Incidental Mutation 'IGL02109:Pms1'
| ID |
281158 |
| 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 # |
IGL02109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53246568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 324
(S324P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000135246]
|
| AlphaFold |
Q8K119 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027267
AA Change: S324P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: S324P
| 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 |
probably damaging
Transcript: ENSMUST00000135246
AA Change: S324P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: S324P
| 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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
A |
8: 23,586,200 (GRCm39) |
N427K |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,090,408 (GRCm39) |
E302K |
probably damaging |
Het |
| Arl3 |
T |
A |
19: 46,530,785 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
T |
A |
12: 58,314,934 (GRCm39) |
E229D |
probably benign |
Het |
| Ctbp1 |
T |
C |
5: 33,424,312 (GRCm39) |
D26G |
probably damaging |
Het |
| Flt3 |
G |
T |
5: 147,287,491 (GRCm39) |
H671N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,848,382 (GRCm39) |
D1799G |
probably benign |
Het |
| Il20ra |
G |
A |
10: 19,635,253 (GRCm39) |
G498D |
possibly damaging |
Het |
| Kcnu1 |
T |
G |
8: 26,427,727 (GRCm39) |
L348R |
possibly damaging |
Het |
| Lrpprc |
A |
T |
17: 85,033,998 (GRCm39) |
L999* |
probably null |
Het |
| Myt1 |
T |
G |
2: 181,457,410 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
C |
T |
5: 65,955,477 (GRCm39) |
T467M |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,832,693 (GRCm39) |
T355A |
probably benign |
Het |
| Ocstamp |
A |
T |
2: 165,239,256 (GRCm39) |
V310E |
possibly damaging |
Het |
| Or4k39 |
T |
G |
2: 111,238,838 (GRCm39) |
|
noncoding transcript |
Het |
| Or8b3 |
T |
C |
9: 38,314,382 (GRCm39) |
F71L |
possibly damaging |
Het |
| Plcb1 |
C |
A |
2: 134,628,479 (GRCm39) |
H9Q |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,192,576 (GRCm39) |
Q795L |
probably benign |
Het |
| Pnldc1 |
G |
T |
17: 13,124,425 (GRCm39) |
H143Q |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,800,543 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,779,502 (GRCm39) |
F250L |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,137,948 (GRCm39) |
D241G |
possibly damaging |
Het |
| St8sia4 |
T |
C |
1: 95,588,617 (GRCm39) |
I73V |
possibly damaging |
Het |
| Tle3 |
T |
A |
9: 61,320,332 (GRCm39) |
C595S |
probably damaging |
Het |
| Tmem209 |
T |
C |
6: 30,497,944 (GRCm39) |
Y117C |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,504,766 (GRCm39) |
I568N |
probably damaging |
Het |
| Ttll10 |
C |
T |
4: 156,131,937 (GRCm39) |
D22N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,640,202 (GRCm39) |
V13802E |
probably damaging |
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 |
|
|
IGL00937:Pms1
|
APN |
1 |
53,314,410 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01505:Pms1
|
APN |
1 |
53,246,130 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation