Incidental Mutation 'R4769:Pold1'
ID |
366333 |
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 # |
R4769 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44184495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 835
(C835Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117157
(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 damaging
Transcript: ENSMUST00000049343
AA Change: C835Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039776 Gene: ENSMUSG00000038644 AA Change: C835Y
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: ENSMUST00000142483
AA Change: C265Y
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151793
AA Change: C835Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117157 Gene: ENSMUSG00000038644 AA Change: C835Y
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 |
probably benign
Transcript: ENSMUST00000205506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147503
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
C |
14: 32,382,174 (GRCm39) |
S1264A |
probably benign |
Het |
Adamts13 |
T |
G |
2: 26,898,723 (GRCm39) |
Y1361* |
probably null |
Het |
Ahrr |
A |
T |
13: 74,362,331 (GRCm39) |
D389E |
probably damaging |
Het |
Alx3 |
T |
C |
3: 107,508,007 (GRCm39) |
F172S |
probably damaging |
Het |
Antxrl |
A |
G |
14: 33,795,027 (GRCm39) |
H485R |
possibly damaging |
Het |
Aox4 |
A |
G |
1: 58,298,307 (GRCm39) |
D1091G |
probably null |
Het |
Btbd1 |
T |
A |
7: 81,455,558 (GRCm39) |
Q271L |
probably benign |
Het |
Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
Cdc14a |
C |
T |
3: 116,088,399 (GRCm39) |
|
probably null |
Het |
Cenpe |
A |
G |
3: 134,953,912 (GRCm39) |
M1641V |
probably benign |
Het |
Clec2e |
G |
A |
6: 129,077,790 (GRCm39) |
T16I |
probably benign |
Het |
Clp1 |
T |
C |
2: 84,556,219 (GRCm39) |
D87G |
possibly damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,337,444 (GRCm39) |
F517I |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,758,837 (GRCm39) |
N646S |
probably damaging |
Het |
Ephx1 |
T |
A |
1: 180,823,543 (GRCm39) |
Y188F |
possibly damaging |
Het |
Etfa |
A |
T |
9: 55,403,051 (GRCm39) |
H81Q |
possibly damaging |
Het |
Gigyf2 |
T |
A |
1: 87,368,571 (GRCm39) |
F1084I |
probably damaging |
Het |
Heatr3 |
T |
C |
8: 88,868,411 (GRCm39) |
|
probably null |
Het |
Ift81 |
G |
T |
5: 122,732,656 (GRCm39) |
H293N |
probably benign |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Il6 |
T |
G |
5: 30,223,076 (GRCm39) |
L114* |
probably null |
Het |
Ism2 |
A |
T |
12: 87,346,355 (GRCm39) |
M42K |
probably benign |
Het |
Lhx5 |
A |
G |
5: 120,574,503 (GRCm39) |
E269G |
probably benign |
Het |
Marveld1 |
T |
G |
19: 42,136,434 (GRCm39) |
M116R |
possibly damaging |
Het |
Micall2 |
A |
G |
5: 139,692,641 (GRCm39) |
S911P |
probably damaging |
Het |
Mier1 |
G |
A |
4: 102,997,417 (GRCm39) |
R195H |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,286,260 (GRCm39) |
|
probably null |
Het |
Mybbp1a |
A |
G |
11: 72,336,466 (GRCm39) |
K486R |
probably damaging |
Het |
Ncapd2 |
A |
C |
6: 125,162,708 (GRCm39) |
L179R |
probably damaging |
Het |
Nos1 |
C |
T |
5: 118,081,310 (GRCm39) |
Q1171* |
probably null |
Het |
Nrg1 |
T |
A |
8: 32,408,000 (GRCm39) |
I78F |
probably damaging |
Het |
Or5d36 |
T |
G |
2: 87,901,073 (GRCm39) |
T218P |
probably benign |
Het |
Or6y1 |
T |
G |
1: 174,276,524 (GRCm39) |
F112V |
possibly damaging |
Het |
Plek2 |
C |
T |
12: 78,953,664 (GRCm39) |
|
probably null |
Het |
Plod2 |
A |
G |
9: 92,477,325 (GRCm39) |
H339R |
probably damaging |
Het |
Polr1a |
A |
G |
6: 71,927,852 (GRCm39) |
I868V |
probably benign |
Het |
Prss54 |
C |
A |
8: 96,286,003 (GRCm39) |
V357L |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,855,727 (GRCm39) |
S625T |
probably damaging |
Het |
Rgs1 |
A |
T |
1: 144,123,667 (GRCm39) |
L86Q |
probably damaging |
Het |
Ripk4 |
T |
A |
16: 97,545,262 (GRCm39) |
N462Y |
probably damaging |
Het |
Rsf1 |
C |
T |
7: 97,325,429 (GRCm39) |
L1011F |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 82,997,062 (GRCm39) |
T382I |
probably damaging |
Het |
Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
Trim45 |
C |
A |
3: 100,839,050 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
G |
T |
17: 31,202,976 (GRCm39) |
R443M |
possibly damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,597 (GRCm39) |
R87K |
probably damaging |
Het |
Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
Zeb2 |
T |
G |
2: 44,886,447 (GRCm39) |
E825A |
probably damaging |
Het |
Zfp930 |
A |
T |
8: 69,679,344 (GRCm39) |
I50F |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGCCTGATTTACCACC -3'
(R):5'- GGGCCTTCTTGGGATTCATTCC -3'
Sequencing Primer
(F):5'- TGATTTACCACCGCCCCAC -3'
(R):5'- TGGGATTCATTCCTTGCCTG -3'
|
Posted On |
2015-12-21 |