Incidental Mutation 'R4078:Pms1'
ID |
368281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pms1
|
Ensembl Gene |
ENSMUSG00000026098 |
Gene Name |
PMS1 homolog 1, mismatch repair system component |
Synonyms |
|
MMRRC Submission |
041623-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4078 (G1)
|
Quality Score |
173 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
Type of Mutation |
splice site (74 bp from exon) |
DNA Base Change (assembly) |
A to T
at 53306948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000128337]
[ENSMUST00000135246]
|
AlphaFold |
Q8K119 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027267
|
SMART Domains |
Protein: ENSMUSP00000027267 Gene: ENSMUSG00000026098
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 null
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
|
SMART Domains |
Protein: ENSMUSP00000119632 Gene: ENSMUSG00000026098
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (70/73) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
A |
T |
9: 46,215,359 (GRCm39) |
L367* |
probably null |
Het |
Agfg1 |
T |
A |
1: 82,860,008 (GRCm39) |
S312T |
possibly damaging |
Het |
Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
Ambp |
T |
A |
4: 63,068,680 (GRCm39) |
K112N |
probably damaging |
Het |
Arl5c |
A |
T |
11: 97,884,327 (GRCm39) |
I88N |
probably damaging |
Het |
Asah1 |
A |
G |
8: 41,807,119 (GRCm39) |
S102P |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cabs1 |
G |
A |
5: 88,128,161 (GRCm39) |
E271K |
probably damaging |
Het |
Car8 |
T |
C |
4: 8,169,731 (GRCm39) |
K259R |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,306,394 (GRCm39) |
Q270* |
probably null |
Het |
Cdh4 |
A |
G |
2: 179,530,966 (GRCm39) |
E616G |
possibly damaging |
Het |
Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
A |
G |
4: 155,540,128 (GRCm39) |
D975G |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,142,669 (GRCm39) |
R119L |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,790,059 (GRCm39) |
N918S |
unknown |
Het |
Colec11 |
T |
C |
12: 28,645,246 (GRCm39) |
N142D |
possibly damaging |
Het |
Cox7a2 |
G |
A |
9: 79,665,852 (GRCm39) |
Q10* |
probably null |
Het |
Cyp2b23 |
C |
A |
7: 26,372,517 (GRCm39) |
G366V |
probably damaging |
Het |
Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
Emsy |
G |
A |
7: 98,239,932 (GRCm39) |
P1108S |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
Fam151a |
G |
A |
4: 106,604,954 (GRCm39) |
G439S |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,442,159 (GRCm39) |
P1154S |
probably damaging |
Het |
Fat4 |
G |
A |
3: 39,034,169 (GRCm39) |
S2607N |
probably damaging |
Het |
Fzd7 |
T |
A |
1: 59,522,948 (GRCm39) |
M277K |
possibly damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,490 (GRCm39) |
V465A |
probably benign |
Het |
Gm38706 |
G |
T |
6: 130,460,700 (GRCm39) |
|
noncoding transcript |
Het |
Gm9758 |
T |
A |
5: 14,961,536 (GRCm39) |
|
probably null |
Het |
Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
Heatr9 |
C |
A |
11: 83,403,254 (GRCm39) |
K428N |
probably benign |
Het |
Hgs |
T |
A |
11: 120,373,874 (GRCm39) |
S723T |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,495 (GRCm39) |
K591R |
possibly damaging |
Het |
Khdrbs2 |
T |
C |
1: 32,558,895 (GRCm39) |
|
probably benign |
Het |
Lpp |
G |
A |
16: 24,500,611 (GRCm39) |
R141H |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
Mipep |
T |
A |
14: 61,083,926 (GRCm39) |
Y606N |
probably damaging |
Het |
Mroh5 |
C |
A |
15: 73,657,889 (GRCm39) |
C547F |
possibly damaging |
Het |
Nek3 |
A |
T |
8: 22,622,153 (GRCm39) |
W363R |
probably damaging |
Het |
Nphs1 |
T |
A |
7: 30,166,945 (GRCm39) |
Y717* |
probably null |
Het |
Obscn |
A |
G |
11: 58,929,189 (GRCm39) |
V6145A |
probably benign |
Het |
Optc |
T |
C |
1: 133,826,087 (GRCm39) |
H270R |
probably damaging |
Het |
Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
Or2l5 |
T |
A |
16: 19,333,982 (GRCm39) |
M135L |
possibly damaging |
Het |
Or5p80 |
T |
A |
7: 108,230,114 (GRCm39) |
M305K |
probably benign |
Het |
Or9r7 |
G |
A |
10: 129,962,587 (GRCm39) |
T113I |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,612,608 (GRCm39) |
|
probably benign |
Het |
Pramel51 |
T |
A |
12: 88,142,683 (GRCm39) |
I312F |
probably benign |
Het |
Prkg1 |
T |
C |
19: 31,562,978 (GRCm39) |
Y156C |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,476,075 (GRCm39) |
N155S |
unknown |
Het |
Rapgefl1 |
A |
G |
11: 98,740,803 (GRCm39) |
T552A |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,078,777 (GRCm39) |
H304L |
probably benign |
Het |
Stox1 |
C |
T |
10: 62,501,810 (GRCm39) |
C250Y |
probably benign |
Het |
Sult2a3 |
A |
G |
7: 13,855,662 (GRCm39) |
W65R |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Syne2 |
C |
A |
12: 76,082,398 (GRCm39) |
T4857K |
probably damaging |
Het |
Tcp1 |
T |
C |
17: 13,136,970 (GRCm39) |
L64S |
probably benign |
Het |
Thap11 |
G |
T |
8: 106,582,548 (GRCm39) |
E186* |
probably null |
Het |
Tmem67 |
A |
G |
4: 12,040,633 (GRCm39) |
|
probably null |
Het |
Trappc10 |
T |
C |
10: 78,046,216 (GRCm39) |
Y458C |
probably damaging |
Het |
Ufd1 |
A |
G |
16: 18,644,528 (GRCm39) |
Y197C |
possibly damaging |
Het |
Ung |
G |
T |
5: 114,268,684 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
G |
17: 47,985,674 (GRCm39) |
T245A |
probably damaging |
Het |
Washc1 |
A |
T |
17: 66,424,156 (GRCm39) |
E289D |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,969,011 (GRCm39) |
V450E |
probably benign |
Het |
Zcchc17 |
T |
G |
4: 130,223,418 (GRCm39) |
I123L |
possibly damaging |
Het |
Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAACGCTCTTCCTCATCTGTG -3'
(R):5'- GCATTCTCTTAGATTGCCATACAC -3'
Sequencing Primer
(F):5'- CTGTGACAATGATACTAGTGACCC -3'
(R):5'- ATTGCCATACACATTTTTGGTTTGG -3'
|
Posted On |
2016-01-15 |