Incidental Mutation 'R9648:Pms1'
| ID |
726839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pms1
|
| Ensembl Gene |
ENSMUSG00000026098 |
| Gene Name |
PMS1 homolog 1, mismatch repair system component |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9648 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53314284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 87
(L87Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000126590]
[ENSMUST00000128337]
[ENSMUST00000133358]
[ENSMUST00000135246]
|
| AlphaFold |
Q8K119 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027267
AA Change: L87Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: L87Q
| 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: ENSMUST00000126590
|
| SMART Domains |
Protein: ENSMUSP00000120670
Gene: ENSMUSG00000026098
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c
|
16 |
80 |
5.3e-13 |
PFAM |
|
Pfam:HATPase_c_3
|
18 |
79 |
1.3e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128337
AA Change: L87Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115352
Gene: ENSMUSG00000026098
AA Change: L87Q
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
16 |
114 |
1.13e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133358
AA Change: L87Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122418
Gene: ENSMUSG00000026098
AA Change: L87Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c
|
16 |
87 |
1.8e-13 |
PFAM |
|
Pfam:HATPase_c_3
|
18 |
86 |
6.9e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135246
AA Change: L87Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: L87Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
G |
A |
8: 27,609,172 (GRCm39) |
V798M |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,273,245 (GRCm39) |
L1171P |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,780,707 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
T |
17: 74,938,696 (GRCm39) |
N2701Y |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,943,720 (GRCm39) |
N2720K |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,919,312 (GRCm39) |
L309S |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,234,903 (GRCm39) |
N2126S |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,313,734 (GRCm39) |
T329A |
probably benign |
Het |
| Cmas |
T |
A |
6: 142,716,935 (GRCm39) |
L276M |
probably benign |
Het |
| Cnbd1 |
A |
C |
4: 19,098,142 (GRCm39) |
|
probably null |
Het |
| Depdc1b |
A |
G |
13: 108,460,444 (GRCm39) |
N18S |
probably damaging |
Het |
| Dido1 |
C |
A |
2: 180,302,468 (GRCm39) |
R1812I |
probably damaging |
Het |
| Dnajc2 |
G |
A |
5: 21,968,478 (GRCm39) |
T403M |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,230,455 (GRCm39) |
I120F |
probably damaging |
Het |
| Egfl6 |
C |
T |
X: 165,319,235 (GRCm39) |
V379I |
probably benign |
Het |
| Foxa2 |
T |
A |
2: 147,887,799 (GRCm39) |
K12M |
probably damaging |
Het |
| Fut7 |
T |
A |
2: 25,315,336 (GRCm39) |
V198E |
probably damaging |
Het |
| Gramd1b |
A |
T |
9: 40,244,793 (GRCm39) |
V205E |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,284,770 (GRCm39) |
N510Y |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,248 (GRCm39) |
I118V |
probably benign |
Het |
| Icam1 |
T |
C |
9: 20,937,697 (GRCm39) |
F245L |
probably damaging |
Het |
| Ifna16 |
C |
T |
4: 88,595,060 (GRCm39) |
A12T |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,333,587 (GRCm39) |
T231A |
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,586,816 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
C |
2: 172,091,639 (GRCm39) |
L287P |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,478,757 (GRCm39) |
V404A |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,188,010 (GRCm39) |
I896F |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,202,746 (GRCm39) |
Y1318N |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,313 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,748 (GRCm39) |
S267T |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,943,590 (GRCm39) |
W96R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,307,318 (GRCm39) |
L950P |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,190,089 (GRCm39) |
T2816A |
probably benign |
Het |
| Pde7a |
A |
G |
3: 19,310,966 (GRCm39) |
Y87H |
probably damaging |
Het |
| Pip4k2c |
T |
C |
10: 127,041,569 (GRCm39) |
H163R |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,174,900 (GRCm39) |
L846Q |
probably damaging |
Het |
| Plppr2 |
T |
A |
9: 21,852,379 (GRCm39) |
S113T |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,436,690 (GRCm39) |
S113P |
possibly damaging |
Het |
| Rexo1 |
T |
A |
10: 80,385,540 (GRCm39) |
H506L |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,777 (GRCm39) |
I6V |
probably benign |
Het |
| Rsph3a |
T |
C |
17: 8,171,395 (GRCm39) |
M170T |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,877,688 (GRCm39) |
S156P |
unknown |
Het |
| Rtp3 |
T |
C |
9: 110,815,586 (GRCm39) |
T260A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,551,224 (GRCm39) |
F657S |
probably damaging |
Het |
| Serpind1 |
T |
A |
16: 17,154,318 (GRCm39) |
N48K |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,188,484 (GRCm39) |
D95V |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,608 (GRCm39) |
C255R |
probably damaging |
Het |
| Slc6a12 |
C |
A |
6: 121,335,661 (GRCm39) |
Y330* |
probably null |
Het |
| Slco1b2 |
T |
C |
6: 141,602,655 (GRCm39) |
Y203H |
possibly damaging |
Het |
| Spdye4a |
C |
T |
5: 143,210,848 (GRCm39) |
R74K |
probably benign |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Stat1 |
A |
T |
1: 52,165,695 (GRCm39) |
D97V |
probably damaging |
Het |
| Stk11ip |
A |
G |
1: 75,505,585 (GRCm39) |
E418G |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,876 (GRCm39) |
D525G |
probably damaging |
Het |
| Tcstv7b |
C |
T |
13: 120,702,495 (GRCm39) |
P97L |
possibly damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,840 (GRCm39) |
L81Q |
probably damaging |
Het |
| Tmt1a3 |
C |
T |
15: 100,232,857 (GRCm39) |
A16V |
probably benign |
Het |
| Trim50 |
T |
A |
5: 135,395,475 (GRCm39) |
I277N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,619,806 (GRCm39) |
Q15954L |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,960,494 (GRCm39) |
K592R |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,346,599 (GRCm39) |
I2947V |
probably benign |
Het |
| Zan |
A |
C |
5: 137,405,992 (GRCm39) |
F3746V |
unknown |
Het |
| Zfp418 |
G |
A |
7: 7,185,171 (GRCm39) |
S378N |
probably benign |
Het |
| Zfp518b |
C |
G |
5: 38,830,240 (GRCm39) |
Q588H |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,204,212 (GRCm39) |
R83K |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,231,915 (GRCm39) |
R437C |
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 |
|
|
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 |
|
R9102:Pms1
|
UTSW |
1 |
53,307,021 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9294:Pms1
|
UTSW |
1 |
53,247,216 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGTCATGGCAGCAAGC -3'
(R):5'- ATTGTTTACCTTGTGTTAAATGTGAC -3'
Sequencing Primer
(F):5'- CCTTCGAGTGTTACAGCACAATGG -3'
(R):5'- ACCTTGTGTTAAATGTGACTGCAGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation