Incidental Mutation 'R5150:Pold1'
ID |
395306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pold1
|
Ensembl Gene |
ENSMUSG00000038644 |
Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
Synonyms |
125kDa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5150 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44185256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 750
(V750A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035323]
[ENSMUST00000049343]
[ENSMUST00000098483]
[ENSMUST00000151793]
[ENSMUST00000205506]
|
AlphaFold |
P52431 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035323
|
SMART Domains |
Protein: ENSMUSP00000035539 Gene: ENSMUSG00000008193
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
58 |
N/A |
INTRINSIC |
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
ETS
|
173 |
261 |
2.05e-41 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049343
AA Change: V750A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039776 Gene: ENSMUSG00000038644 AA Change: V750A
Domain | Start | End | E-Value | Type |
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
Blast:POLBc
|
65 |
108 |
1e-7 |
BLAST |
low complexity region
|
212 |
225 |
N/A |
INTRINSIC |
Blast:POLBc
|
227 |
279 |
1e-19 |
BLAST |
POLBc
|
306 |
763 |
2.53e-161 |
SMART |
Blast:POLBc
|
790 |
837 |
1e-18 |
BLAST |
Pfam:zf-C4pol
|
1010 |
1080 |
5.1e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098483
|
SMART Domains |
Protein: ENSMUSP00000096084 Gene: ENSMUSG00000008193
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
low complexity region
|
177 |
189 |
N/A |
INTRINSIC |
ETS
|
191 |
279 |
2.05e-41 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141742
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151793
AA Change: V750A
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117157 Gene: ENSMUSG00000038644 AA Change: V750A
Domain | Start | End | E-Value | Type |
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
Blast:POLBc
|
66 |
108 |
1e-7 |
BLAST |
low complexity region
|
212 |
225 |
N/A |
INTRINSIC |
Blast:POLBc
|
227 |
279 |
1e-19 |
BLAST |
POLBc
|
306 |
763 |
7.8e-164 |
SMART |
Blast:POLBc
|
790 |
837 |
1e-18 |
BLAST |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
low complexity region
|
959 |
980 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147503
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184044
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205506
|
Meta Mutation Damage Score |
0.5413 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
93% (57/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012] PHENOTYPE: Mice homozygous for disruptions in this gene have an elevated mutation rate as well as an increased incidence of tumors. Median age for these mice is around 10 months. [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 |
Adam33 |
T |
C |
2: 130,895,117 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,988,268 (GRCm39) |
V3184A |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,084 (GRCm39) |
N320S |
possibly damaging |
Het |
Bin2 |
T |
C |
15: 100,543,244 (GRCm39) |
E313G |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,782,950 (GRCm39) |
A109S |
probably damaging |
Het |
C9orf72 |
A |
G |
4: 35,193,270 (GRCm39) |
S228P |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,096,265 (GRCm39) |
D253G |
possibly damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,384 (GRCm39) |
T778A |
probably benign |
Het |
Cops3 |
C |
A |
11: 59,710,839 (GRCm39) |
D377Y |
probably damaging |
Het |
Cyp4a14 |
A |
C |
4: 115,350,806 (GRCm39) |
V156G |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Disp1 |
C |
A |
1: 182,871,063 (GRCm39) |
M452I |
probably damaging |
Het |
Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
Fbxo45 |
C |
A |
16: 32,065,524 (GRCm39) |
|
probably benign |
Het |
Flrt2 |
T |
A |
12: 95,745,977 (GRCm39) |
M105K |
possibly damaging |
Het |
Gm26558 |
G |
A |
2: 70,491,656 (GRCm39) |
|
probably benign |
Het |
Gpr83 |
T |
G |
9: 14,772,101 (GRCm39) |
L91R |
probably damaging |
Het |
Greb1l |
TTTAATAACTT |
TTT |
18: 10,555,950 (GRCm39) |
|
probably null |
Het |
Hmces |
T |
A |
6: 87,910,217 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Ksr2 |
A |
C |
5: 117,693,074 (GRCm39) |
E174A |
probably damaging |
Het |
Lats1 |
A |
G |
10: 7,588,415 (GRCm39) |
T1011A |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,957 (GRCm39) |
D120G |
probably damaging |
Het |
Ncstn |
C |
A |
1: 171,895,151 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,059,130 (GRCm39) |
T6118A |
probably benign |
Het |
Nipsnap2 |
A |
C |
5: 129,834,175 (GRCm39) |
M272L |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or13c7c |
A |
G |
4: 43,836,301 (GRCm39) |
L63P |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or4f15 |
T |
A |
2: 111,814,366 (GRCm39) |
T18S |
probably benign |
Het |
Or4f61 |
T |
A |
2: 111,922,880 (GRCm39) |
L55F |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,598 (GRCm39) |
D84E |
probably damaging |
Het |
Or5b118 |
A |
T |
19: 13,448,794 (GRCm39) |
Q153H |
probably benign |
Het |
Prdm11 |
C |
T |
2: 92,805,817 (GRCm39) |
E378K |
probably damaging |
Het |
Ptpn9 |
A |
G |
9: 56,943,954 (GRCm39) |
D276G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,369 (GRCm39) |
F1204I |
probably damaging |
Het |
Robo1 |
C |
A |
16: 72,769,192 (GRCm39) |
T537K |
possibly damaging |
Het |
Sec31b |
T |
A |
19: 44,508,970 (GRCm39) |
M670L |
probably benign |
Het |
Sephs1 |
T |
A |
2: 4,904,321 (GRCm39) |
V233E |
possibly damaging |
Het |
Serpinb2 |
T |
C |
1: 107,450,939 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,550,008 (GRCm39) |
Q670R |
possibly damaging |
Het |
Slc8a2 |
A |
C |
7: 15,879,101 (GRCm39) |
D529A |
possibly damaging |
Het |
Sva |
A |
G |
6: 42,019,093 (GRCm39) |
N88D |
probably benign |
Het |
Tcf15 |
G |
T |
2: 151,986,051 (GRCm39) |
R169L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,752 (GRCm39) |
T188A |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,031,340 (GRCm39) |
K1023* |
probably null |
Het |
Ttc28 |
A |
G |
5: 111,373,555 (GRCm39) |
N966S |
probably damaging |
Het |
Unc5c |
T |
A |
3: 141,463,554 (GRCm39) |
I225N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,184,067 (GRCm39) |
L1457S |
possibly damaging |
Het |
Zbtb34 |
G |
T |
2: 33,301,133 (GRCm39) |
H469Q |
probably damaging |
Het |
Zfp692 |
T |
C |
11: 58,198,413 (GRCm39) |
M1T |
probably null |
Het |
|
Other mutations in Pold1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:Pold1
|
APN |
7 |
44,192,656 (GRCm39) |
splice site |
probably benign |
|
IGL01626:Pold1
|
APN |
7 |
44,182,796 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01635:Pold1
|
APN |
7 |
44,185,401 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Pold1
|
APN |
7 |
44,187,484 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02197:Pold1
|
APN |
7 |
44,191,663 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02579:Pold1
|
APN |
7 |
44,192,703 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03104:Pold1
|
APN |
7 |
44,190,004 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03118:Pold1
|
APN |
7 |
44,188,824 (GRCm39) |
missense |
probably benign |
0.17 |
PIT4243001:Pold1
|
UTSW |
7 |
44,191,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
PIT4431001:Pold1
|
UTSW |
7 |
44,188,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R0184:Pold1
|
UTSW |
7 |
44,191,139 (GRCm39) |
missense |
probably benign |
0.32 |
R0266:Pold1
|
UTSW |
7 |
44,190,449 (GRCm39) |
splice site |
probably benign |
|
R0537:Pold1
|
UTSW |
7 |
44,184,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R1251:Pold1
|
UTSW |
7 |
44,184,475 (GRCm39) |
missense |
probably benign |
0.02 |
R1348:Pold1
|
UTSW |
7 |
44,184,106 (GRCm39) |
missense |
probably benign |
0.00 |
R1376:Pold1
|
UTSW |
7 |
44,189,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Pold1
|
UTSW |
7 |
44,189,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R1445:Pold1
|
UTSW |
7 |
44,192,181 (GRCm39) |
splice site |
probably benign |
|
R2156:Pold1
|
UTSW |
7 |
44,188,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R2256:Pold1
|
UTSW |
7 |
44,183,223 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2259:Pold1
|
UTSW |
7 |
44,190,908 (GRCm39) |
splice site |
probably benign |
|
R2870:Pold1
|
UTSW |
7 |
44,192,771 (GRCm39) |
synonymous |
silent |
|
R3793:Pold1
|
UTSW |
7 |
44,190,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4493:Pold1
|
UTSW |
7 |
44,187,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Pold1
|
UTSW |
7 |
44,188,337 (GRCm39) |
missense |
probably damaging |
0.97 |
R4661:Pold1
|
UTSW |
7 |
44,182,233 (GRCm39) |
missense |
probably damaging |
0.99 |
R4738:Pold1
|
UTSW |
7 |
44,190,753 (GRCm39) |
missense |
probably damaging |
0.99 |
R4769:Pold1
|
UTSW |
7 |
44,184,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Pold1
|
UTSW |
7 |
44,191,325 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5009:Pold1
|
UTSW |
7 |
44,183,326 (GRCm39) |
missense |
probably benign |
0.13 |
R5534:Pold1
|
UTSW |
7 |
44,188,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Pold1
|
UTSW |
7 |
44,190,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Pold1
|
UTSW |
7 |
44,187,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6127:Pold1
|
UTSW |
7 |
44,191,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R6232:Pold1
|
UTSW |
7 |
44,190,266 (GRCm39) |
critical splice donor site |
probably null |
|
R6435:Pold1
|
UTSW |
7 |
44,188,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R6436:Pold1
|
UTSW |
7 |
44,188,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R6437:Pold1
|
UTSW |
7 |
44,188,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Pold1
|
UTSW |
7 |
44,191,630 (GRCm39) |
missense |
probably benign |
|
R7049:Pold1
|
UTSW |
7 |
44,190,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7158:Pold1
|
UTSW |
7 |
44,188,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Pold1
|
UTSW |
7 |
44,191,572 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7235:Pold1
|
UTSW |
7 |
44,191,244 (GRCm39) |
missense |
probably benign |
0.00 |
R7372:Pold1
|
UTSW |
7 |
44,192,847 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7511:Pold1
|
UTSW |
7 |
44,191,614 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7797:Pold1
|
UTSW |
7 |
44,191,213 (GRCm39) |
missense |
probably benign |
0.00 |
R9037:Pold1
|
UTSW |
7 |
44,188,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R9479:Pold1
|
UTSW |
7 |
44,191,079 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pold1
|
UTSW |
7 |
44,191,656 (GRCm39) |
missense |
probably benign |
|
Z1176:Pold1
|
UTSW |
7 |
44,191,204 (GRCm39) |
missense |
probably benign |
0.15 |
Z1177:Pold1
|
UTSW |
7 |
44,191,382 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCACACTACTGTACTGTCATAGG -3'
(R):5'- ACAGAGTGTCACTGGGTTCG -3'
Sequencing Primer
(F):5'- CTGTACTGTCATAGGAGACCATC -3'
(R):5'- CGGGCGGCAGATGATTG -3'
|
Posted On |
2016-06-21 |