Incidental Mutation 'R4078:Pms1'
ID 368281
Institutional Source Beutler Lab
Gene Symbol Pms1
Ensembl Gene ENSMUSG00000026098
Gene Name PMS1 homolog 1, mismatch repair system component
Synonyms
MMRRC Submission 041623-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4078 (G1)
Quality Score 173
Status Validated
Chromosome 1
Chromosomal Location 53228346-53336177 bp(-) (GRCm39)
Type of Mutation splice site (74 bp from exon)
DNA Base Change (assembly) A to T at 53306948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000128337] [ENSMUST00000135246]
AlphaFold Q8K119
Predicted Effect probably benign
Transcript: ENSMUST00000027267
SMART Domains Protein: ENSMUSP00000027267
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
Predicted Effect probably null
Transcript: ENSMUST00000128337
SMART Domains Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098

DomainStartEndE-ValueType
HATPase_c 16 114 1.13e0 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142922
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (70/73)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,215,359 (GRCm39) L367* probably null Het
Agfg1 T A 1: 82,860,008 (GRCm39) S312T possibly damaging Het
Akap8 C T 17: 32,531,272 (GRCm39) R380Q probably damaging Het
Ambp T A 4: 63,068,680 (GRCm39) K112N probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Asah1 A G 8: 41,807,119 (GRCm39) S102P probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cabs1 G A 5: 88,128,161 (GRCm39) E271K probably damaging Het
Car8 T C 4: 8,169,731 (GRCm39) K259R possibly damaging Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdh4 A G 2: 179,530,966 (GRCm39) E616G possibly damaging Het
Cdk11b C T 4: 155,724,204 (GRCm39) probably benign Het
Cfap74 A G 4: 155,540,128 (GRCm39) D975G probably damaging Het
Col27a1 G T 4: 63,142,669 (GRCm39) R119L probably damaging Het
Col7a1 A G 9: 108,790,059 (GRCm39) N918S unknown Het
Colec11 T C 12: 28,645,246 (GRCm39) N142D possibly damaging Het
Cox7a2 G A 9: 79,665,852 (GRCm39) Q10* probably null Het
Cyp2b23 C A 7: 26,372,517 (GRCm39) G366V probably damaging Het
Eif1ad3 A G 12: 87,843,401 (GRCm39) K16R unknown Het
Emsy G A 7: 98,239,932 (GRCm39) P1108S probably damaging Het
Etl4 A T 2: 20,812,772 (GRCm39) R1442S probably damaging Het
Fam151a G A 4: 106,604,954 (GRCm39) G439S probably benign Het
Fat1 C T 8: 45,442,159 (GRCm39) P1154S probably damaging Het
Fat4 G A 3: 39,034,169 (GRCm39) S2607N probably damaging Het
Fzd7 T A 1: 59,522,948 (GRCm39) M277K possibly damaging Het
Fzd9 A G 5: 135,278,490 (GRCm39) V465A probably benign Het
Gm38706 G T 6: 130,460,700 (GRCm39) noncoding transcript Het
Gm9758 T A 5: 14,961,536 (GRCm39) probably null Het
Gpr3 T C 4: 132,938,226 (GRCm39) T149A probably damaging Het
Heatr9 C A 11: 83,403,254 (GRCm39) K428N probably benign Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kcnn3 A G 3: 89,568,495 (GRCm39) K591R possibly damaging Het
Khdrbs2 T C 1: 32,558,895 (GRCm39) probably benign Het
Lpp G A 16: 24,500,611 (GRCm39) R141H probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Macf1 T A 4: 123,365,884 (GRCm39) Q2959L probably benign Het
Mipep T A 14: 61,083,926 (GRCm39) Y606N probably damaging Het
Mroh5 C A 15: 73,657,889 (GRCm39) C547F possibly damaging Het
Nek3 A T 8: 22,622,153 (GRCm39) W363R probably damaging Het
Nphs1 T A 7: 30,166,945 (GRCm39) Y717* probably null Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Optc T C 1: 133,826,087 (GRCm39) H270R probably damaging Het
Or1l4 T A 2: 37,092,024 (GRCm39) I257N possibly damaging Het
Or2l5 T A 16: 19,333,982 (GRCm39) M135L possibly damaging Het
Or5p80 T A 7: 108,230,114 (GRCm39) M305K probably benign Het
Or9r7 G A 10: 129,962,587 (GRCm39) T113I probably damaging Het
Pik3c2g A G 6: 139,612,608 (GRCm39) probably benign Het
Pramel51 T A 12: 88,142,683 (GRCm39) I312F probably benign Het
Prkg1 T C 19: 31,562,978 (GRCm39) Y156C probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Slc22a28 T A 19: 8,078,777 (GRCm39) H304L probably benign Het
Stox1 C T 10: 62,501,810 (GRCm39) C250Y probably benign Het
Sult2a3 A G 7: 13,855,662 (GRCm39) W65R possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Syne2 C A 12: 76,082,398 (GRCm39) T4857K probably damaging Het
Tcp1 T C 17: 13,136,970 (GRCm39) L64S probably benign Het
Thap11 G T 8: 106,582,548 (GRCm39) E186* probably null Het
Tmem67 A G 4: 12,040,633 (GRCm39) probably null Het
Trappc10 T C 10: 78,046,216 (GRCm39) Y458C probably damaging Het
Ufd1 A G 16: 18,644,528 (GRCm39) Y197C possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp49 A G 17: 47,985,674 (GRCm39) T245A probably damaging Het
Washc1 A T 17: 66,424,156 (GRCm39) E289D probably benign Het
Zc3h7a A T 16: 10,969,011 (GRCm39) V450E probably benign Het
Zcchc17 T G 4: 130,223,418 (GRCm39) I123L possibly damaging Het
Zfp955a A G 17: 33,460,675 (GRCm39) Y486H probably benign 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
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
R7417:Pms1 UTSW 1 53,236,231 (GRCm39) missense probably benign 0.00
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'- AAAACGCTCTTCCTCATCTGTG -3'
(R):5'- GCATTCTCTTAGATTGCCATACAC -3'

Sequencing Primer
(F):5'- CTGTGACAATGATACTAGTGACCC -3'
(R):5'- ATTGCCATACACATTTTTGGTTTGG -3'
Posted On 2016-01-15