Incidental Mutation 'R5164:Pms1'
ID |
395574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pms1
|
Ensembl Gene |
ENSMUSG00000026098 |
Gene Name |
PMS1 homolog 1, mismatch repair system component |
Synonyms |
|
MMRRC Submission |
042745-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5164 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
53228346-53336177 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53246799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 301
(V301A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027267]
[ENSMUST00000135246]
|
AlphaFold |
Q8K119 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027267
AA Change: V301A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027267 Gene: ENSMUSG00000026098 AA Change: V301A
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 damaging
Transcript: ENSMUST00000135246
AA Change: V301A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119632 Gene: ENSMUSG00000026098 AA Change: V301A
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 |
0.5787 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (49/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,583,793 (GRCm39) |
H4637Q |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,189,249 (GRCm39) |
H2221R |
probably benign |
Het |
Arsj |
A |
T |
3: 126,231,808 (GRCm39) |
M185L |
probably benign |
Het |
Ccdc177 |
T |
C |
12: 80,805,336 (GRCm39) |
T313A |
unknown |
Het |
Cdkal1 |
A |
T |
13: 29,809,702 (GRCm39) |
L214H |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,965,675 (GRCm39) |
K445R |
probably damaging |
Het |
Chrnb3 |
T |
A |
8: 27,884,160 (GRCm39) |
I299N |
probably damaging |
Het |
Cse1l |
C |
A |
2: 166,786,348 (GRCm39) |
D826E |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,475,511 (GRCm39) |
V816A |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,408,438 (GRCm39) |
E3474D |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,055,110 (GRCm39) |
Y585* |
probably null |
Het |
Ebf2 |
T |
C |
14: 67,627,970 (GRCm39) |
S322P |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,672,983 (GRCm39) |
E267G |
possibly damaging |
Het |
Fkbp5 |
A |
G |
17: 28,656,964 (GRCm39) |
|
probably null |
Het |
Gbp4 |
T |
A |
5: 105,284,743 (GRCm39) |
K49* |
probably null |
Het |
Gramd4 |
A |
T |
15: 85,985,032 (GRCm39) |
T98S |
probably benign |
Het |
Hectd1 |
C |
A |
12: 51,874,272 (GRCm39) |
M1I |
probably null |
Het |
Hsd17b8 |
A |
G |
17: 34,245,952 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
C |
1: 58,574,597 (GRCm39) |
T315A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Keg1 |
A |
G |
19: 12,692,044 (GRCm39) |
|
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,917,880 (GRCm39) |
V88E |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,640,147 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,759,011 (GRCm39) |
|
probably null |
Het |
Nrdc |
C |
T |
4: 108,896,914 (GRCm39) |
T511I |
probably damaging |
Het |
Odad4 |
G |
A |
11: 100,462,346 (GRCm39) |
W506* |
probably null |
Het |
Or4c106 |
T |
A |
2: 88,682,914 (GRCm39) |
L207I |
probably benign |
Het |
Or5p6 |
G |
A |
7: 107,631,487 (GRCm39) |
T21I |
possibly damaging |
Het |
Or8k24 |
T |
C |
2: 86,215,815 (GRCm39) |
T316A |
probably benign |
Het |
Pnisr |
A |
T |
4: 21,859,237 (GRCm39) |
Q144L |
possibly damaging |
Het |
Pp2d1 |
G |
T |
17: 53,815,098 (GRCm39) |
T542K |
probably benign |
Het |
Ppargc1b |
A |
T |
18: 61,435,715 (GRCm39) |
C922S |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,018,995 (GRCm39) |
|
probably null |
Het |
Runx3 |
T |
C |
4: 134,848,441 (GRCm39) |
S9P |
possibly damaging |
Het |
Serpina1b |
A |
G |
12: 103,698,346 (GRCm39) |
S168P |
probably benign |
Het |
Slc14a2 |
G |
A |
18: 78,200,487 (GRCm39) |
A722V |
probably damaging |
Het |
Slc23a2 |
T |
A |
2: 131,917,370 (GRCm39) |
|
probably benign |
Het |
Slc47a1 |
A |
G |
11: 61,243,886 (GRCm39) |
|
probably null |
Het |
Tcf20 |
A |
G |
15: 82,740,804 (GRCm39) |
S216P |
probably damaging |
Het |
Tpst1 |
T |
A |
5: 130,130,842 (GRCm39) |
I104N |
probably damaging |
Het |
Ufm1 |
A |
C |
3: 53,765,348 (GRCm39) |
|
probably benign |
Het |
Unkl |
A |
G |
17: 25,432,083 (GRCm39) |
|
probably null |
Het |
Usf3 |
T |
C |
16: 44,038,543 (GRCm39) |
S1008P |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,237,677 (GRCm39) |
V6A |
possibly damaging |
Het |
Zc3h3 |
A |
T |
15: 75,648,875 (GRCm39) |
S752R |
probably benign |
Het |
Zfp268 |
T |
C |
4: 145,348,775 (GRCm39) |
Y71H |
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 |
|
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'- AGTGGTCCGTAACAGGTCATC -3'
(R):5'- TTCTTCCCAAAGCACGATGC -3'
Sequencing Primer
(F):5'- TGGTCCGTAACAGGTCATCATCAG -3'
(R):5'- GTCCTGCAAGAATGTCTGTACCAAG -3'
|
Posted On |
2016-06-21 |