Incidental Mutation 'R6802:Pms1'
ID |
533362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pms1
|
Ensembl Gene |
ENSMUSG00000026098 |
Gene Name |
PMS1 homolog 1, mismatch repair system component |
Synonyms |
|
MMRRC Submission |
044915-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6802 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 53245951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 529
(S529R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000135246]
|
AlphaFold |
Q8K119 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027267
AA Change: S529R
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000027267 Gene: ENSMUSG00000026098 AA Change: S529R
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: ENSMUST00000135246
AA Change: S529R
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000119632 Gene: ENSMUSG00000026098 AA Change: S529R
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (54/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
Agap3 |
T |
A |
5: 24,692,791 (GRCm39) |
I408N |
possibly damaging |
Het |
Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fbxo30 |
G |
T |
10: 11,167,224 (GRCm39) |
G649C |
probably damaging |
Het |
Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
Hsf4 |
G |
A |
8: 106,001,300 (GRCm39) |
G309S |
probably damaging |
Het |
Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
Pacs1 |
T |
C |
19: 5,202,812 (GRCm39) |
I357V |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTGGAGACCTACTTGTGC -3'
(R):5'- ACACTTCCTGAGAAAGCTCTG -3'
Sequencing Primer
(F):5'- GGAGACCTACTTGTGCTTTTCC -3'
(R):5'- GCTCTGGAAATCTGTGCAGAC -3'
|
Posted On |
2018-09-12 |