Incidental Mutation 'R9037:Pold1'
| ID |
687469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
068969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R9037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44188339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 513
(D513G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049343
AA Change: D513G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: D513G
| 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: ENSMUST00000145956
|
| SMART Domains |
Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
58 |
N/A |
INTRINSIC |
|
Blast:POLBc
|
65 |
108 |
2e-8 |
BLAST |
|
PDB:3IAY|A
|
76 |
151 |
7e-8 |
PDB |
|
SCOP:d1tgoa1
|
117 |
153 |
3e-10 |
SMART |
|
Blast:POLBc
|
130 |
153 |
7e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151793
AA Change: D513G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: D513G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
T |
A |
18: 61,952,066 (GRCm39) |
I432F |
probably benign |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,087,325 (GRCm39) |
T400A |
possibly damaging |
Het |
| Afap1l2 |
A |
T |
19: 56,918,403 (GRCm39) |
|
probably benign |
Het |
| Anapc4 |
C |
A |
5: 53,021,843 (GRCm39) |
Q642K |
probably benign |
Het |
| Ano8 |
A |
G |
8: 71,937,088 (GRCm39) |
F160S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,066,501 (GRCm39) |
V4490A |
probably benign |
Het |
| Bcar1 |
A |
C |
8: 112,447,522 (GRCm39) |
F152V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,386,395 (GRCm39) |
D174G |
probably benign |
Het |
| Capn11 |
T |
C |
17: 45,950,357 (GRCm39) |
K328R |
probably benign |
Het |
| Colq |
C |
A |
14: 31,279,744 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
A |
C |
7: 126,299,772 (GRCm39) |
M350R |
probably benign |
Het |
| Ctbp1 |
T |
A |
5: 33,424,352 (GRCm39) |
M24L |
probably benign |
Het |
| Cyp2c55 |
T |
A |
19: 39,030,537 (GRCm39) |
F456L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,248,104 (GRCm39) |
K747M |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,803,791 (GRCm39) |
D3048G |
unknown |
Het |
| Esp36 |
C |
T |
17: 38,729,840 (GRCm39) |
G60D |
unknown |
Het |
| Gast |
A |
G |
11: 100,227,436 (GRCm39) |
E43G |
probably damaging |
Het |
| Gm5849 |
T |
G |
3: 90,685,155 (GRCm39) |
N10T |
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,793,524 (GRCm39) |
S62P |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,832,665 (GRCm39) |
D903G |
possibly damaging |
Het |
| Hk2 |
T |
A |
6: 82,720,339 (GRCm39) |
I201F |
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,664 (GRCm39) |
D118G |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,420,400 (GRCm39) |
K1079E |
possibly damaging |
Het |
| Igsf9 |
T |
C |
1: 172,312,081 (GRCm39) |
V9A |
probably benign |
Het |
| Ints2 |
G |
A |
11: 86,106,530 (GRCm39) |
T960I |
probably benign |
Het |
| Klk12 |
T |
C |
7: 43,419,139 (GRCm39) |
W35R |
probably damaging |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,518 (GRCm39) |
N3081S |
probably benign |
Het |
| Mal2 |
A |
G |
15: 54,434,939 (GRCm39) |
N12S |
unknown |
Het |
| Mgat1 |
T |
G |
11: 49,152,256 (GRCm39) |
N246K |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,439,190 (GRCm39) |
V216E |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,557 (GRCm39) |
|
probably benign |
Het |
| Mtmr9 |
T |
A |
14: 63,761,532 (GRCm39) |
T541S |
possibly damaging |
Het |
| Or4a73 |
C |
T |
2: 89,421,051 (GRCm39) |
R136Q |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,382 (GRCm39) |
H25L |
probably benign |
Het |
| Or5ak25 |
T |
C |
2: 85,269,139 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or8k3 |
G |
T |
2: 86,059,042 (GRCm39) |
T91K |
probably benign |
Het |
| P2rx6 |
A |
G |
16: 17,388,307 (GRCm39) |
T328A |
possibly damaging |
Het |
| Pcdhb12 |
A |
C |
18: 37,569,229 (GRCm39) |
E125A |
probably benign |
Het |
| Pde3a |
C |
A |
6: 141,416,832 (GRCm39) |
Q569K |
probably damaging |
Het |
| Pepd |
A |
T |
7: 34,720,398 (GRCm39) |
Q227L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,225,902 (GRCm39) |
E911D |
probably benign |
Het |
| Pnpla6 |
A |
T |
8: 3,592,379 (GRCm39) |
R1241* |
probably null |
Het |
| Polr1d |
A |
T |
5: 147,015,490 (GRCm39) |
I58L |
probably benign |
Het |
| Ppif |
T |
C |
14: 25,694,828 (GRCm39) |
L58P |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,590 (GRCm39) |
K101R |
probably benign |
Het |
| Psma8 |
G |
T |
18: 14,854,251 (GRCm39) |
V44L |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,036 (GRCm39) |
Y122C |
possibly damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,790,317 (GRCm39) |
T12A |
probably benign |
Het |
| Rasal3 |
C |
A |
17: 32,614,094 (GRCm39) |
R587L |
probably benign |
Het |
| Rnf146 |
T |
C |
10: 29,223,676 (GRCm39) |
K70R |
probably benign |
Het |
| Serpinb6b |
G |
T |
13: 33,161,998 (GRCm39) |
E266* |
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,582,725 (GRCm39) |
M252K |
probably benign |
Het |
| Slc2a1 |
T |
C |
4: 118,993,494 (GRCm39) |
F444L |
probably damaging |
Het |
| Sox9 |
A |
G |
11: 112,675,650 (GRCm39) |
S280G |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,856,944 (GRCm39) |
K861E |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,961,539 (GRCm39) |
V1243A |
probably benign |
Het |
| Trpv2 |
A |
T |
11: 62,475,231 (GRCm39) |
T215S |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,299,981 (GRCm39) |
E490G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 187,995,487 (GRCm39) |
D86V |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,236,251 (GRCm39) |
T980A |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,236,268 (GRCm39) |
V74A |
probably benign |
Het |
| Zan |
A |
G |
5: 137,452,578 (GRCm39) |
V1501A |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,758,836 (GRCm39) |
E169G |
possibly damaging |
Het |
| Zfp788 |
C |
T |
7: 41,298,315 (GRCm39) |
T317I |
probably damaging |
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 |
|
R5150:Pold1
|
UTSW |
7 |
44,185,256 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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'- TTCACCACAGGCATCAGCAG -3'
(R):5'- AGGACGTTCAGCACAGCATC -3'
Sequencing Primer
(F):5'- CGGAGTGAGTATCCGGGTAC -3'
(R):5'- TCATCACCGACCTGCAGG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation