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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |