense probably damaging 1.00
R8178:Pms1 UTSW 1 53,246,505 (GRCm39) missense probably benign 0.00
R8336:Pms1 UTSW 1 53,245,985 (GRCm39) missense probably benign
R8399:Pms1 UTSW 1 53,307,091 (GRCm39) critical splice acceptor site probably null
R8692:Pms1 UTSW 1 53,246,052 (GRCm39) missense probably benign
R8736:Pms1 UTSW 1 53,307,053 (GRCm39) missense possibly damaging 0.63
R8738:Pms1 UTSW 1 53,321,195 (GRCm39) missense possibly damaging 0.67
R8751:Pms1 UTSW 1 53,231,269 (GRCm39) missense probably benign 0.01
R9102:Pms1 UTSW 1 53,307,021 (GRCm39) missense probably benign 0.11
R9294:Pms1 UTSW 1 53,247,216 (GRCm39) missense probably benign
R9648:Pms1 UTSW 1 53,314,284 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCAGTGGTTCTGCAAGG -3'
(R):5'- GCTATTGAACAGGAGACACAAGTATC -3'

Sequencing Primer
(F):5'- GTCTTTTAAATAGCAGGGCTTCC -3'
(R):5'- CACAAGTATCATTGAAAGACGGC -3'
Posted On 2019-10-07