Incidental Mutation 'IGL01433:Pold1'
ID |
84258 |
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 # |
IGL01433
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 44192656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
AlphaFold |
P52431 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000132268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138746
|
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 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: ENSMUST00000208368
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actrt3 |
C |
T |
3: 30,652,188 (GRCm39) |
G302D |
probably damaging |
Het |
Adam19 |
T |
C |
11: 46,003,610 (GRCm39) |
L146P |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,609,263 (GRCm39) |
Y852F |
possibly damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,657 (GRCm39) |
T1520A |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,706,590 (GRCm39) |
V199I |
probably benign |
Het |
Avl9 |
A |
G |
6: 56,730,382 (GRCm39) |
D575G |
probably damaging |
Het |
Bcam |
C |
A |
7: 19,494,107 (GRCm39) |
V395L |
possibly damaging |
Het |
Bltp1 |
T |
G |
3: 36,941,919 (GRCm39) |
S241R |
probably damaging |
Het |
Ccdc198 |
G |
T |
14: 49,473,341 (GRCm39) |
T128K |
probably benign |
Het |
Cgn |
T |
A |
3: 94,686,769 (GRCm39) |
N178Y |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,776,098 (GRCm39) |
D168E |
probably damaging |
Het |
Dnah17 |
G |
T |
11: 117,940,760 (GRCm39) |
T3288K |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,080,626 (GRCm39) |
I96N |
probably damaging |
Het |
Gdpd3 |
A |
G |
7: 126,370,356 (GRCm39) |
I264V |
possibly damaging |
Het |
Itih4 |
T |
C |
14: 30,617,405 (GRCm39) |
V575A |
probably benign |
Het |
Jhy |
G |
A |
9: 40,828,512 (GRCm39) |
R465C |
possibly damaging |
Het |
Kcna4 |
C |
T |
2: 107,127,078 (GRCm39) |
S604F |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,814 (GRCm39) |
V99A |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,392,888 (GRCm39) |
I489T |
possibly damaging |
Het |
Kif13a |
A |
G |
13: 46,926,384 (GRCm39) |
S241P |
probably damaging |
Het |
Lax1 |
T |
C |
1: 133,608,137 (GRCm39) |
I201M |
probably benign |
Het |
Lzic |
T |
A |
4: 149,572,604 (GRCm39) |
S65T |
probably benign |
Het |
Marchf9 |
T |
C |
10: 126,892,562 (GRCm39) |
T309A |
probably benign |
Het |
Ndufc1 |
T |
C |
3: 51,314,797 (GRCm39) |
K70E |
possibly damaging |
Het |
Optn |
T |
C |
2: 5,031,955 (GRCm39) |
K504R |
probably benign |
Het |
Or51q1 |
A |
T |
7: 103,628,539 (GRCm39) |
I53F |
probably damaging |
Het |
Pagr1a |
A |
G |
7: 126,614,647 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,412,741 (GRCm39) |
I1786T |
probably damaging |
Het |
Rgs20 |
T |
C |
1: 5,140,300 (GRCm39) |
D34G |
possibly damaging |
Het |
Rnps1 |
T |
C |
17: 24,643,519 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
C |
14: 52,363,834 (GRCm39) |
V261A |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,247,935 (GRCm39) |
N220S |
probably benign |
Het |
Slc35f1 |
T |
A |
10: 52,949,542 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
T |
C |
10: 75,906,329 (GRCm39) |
|
probably benign |
Het |
Snx19 |
A |
G |
9: 30,340,067 (GRCm39) |
I402V |
possibly damaging |
Het |
Spaca6 |
T |
C |
17: 18,051,429 (GRCm39) |
V35A |
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,657 (GRCm39) |
T66A |
probably benign |
Het |
Tanc2 |
C |
T |
11: 105,701,348 (GRCm39) |
H288Y |
possibly damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,804,164 (GRCm39) |
Q393R |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,854,276 (GRCm39) |
Y133C |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,448,817 (GRCm39) |
D120G |
probably benign |
Het |
Vmn2r56 |
C |
A |
7: 12,449,541 (GRCm39) |
M232I |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,373,274 (GRCm39) |
|
probably null |
Het |
Zfp251 |
C |
T |
15: 76,738,755 (GRCm39) |
V113I |
probably benign |
Het |
|
Other mutations in Pold1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-11-11 |