Incidental Mutation 'R7587:Pms1'
| ID |
587181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pms1
|
| Ensembl Gene |
ENSMUSG00000026098 |
| Gene Name |
PMS1 homolog 1, mismatch repair system component |
| Synonyms |
|
| MMRRC Submission |
045712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7587 (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 G
at 53246475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 355
(S355P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000135246]
|
| AlphaFold |
Q8K119 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027267
AA Change: S355P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: S355P
| 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: S355P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: S355P
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,585,736 (GRCm39) |
T131A |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,827,578 (GRCm39) |
V15D |
probably benign |
Het |
| Asic1 |
A |
C |
15: 99,593,471 (GRCm39) |
Q276P |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,172,496 (GRCm39) |
V158E |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,822,034 (GRCm39) |
I909N |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,093,232 (GRCm39) |
V742A |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,869,004 (GRCm39) |
F165S |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,469 (GRCm39) |
E59G |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,768,515 (GRCm39) |
V10I |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,976 (GRCm39) |
S855C |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,859 (GRCm39) |
I361V |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,822 (GRCm39) |
I1874V |
probably benign |
Het |
| Dennd2a |
T |
G |
6: 39,460,069 (GRCm39) |
K679Q |
probably damaging |
Het |
| Dio2 |
A |
G |
12: 90,696,334 (GRCm39) |
V218A |
probably benign |
Het |
| Gpr107 |
A |
T |
2: 31,058,838 (GRCm39) |
K109N |
probably benign |
Het |
| Gpr108 |
C |
T |
17: 57,543,732 (GRCm39) |
R448Q |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,288 (GRCm39) |
V932A |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,065 (GRCm39) |
T181A |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,930,080 (GRCm39) |
|
probably null |
Het |
| Lipc |
A |
G |
9: 70,726,206 (GRCm39) |
Y168H |
probably damaging |
Het |
| Lipi |
C |
T |
16: 75,347,103 (GRCm39) |
V439M |
probably benign |
Het |
| Lpp |
A |
T |
16: 24,581,029 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 40,620,729 (GRCm39) |
D3583A |
|
Het |
| Ltbr |
T |
C |
6: 125,289,315 (GRCm39) |
T165A |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,736 (GRCm39) |
I527T |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,742,887 (GRCm39) |
E1133G |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,957,591 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
G |
A |
10: 92,534,592 (GRCm39) |
T306M |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,966,510 (GRCm39) |
H207R |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,044,636 (GRCm39) |
Q110R |
probably benign |
Het |
| Or1e1b-ps1 |
C |
T |
11: 73,846,010 (GRCm39) |
Q165* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,263 (GRCm39) |
R236H |
probably benign |
Het |
| Or7g32 |
T |
A |
9: 19,408,818 (GRCm39) |
V258E |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,678,701 (GRCm39) |
D905G |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,668,965 (GRCm39) |
L195S |
probably damaging |
Het |
| Pop1 |
A |
T |
15: 34,502,559 (GRCm39) |
K82M |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,892,766 (GRCm39) |
D655E |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
A |
G |
5: 95,669,270 (GRCm39) |
T100A |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,574,616 (GRCm39) |
M1K |
probably null |
Het |
| Rffl |
T |
C |
11: 82,700,974 (GRCm39) |
D284G |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,340,942 (GRCm39) |
D110G |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,867,683 (GRCm39) |
I457K |
possibly damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,541 (GRCm39) |
M71V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,069,822 (GRCm39) |
S989N |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,305 (GRCm39) |
I356F |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,618,849 (GRCm39) |
K2251E |
possibly damaging |
Het |
| Tbce |
C |
T |
13: 14,194,327 (GRCm39) |
V111M |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,155 (GRCm39) |
L92P |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,713,778 (GRCm39) |
D735E |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,649,771 (GRCm39) |
H110R |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Unc5b |
C |
T |
10: 60,618,899 (GRCm39) |
C81Y |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,681,153 (GRCm39) |
T1041M |
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 |
|
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'- GGATGTGCTCCATAGAACCTAC -3'
(R):5'- AAACTTATGCTGTCCTAACTGTTCC -3'
Sequencing Primer
(F):5'- TGTGCTCCATAGAACCTACAGAATG -3'
(R):5'- CCTAACTGTTCCCTTATTAAAATGGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation