Incidental Mutation 'R8736:Pms1'
| ID |
663020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pms1
|
| Ensembl Gene |
ENSMUSG00000026098 |
| Gene Name |
PMS1 homolog 1, mismatch repair system component |
| Synonyms |
|
| MMRRC Submission |
068617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53307053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 118
(S118G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000128337]
[ENSMUST00000135246]
|
| AlphaFold |
Q8K119 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027267
AA Change: S118G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: S118G
| 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: ENSMUST00000128337
AA Change: S118G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098
AA Change: S118G
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
16 |
114 |
1.13e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135246
AA Change: S118G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: S118G
| 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: 99.9%
- 20x: 99.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp2 |
T |
A |
11: 78,178,875 (GRCm39) |
S2047T |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,815,833 (GRCm39) |
S100P |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,447 (GRCm39) |
T35A |
unknown |
Het |
| Cul2 |
T |
A |
18: 3,434,019 (GRCm39) |
V672E |
probably damaging |
Het |
| Cyb5a |
C |
A |
18: 84,869,560 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
T |
A |
14: 45,836,642 (GRCm39) |
Y831F |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,995,104 (GRCm39) |
I698T |
probably damaging |
Het |
| Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
| Fcgbp |
G |
T |
7: 27,805,621 (GRCm39) |
V1967L |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,972 (GRCm39) |
N177S |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,047 (GRCm39) |
Y242H |
probably damaging |
Het |
| Mab21l2 |
C |
A |
3: 86,454,607 (GRCm39) |
R131L |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,726 (GRCm39) |
T1005A |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,103,396 (GRCm39) |
T38A |
probably benign |
Het |
| Mapkapk5 |
G |
A |
5: 121,665,241 (GRCm39) |
A338V |
possibly damaging |
Het |
| Morc2a |
C |
A |
11: 3,631,737 (GRCm39) |
T556K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,462,139 (GRCm39) |
Q7459* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,228,439 (GRCm39) |
T1256A |
possibly damaging |
Het |
| Or1e21 |
T |
A |
11: 73,344,384 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or4b12 |
A |
G |
2: 90,095,922 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,309 (GRCm39) |
C256R |
probably damaging |
Het |
| Or7g20 |
G |
T |
9: 18,946,774 (GRCm39) |
M118I |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,358 (GRCm39) |
I199V |
probably benign |
Het |
| Or9s18 |
T |
G |
13: 65,300,538 (GRCm39) |
C167G |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,975,464 (GRCm39) |
V701A |
possibly damaging |
Het |
| Plxnb2 |
A |
T |
15: 89,046,261 (GRCm39) |
I918N |
probably damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,184,711 (GRCm39) |
T549A |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,512 (GRCm39) |
I559V |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,141,975 (GRCm39) |
T200A |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,821,105 (GRCm39) |
I488V |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,467,221 (GRCm39) |
M93L |
probably damaging |
Het |
| Zfp870 |
A |
T |
17: 33,104,966 (GRCm39) |
V31E |
possibly 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 |
|
|
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 |
|
|
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'- CAGTCACCTTTGAGTCACCC -3'
(R):5'- CTTGGTTGCCATAGATAAATGTTGTAG -3'
Sequencing Primer
(F):5'- GTGCTATTTAATTCAAGGCAAAACTC -3'
(R):5'- TCGTTCGATCCAGGATTCAGAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation