Incidental Mutation 'R1376:Pold1'
| ID |
186257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44189986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 400
(D400G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049343
AA Change: D400G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: D400G
| 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 |
noncoding transcript
Transcript: ENSMUST00000141742
|
| 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: D400G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: D400G
| 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: ENSMUST00000184044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208368
|
| Meta Mutation Damage Score |
0.9637 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 89.2%
|
| Validation Efficiency |
100% (29/29) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,164 (GRCm39) |
|
probably benign |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Gm11787 |
A |
G |
4: 3,516,373 (GRCm39) |
|
noncoding transcript |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lect2 |
T |
A |
13: 56,690,577 (GRCm39) |
I133F |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sec24a |
A |
C |
11: 51,591,740 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAATTTCCGGCTCCAGCTAAAGTG -3'
(R):5'- TGCCAAAGTGCAGAGCTATGAGCG -3'
Sequencing Primer
(F):5'- TGAGGTAACGCACACCTG -3'
(R):5'- AGTGACCCTTCTCTAGGACGAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation