Incidental Mutation 'R9102:Pms1'
| ID |
691725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pms1
|
| Ensembl Gene |
ENSMUSG00000026098 |
| Gene Name |
PMS1 homolog 1, mismatch repair system component |
| Synonyms |
|
| MMRRC Submission |
068916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9102 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 53307021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 128
(H128Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000128337]
[ENSMUST00000135246]
|
| AlphaFold |
Q8K119 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027267
AA Change: H128Q
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: H128Q
| 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 benign
Transcript: ENSMUST00000128337
|
| SMART Domains |
Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
16 |
114 |
1.13e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135246
AA Change: H128Q
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: H128Q
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adam33 |
T |
C |
2: 130,897,737 (GRCm39) |
Q227R |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,912,802 (GRCm39) |
G1276D |
probably benign |
Het |
| Adra1b |
A |
G |
11: 43,667,056 (GRCm39) |
S394P |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,341 (GRCm39) |
H226L |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,506,658 (GRCm39) |
D297G |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,869,725 (GRCm39) |
T101A |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,324,565 (GRCm39) |
R166G |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,956,323 (GRCm39) |
F587S |
probably damaging |
Het |
| Col4a1 |
A |
T |
8: 11,253,007 (GRCm39) |
C1548S |
possibly damaging |
Het |
| Cxcl15 |
G |
T |
5: 90,949,154 (GRCm39) |
M106I |
|
Het |
| Dennd6a |
T |
C |
14: 26,350,689 (GRCm39) |
I598T |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,199,567 (GRCm39) |
P1446S |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,044,469 (GRCm39) |
I3214N |
probably benign |
Het |
| Dnmt3b |
T |
C |
2: 153,518,703 (GRCm39) |
V622A |
probably damaging |
Het |
| Fam170b |
T |
A |
14: 32,557,404 (GRCm39) |
S80T |
probably damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,837,801 (GRCm39) |
H45Q |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,208,316 (GRCm39) |
F223L |
possibly damaging |
Het |
| Fndc3b |
C |
A |
3: 27,523,014 (GRCm39) |
|
probably null |
Het |
| Gbp3 |
G |
C |
3: 142,273,586 (GRCm39) |
V378L |
probably benign |
Het |
| Gc |
C |
T |
5: 89,591,444 (GRCm39) |
S98N |
probably benign |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gpr158 |
A |
T |
2: 21,830,078 (GRCm39) |
S708C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,573,331 (GRCm39) |
M2106K |
probably benign |
Het |
| Hoxd11 |
T |
A |
2: 74,513,274 (GRCm39) |
Y180N |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,235,546 (GRCm39) |
I1844V |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,917,973 (GRCm39) |
I1777T |
probably benign |
Het |
| Krt33b |
A |
C |
11: 99,915,846 (GRCm39) |
L300R |
probably damaging |
Het |
| Madd |
C |
T |
2: 90,988,404 (GRCm39) |
A1208T |
probably benign |
Het |
| Meis2 |
T |
A |
2: 115,694,760 (GRCm39) |
N461I |
probably benign |
Het |
| Mgat1 |
T |
A |
11: 49,152,165 (GRCm39) |
V216E |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
| Nrsn1 |
A |
G |
13: 25,437,517 (GRCm39) |
M137T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,298,924 (GRCm39) |
S1015P |
probably benign |
Het |
| Nudt22 |
T |
A |
19: 6,972,119 (GRCm39) |
I166F |
probably benign |
Het |
| Or10d1b |
A |
C |
9: 39,613,984 (GRCm39) |
V27G |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,879,171 (GRCm39) |
M136I |
possibly damaging |
Het |
| Or6k4 |
A |
T |
1: 173,964,322 (GRCm39) |
N4I |
|
Het |
| Or6n2 |
T |
A |
1: 173,897,176 (GRCm39) |
F104Y |
probably damaging |
Het |
| Or8b4 |
T |
A |
9: 37,829,992 (GRCm39) |
I13N |
probably damaging |
Het |
| Or8g31-ps1 |
C |
T |
9: 39,276,388 (GRCm39) |
P178S |
unknown |
Het |
| Pcdha4 |
T |
A |
18: 37,087,630 (GRCm39) |
N604K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,663,107 (GRCm39) |
V1181M |
probably damaging |
Het |
| Prkar2b |
G |
A |
12: 32,013,025 (GRCm39) |
H364Y |
probably benign |
Het |
| Pus7 |
A |
T |
5: 23,957,380 (GRCm39) |
I357K |
possibly damaging |
Het |
| Rsf1 |
GCGGC |
GCGGCGGCGCCGGC |
7: 97,229,138 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,508,906 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,915,389 (GRCm39) |
I1401V |
probably benign |
Het |
| Slc6a6 |
G |
T |
6: 91,731,940 (GRCm39) |
V590L |
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,100,725 (GRCm39) |
P490L |
probably damaging |
Het |
| Sprn |
T |
C |
7: 139,733,278 (GRCm39) |
D98G |
possibly damaging |
Het |
| Srrm4 |
T |
C |
5: 116,620,563 (GRCm39) |
D55G |
unknown |
Het |
| Sugct |
A |
G |
13: 17,497,833 (GRCm39) |
V280A |
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,381,014 (GRCm39) |
E83G |
possibly damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,455 (GRCm39) |
T209A |
probably benign |
Het |
| Top3a |
T |
C |
11: 60,647,155 (GRCm39) |
R255G |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,876,008 (GRCm39) |
F13I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,622 (GRCm39) |
E410G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,018,596 (GRCm39) |
V842A |
|
Het |
| Ubtf |
A |
G |
11: 102,201,015 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
G |
A |
1: 37,174,593 (GRCm39) |
M1I |
probably null |
Het |
| Zfp518b |
T |
C |
5: 38,831,181 (GRCm39) |
T275A |
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 |
|
|
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 |
|
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 |
|
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'- AGTCACCTTTGAGTCACCCTG -3'
(R):5'- GTTGCCATAGATAAATGTTGTAGTGAG -3'
Sequencing Primer
(F):5'- ACCTTTGAGTCACCCTGTCTTCG -3'
(R):5'- TCGTTCGATCCAGGATTCAGAAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation