Incidental Mutation 'R8399:Pms1'
| ID |
647742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pms1
|
| Ensembl Gene |
ENSMUSG00000026098 |
| Gene Name |
PMS1 homolog 1, mismatch repair system component |
| Synonyms |
|
| MMRRC Submission |
067762-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 53307091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000128337]
[ENSMUST00000135246]
|
| AlphaFold |
Q8K119 |
| Predicted Effect |
probably null
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 null
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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,637,289 (GRCm39) |
V3384D |
possibly damaging |
Het |
| Apba3 |
C |
A |
10: 81,104,832 (GRCm39) |
T35N |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,698 (GRCm39) |
M219V |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,452,418 (GRCm39) |
T217S |
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,512,252 (GRCm39) |
V277I |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,415,517 (GRCm39) |
R2149W |
probably damaging |
Het |
| Cers6 |
T |
C |
2: 68,692,115 (GRCm39) |
F46L |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,452,864 (GRCm39) |
I359V |
probably benign |
Het |
| Chrnb4 |
A |
C |
9: 54,951,107 (GRCm39) |
L52R |
probably benign |
Het |
| Cox6a1 |
T |
C |
5: 115,483,958 (GRCm39) |
T95A |
probably damaging |
Het |
| Def8 |
T |
A |
8: 124,182,238 (GRCm39) |
Y197* |
probably null |
Het |
| Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
| Dnaaf3 |
C |
T |
7: 4,526,936 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
A |
16: 16,139,536 (GRCm39) |
H484L |
probably damaging |
Het |
| Eml1 |
G |
A |
12: 108,504,390 (GRCm39) |
S783N |
possibly damaging |
Het |
| Frmd4a |
T |
C |
2: 4,577,244 (GRCm39) |
S367P |
probably damaging |
Het |
| Hck |
A |
C |
2: 152,980,237 (GRCm39) |
K355N |
probably damaging |
Het |
| Hexim2 |
G |
T |
11: 103,029,329 (GRCm39) |
R127L |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,178 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Htr1d |
G |
A |
4: 136,170,686 (GRCm39) |
G305E |
probably damaging |
Het |
| Ifi207 |
G |
A |
1: 173,557,844 (GRCm39) |
S298L |
unknown |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,047 (GRCm39) |
V56A |
possibly damaging |
Het |
| Ighv7-1 |
G |
A |
12: 113,860,532 (GRCm39) |
T12I |
unknown |
Het |
| Kctd14 |
T |
C |
7: 97,106,811 (GRCm39) |
L22P |
probably damaging |
Het |
| Klra17 |
T |
C |
6: 129,851,900 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
| Maf |
T |
A |
8: 116,433,251 (GRCm39) |
I118F |
unknown |
Het |
| Mppe1 |
T |
C |
18: 67,358,946 (GRCm39) |
T341A |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,703,363 (GRCm39) |
V186E |
probably benign |
Het |
| Nedd9 |
G |
T |
13: 41,471,950 (GRCm39) |
Y176* |
probably null |
Het |
| Omd |
A |
G |
13: 49,743,345 (GRCm39) |
I132V |
possibly damaging |
Het |
| Or12e10 |
A |
C |
2: 87,640,568 (GRCm39) |
M135L |
probably damaging |
Het |
| Or4a39 |
T |
C |
2: 89,237,028 (GRCm39) |
T132A |
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,620,985 (GRCm39) |
M935K |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,306,624 (GRCm39) |
T219I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Plcg2 |
T |
C |
8: 118,323,101 (GRCm39) |
Y719H |
probably damaging |
Het |
| Plk4 |
C |
T |
3: 40,763,265 (GRCm39) |
R479* |
probably null |
Het |
| Raph1 |
C |
T |
1: 60,528,477 (GRCm39) |
S928N |
unknown |
Het |
| Rtp4 |
G |
T |
16: 23,339,164 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
C |
T |
9: 63,052,440 (GRCm39) |
V510I |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,789,794 (GRCm39) |
T699A |
unknown |
Het |
| Tcp11l1 |
T |
C |
2: 104,515,720 (GRCm39) |
D381G |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,548,159 (GRCm39) |
M56K |
unknown |
Het |
| Trappc9 |
G |
A |
15: 72,924,131 (GRCm39) |
R204C |
probably damaging |
Het |
| Trmt10b |
A |
T |
4: 45,305,870 (GRCm39) |
M184L |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,640,011 (GRCm39) |
I196N |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,689 (GRCm39) |
C104* |
probably null |
Het |
| Vmn2r35 |
A |
C |
7: 7,819,897 (GRCm39) |
S124R |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,957,486 (GRCm39) |
E547G |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,606,082 (GRCm39) |
D80E |
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 |
|
|
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'- TGTGACGACAACAACAATTTTACAC -3'
(R):5'- GTGAAAATTATCTTGGTTGCCATAG -3'
Sequencing Primer
(F):5'- CGACAACAACAATTTTACACAAACAC -3'
(R):5'- TCTTGGTTGCCATAGATAAATGTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation