Incidental Mutation 'IGL01626:Pold1'
| ID |
92789 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01626
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 44182796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000049343
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
| 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: ENSMUST00000154783
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151793
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
| 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 |
probably benign
Transcript: ENSMUST00000205506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184044
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
| Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
| Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
| Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
| Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
| Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
| Ice2 |
T |
G |
9: 69,314,614 (GRCm39) |
V42G |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,712 (GRCm39) |
D696G |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
| Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
| Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,424,798 (GRCm39) |
T115A |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,940,905 (GRCm39) |
S1086T |
possibly damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
| Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
| Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
| Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
| Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
| Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
| Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,364,920 (GRCm39) |
H27R |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation