Incidental Mutation 'R5009:Pold1'
| ID |
452862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
042600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5009 (G1)
|
| Quality Score |
54 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44183326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 977
(A977E)
|
| 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 |
probably benign
Transcript: ENSMUST00000049343
AA Change: A977E
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: A977E
| 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 |
noncoding transcript
Transcript: ENSMUST00000147503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151793
AA Change: Q943K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: Q943K
| 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: ENSMUST00000154783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205506
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (91/91) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
T |
A |
3: 37,487,426 (GRCm39) |
|
probably benign |
Het |
| Aim2 |
T |
C |
1: 173,282,932 (GRCm39) |
Y5H |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,171 (GRCm39) |
E257K |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,714 (GRCm39) |
S375P |
possibly damaging |
Het |
| BC106179 |
C |
A |
16: 23,043,192 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
A |
1: 146,776,787 (GRCm39) |
N411K |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 29,801,289 (GRCm39) |
V1386A |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,252 (GRCm39) |
Y455F |
probably damaging |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
| Dot1l |
G |
T |
10: 80,607,030 (GRCm39) |
R108L |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,128,968 (GRCm39) |
S1413P |
probably damaging |
Het |
| Eea1 |
C |
A |
10: 95,846,883 (GRCm39) |
R388S |
probably benign |
Het |
| Elavl1 |
C |
T |
8: 4,351,723 (GRCm39) |
R131Q |
probably benign |
Het |
| Erich6b |
A |
G |
14: 75,902,596 (GRCm39) |
T138A |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,662,394 (GRCm39) |
T4I |
probably damaging |
Het |
| Ets1 |
T |
C |
9: 32,644,295 (GRCm39) |
S152P |
possibly damaging |
Het |
| Fcsk |
C |
T |
8: 111,614,462 (GRCm39) |
C609Y |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,547 (GRCm39) |
V295A |
probably damaging |
Het |
| Gm13196 |
A |
G |
2: 4,705,149 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5965 |
T |
A |
16: 88,575,312 (GRCm39) |
Y162N |
probably benign |
Het |
| Gm7853 |
A |
T |
14: 35,811,466 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8126 |
C |
T |
14: 43,119,065 (GRCm39) |
A178V |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,570 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,774,858 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gsdme |
C |
T |
6: 50,222,992 (GRCm39) |
V108M |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,039,102 (GRCm39) |
Y157C |
probably benign |
Het |
| Gvin3 |
A |
G |
7: 106,200,767 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep1 |
T |
A |
13: 42,312,229 (GRCm39) |
F1490I |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,459,168 (GRCm39) |
V773A |
probably benign |
Het |
| Kctd8 |
T |
A |
5: 69,268,076 (GRCm39) |
T345S |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,957,763 (GRCm39) |
S1243P |
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,298,712 (GRCm39) |
V99A |
possibly damaging |
Het |
| Lars1 |
T |
G |
18: 42,354,612 (GRCm39) |
E778D |
probably benign |
Het |
| Map7 |
C |
T |
10: 20,137,664 (GRCm39) |
R279* |
probably null |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,466,583 (GRCm39) |
D532G |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,719,877 (GRCm39) |
V597I |
probably benign |
Het |
| Necab1 |
A |
G |
4: 14,947,503 (GRCm39) |
|
probably benign |
Het |
| Nisch |
C |
T |
14: 30,909,186 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,013,531 (GRCm39) |
D573G |
probably benign |
Het |
| Noct |
C |
A |
3: 51,155,482 (GRCm39) |
N83K |
probably damaging |
Het |
| Or10am5 |
A |
G |
7: 6,517,546 (GRCm39) |
L294P |
probably damaging |
Het |
| Or1b1 |
C |
T |
2: 36,995,467 (GRCm39) |
R65H |
possibly damaging |
Het |
| Or2a12 |
C |
A |
6: 42,904,367 (GRCm39) |
D67E |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,435 (GRCm39) |
N264S |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,055 (GRCm39) |
I106V |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,751 (GRCm39) |
A311T |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,969,484 (GRCm39) |
H51R |
probably benign |
Het |
| Osgepl1 |
T |
A |
1: 53,357,339 (GRCm39) |
V167D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,887,489 (GRCm39) |
E354G |
probably damaging |
Het |
| Pgghg |
A |
C |
7: 140,523,303 (GRCm39) |
D194A |
probably benign |
Het |
| Podnl1 |
A |
T |
8: 84,852,887 (GRCm39) |
H19L |
probably benign |
Het |
| Poldip3 |
T |
C |
15: 83,017,395 (GRCm39) |
T227A |
probably damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,489 (GRCm39) |
S59G |
possibly damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,582,731 (GRCm39) |
I526N |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,184,032 (GRCm39) |
S1615P |
possibly damaging |
Het |
| Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
| Rab15 |
T |
C |
12: 76,847,341 (GRCm39) |
E114G |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,586,550 (GRCm39) |
E103G |
probably benign |
Het |
| Repin1 |
T |
A |
6: 48,571,779 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,239 (GRCm39) |
V433A |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,865,231 (GRCm39) |
I314T |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,338,414 (GRCm39) |
S190A |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,623,916 (GRCm39) |
H300Q |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,297,157 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
C |
10: 88,745,516 (GRCm39) |
S375P |
probably benign |
Het |
| Spns3 |
C |
A |
11: 72,428,027 (GRCm39) |
W251L |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,067,789 (GRCm39) |
N2072S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,016 (GRCm39) |
V1351A |
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,030,523 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,568,435 (GRCm39) |
D1374G |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,083,567 (GRCm39) |
S337P |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,686,977 (GRCm39) |
D303V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,683,250 (GRCm39) |
|
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
T |
G |
7: 86,451,015 (GRCm39) |
D300E |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,365 (GRCm39) |
N621K |
probably benign |
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 |
|
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 |
|
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'- TGATGGTCGATTACGGAGCG -3'
(R):5'- CAGATACAGTGTGTAGCTCTCTAG -3'
Sequencing Primer
(F):5'- AACAGTTGCGGCGCTTG -3'
(R):5'- TAGCCCCTAGCCCATGC -3'
|
| Posted On |
2017-01-20 |
Incidental Mutation