Incidental Mutation 'R2301:Polk'
| ID |
244432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polk
|
| Ensembl Gene |
ENSMUSG00000021668 |
| Gene Name |
polymerase (DNA directed), kappa |
| Synonyms |
Dinb1 |
| MMRRC Submission |
040300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R2301 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
96617198-96679087 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96620652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 516
(E516G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022172]
[ENSMUST00000091387]
[ENSMUST00000220977]
[ENSMUST00000221645]
[ENSMUST00000221899]
[ENSMUST00000222075]
[ENSMUST00000222143]
[ENSMUST00000222389]
|
| AlphaFold |
Q9QUG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022172
AA Change: E596G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: E596G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
105 |
324 |
1.7e-47 |
PFAM |
|
Pfam:IMS_C
|
406 |
525 |
5.5e-22 |
PFAM |
|
PDB:2LSJ|B
|
559 |
582 |
9e-8 |
PDB |
|
ZnF_Rad18
|
619 |
645 |
2.89e-9 |
SMART |
|
ZnF_Rad18
|
761 |
787 |
2.31e-8 |
SMART |
|
low complexity region
|
828 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091387
AA Change: E537G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668
AA Change: E537G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
105 |
265 |
1.1e-37 |
PFAM |
|
Pfam:IMS_C
|
346 |
469 |
8.8e-19 |
PFAM |
|
PDB:2LSJ|B
|
500 |
523 |
9e-8 |
PDB |
|
ZnF_Rad18
|
560 |
586 |
2.89e-9 |
SMART |
|
ZnF_Rad18
|
702 |
728 |
2.31e-8 |
SMART |
|
low complexity region
|
769 |
780 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221899
AA Change: E516G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222268
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene that results in a truncated transcript results in a higher rate of spontaneous germline expanded simple tandem repeat mutations. Homozyogus null mice exhibit normal immunoglobulin gene somatic hypermutation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsper1 |
A |
G |
19: 5,390,426 (GRCm39) |
K602E |
probably benign |
Het |
| Chst13 |
A |
T |
6: 90,295,271 (GRCm39) |
S47R |
probably damaging |
Het |
| Clrn1 |
T |
G |
3: 58,753,773 (GRCm39) |
Y196S |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,595,394 (GRCm39) |
S2022P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,354,606 (GRCm39) |
F3123I |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,501,973 (GRCm39) |
E532K |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,899,970 (GRCm39) |
D970E |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,045,369 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2a1l |
G |
T |
17: 89,018,900 (GRCm39) |
R328L |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,491,600 (GRCm39) |
F3679L |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
| Klf10 |
A |
G |
15: 38,297,326 (GRCm39) |
V223A |
possibly damaging |
Het |
| Lyn |
G |
A |
4: 3,780,959 (GRCm39) |
R345H |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,731,512 (GRCm39) |
C63S |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,927 (GRCm39) |
T960A |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,763,996 (GRCm39) |
S27L |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,621 (GRCm39) |
V9E |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,289,236 (GRCm39) |
Y864C |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,586 (GRCm39) |
K1758E |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,166 (GRCm39) |
R636Q |
probably benign |
Het |
| Tmem139 |
G |
T |
6: 42,240,364 (GRCm39) |
C57F |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,729,926 (GRCm39) |
N375S |
probably benign |
Het |
| Tti2 |
T |
C |
8: 31,645,823 (GRCm39) |
V379A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,131 (GRCm39) |
E92G |
probably benign |
Het |
|
| Other mutations in Polk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Polk
|
APN |
13 |
96,633,268 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01803:Polk
|
APN |
13 |
96,641,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01949:Polk
|
APN |
13 |
96,620,046 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01986:Polk
|
APN |
13 |
96,620,331 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02073:Polk
|
APN |
13 |
96,641,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Polk
|
APN |
13 |
96,653,196 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03184:Polk
|
APN |
13 |
96,620,491 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03353:Polk
|
APN |
13 |
96,625,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Polk
|
UTSW |
13 |
96,641,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Polk
|
UTSW |
13 |
96,653,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Polk
|
UTSW |
13 |
96,633,330 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0357:Polk
|
UTSW |
13 |
96,641,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0485:Polk
|
UTSW |
13 |
96,620,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0555:Polk
|
UTSW |
13 |
96,620,687 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0687:Polk
|
UTSW |
13 |
96,620,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Polk
|
UTSW |
13 |
96,620,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1065:Polk
|
UTSW |
13 |
96,644,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Polk
|
UTSW |
13 |
96,620,716 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1710:Polk
|
UTSW |
13 |
96,625,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Polk
|
UTSW |
13 |
96,631,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Polk
|
UTSW |
13 |
96,633,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Polk
|
UTSW |
13 |
96,625,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Polk
|
UTSW |
13 |
96,623,490 (GRCm39) |
splice site |
probably benign |
|
|
R3934:Polk
|
UTSW |
13 |
96,638,143 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4082:Polk
|
UTSW |
13 |
96,620,181 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4307:Polk
|
UTSW |
13 |
96,633,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4472:Polk
|
UTSW |
13 |
96,630,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Polk
|
UTSW |
13 |
96,632,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4795:Polk
|
UTSW |
13 |
96,625,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Polk
|
UTSW |
13 |
96,625,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4810:Polk
|
UTSW |
13 |
96,620,003 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5002:Polk
|
UTSW |
13 |
96,625,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:Polk
|
UTSW |
13 |
96,620,047 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5415:Polk
|
UTSW |
13 |
96,620,463 (GRCm39) |
missense |
probably benign |
|
|
R5459:Polk
|
UTSW |
13 |
96,631,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Polk
|
UTSW |
13 |
96,632,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Polk
|
UTSW |
13 |
96,620,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Polk
|
UTSW |
13 |
96,620,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5801:Polk
|
UTSW |
13 |
96,620,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Polk
|
UTSW |
13 |
96,631,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6365:Polk
|
UTSW |
13 |
96,620,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6670:Polk
|
UTSW |
13 |
96,633,138 (GRCm39) |
nonsense |
probably null |
|
|
R6831:Polk
|
UTSW |
13 |
96,631,999 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6932:Polk
|
UTSW |
13 |
96,653,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Polk
|
UTSW |
13 |
96,644,728 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7654:Polk
|
UTSW |
13 |
96,633,321 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8122:Polk
|
UTSW |
13 |
96,620,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8222:Polk
|
UTSW |
13 |
96,632,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9024:Polk
|
UTSW |
13 |
96,623,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9500:Polk
|
UTSW |
13 |
96,630,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9789:Polk
|
UTSW |
13 |
96,630,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACCAATGTCTGCAGAG -3'
(R):5'- CAAGCTTTGTCATCTACTGGGG -3'
Sequencing Primer
(F):5'- CCAATGTCTGCAGAGGAAGC -3'
(R):5'- TCATCTACTGGGGATAGTCTAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation