Incidental Mutation 'IGL00937:Pms1'
ID 26662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pms1
Ensembl Gene ENSMUSG00000026098
Gene Name PMS1 homolog 1, mismatch repair system component
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00937
Quality Score
Status
Chromosome 1
Chromosomal Location 53228346-53336177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53314410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 45 (E45V)
Ref Sequence ENSEMBL: ENSMUSP00000120670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000126590] [ENSMUST00000128337] [ENSMUST00000133358] [ENSMUST00000135246]
AlphaFold Q8K119
Predicted Effect probably benign
Transcript: ENSMUST00000027267
AA Change: E45V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: E45V

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 possibly damaging
Transcript: ENSMUST00000126590
AA Change: E45V

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120670
Gene: ENSMUSG00000026098
AA Change: E45V

DomainStartEndE-ValueType
Pfam:HATPase_c 16 80 5.3e-13 PFAM
Pfam:HATPase_c_3 18 79 1.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128337
AA Change: E45V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098
AA Change: E45V

DomainStartEndE-ValueType
HATPase_c 16 114 1.13e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133358
AA Change: E45V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122418
Gene: ENSMUSG00000026098
AA Change: E45V

DomainStartEndE-ValueType
Pfam:HATPase_c 16 87 1.8e-13 PFAM
Pfam:HATPase_c_3 18 86 6.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135246
AA Change: E45V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: E45V

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
Coding Region Coverage
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,845,464 (GRCm39) probably null Het
Cd34 A G 1: 194,642,422 (GRCm39) E381G probably damaging Het
Chka A G 19: 3,942,189 (GRCm39) E381G probably benign Het
Dennd1b T A 1: 139,097,977 (GRCm39) C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 (GRCm39) A227T probably benign Het
F13b T A 1: 139,445,098 (GRCm39) probably benign Het
Hipk3 T C 2: 104,263,517 (GRCm39) N933D possibly damaging Het
Mmp27 T C 9: 7,578,900 (GRCm39) probably benign Het
Nod1 C T 6: 54,914,349 (GRCm39) V815I probably benign Het
Or2a5 T A 6: 42,873,568 (GRCm39) F61Y probably damaging Het
Or2ag15 T A 7: 106,340,364 (GRCm39) Y259F probably damaging Het
Or3a1d C T 11: 74,238,255 (GRCm39) V52I probably benign Het
Or51ab3 C A 7: 103,201,064 (GRCm39) A24E probably damaging Het
Or51h1 T A 7: 102,308,555 (GRCm39) S176T probably damaging Het
Or52k2 T A 7: 102,253,564 (GRCm39) M1K probably null Het
Prkcsh T C 9: 21,917,861 (GRCm39) S126P possibly damaging Het
Pros1 A T 16: 62,730,408 (GRCm39) L299F probably damaging Het
Scrn1 A G 6: 54,497,718 (GRCm39) I291T probably benign Het
Slc15a2 A T 16: 36,572,242 (GRCm39) Y676* probably null Het
Tenm2 A C 11: 35,915,450 (GRCm39) V2028G probably damaging Het
Trpa1 T C 1: 14,950,501 (GRCm39) probably benign Het
Other mutations in Pms1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Pms1 APN 1 53,245,715 (GRCm39) splice site probably benign
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
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
Posted On 2013-04-17