Incidental Mutation 'R9479:Pold1'
| ID |
716121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R9479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44191079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 251
(R251W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049343
AA Change: R251W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: R251W
| 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: 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: R251W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: R251W
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
A |
G |
1: 58,177,568 (GRCm39) |
Y261C |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,047,632 (GRCm39) |
V1165A |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bhmt2 |
G |
A |
13: 93,799,833 (GRCm39) |
A201V |
probably damaging |
Het |
| Ccdc115 |
A |
T |
1: 34,476,895 (GRCm39) |
S115T |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,617,100 (GRCm39) |
V850A |
probably benign |
Het |
| Commd8 |
A |
T |
5: 72,318,350 (GRCm39) |
H144Q |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,262 (GRCm39) |
K701E |
unknown |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,702 (GRCm39) |
C219R |
|
Het |
| Ep400 |
T |
C |
5: 110,877,730 (GRCm39) |
T835A |
unknown |
Het |
| Fam169a |
A |
G |
13: 97,246,543 (GRCm39) |
Y228C |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,250,695 (GRCm39) |
D342G |
possibly damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,968,612 (GRCm39) |
C455S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,561,625 (GRCm39) |
S190P |
probably damaging |
Het |
| Gabra5 |
A |
G |
7: 57,058,440 (GRCm39) |
I436T |
|
Het |
| Gm9767 |
G |
A |
10: 25,954,916 (GRCm39) |
G156D |
|
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gsn |
T |
C |
2: 35,186,227 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,396,204 (GRCm39) |
S17P |
probably benign |
Het |
| Hspa1l |
A |
G |
17: 35,196,735 (GRCm39) |
N258S |
probably benign |
Het |
| Isyna1 |
C |
T |
8: 71,048,193 (GRCm39) |
R200C |
probably damaging |
Het |
| Itgb2 |
A |
T |
10: 77,396,942 (GRCm39) |
K659M |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,029 (GRCm39) |
M161T |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,962,174 (GRCm39) |
K1114N |
probably damaging |
Het |
| Lonrf1 |
G |
A |
8: 36,697,668 (GRCm39) |
R439* |
probably null |
Het |
| Lrrc26 |
C |
T |
2: 25,180,571 (GRCm39) |
P191S |
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,854 (GRCm39) |
I576T |
possibly damaging |
Het |
| Or10al4 |
T |
C |
17: 38,036,986 (GRCm39) |
S24P |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,285 (GRCm39) |
C107R |
possibly damaging |
Het |
| Or14j4 |
A |
G |
17: 37,920,718 (GRCm39) |
F308S |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,013 (GRCm39) |
F94L |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,677 (GRCm39) |
R231G |
probably damaging |
Het |
| Or7g20 |
G |
A |
9: 18,946,730 (GRCm39) |
V104I |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,217,963 (GRCm39) |
V2104A |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pgap1 |
G |
A |
1: 54,582,275 (GRCm39) |
Q191* |
probably null |
Het |
| Pglyrp3 |
A |
G |
3: 91,935,310 (GRCm39) |
I187V |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,699,571 (GRCm39) |
I2122F |
possibly damaging |
Het |
| Prr22 |
A |
G |
17: 57,078,335 (GRCm39) |
M163V |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,001,388 (GRCm39) |
N814K |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rbm22 |
T |
C |
18: 60,699,492 (GRCm39) |
L147P |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,657,445 (GRCm39) |
S391F |
unknown |
Het |
| Rnf13 |
A |
T |
3: 57,727,983 (GRCm39) |
D221V |
possibly damaging |
Het |
| Senp2 |
T |
A |
16: 21,842,398 (GRCm39) |
L154Q |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,332 (GRCm39) |
Q131R |
possibly damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,562,402 (GRCm39) |
Y314* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,666,286 (GRCm39) |
P11590Q |
unknown |
Het |
| Txnrd3 |
C |
T |
6: 89,640,084 (GRCm39) |
T266M |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,194,497 (GRCm39) |
S64G |
possibly 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 |
|
|
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 |
|
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'- CACAAGGTAGGAGCGACATC -3'
(R):5'- TATGCTCCCGTGAGAGTGAGTG -3'
Sequencing Primer
(F):5'- TAGGAGCGACATCGGCAC -3'
(R):5'- TAGGTGTGTGCCAACCTCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation