Incidental Mutation 'R7235:Pold1'
| ID |
562761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
045305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44191244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 196
(M196L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049343
AA Change: M196L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: M196L
| 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 benign
Transcript: ENSMUST00000151793
AA Change: M196L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: M196L
| 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 |
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (61/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,852 (GRCm39) |
M3712K |
unknown |
Het |
| Bri3bp |
A |
G |
5: 125,518,748 (GRCm39) |
E8G |
unknown |
Het |
| Brip1 |
C |
T |
11: 86,029,701 (GRCm39) |
R611Q |
possibly damaging |
Het |
| Carm1 |
T |
G |
9: 21,498,701 (GRCm39) |
|
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,939,892 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,821,422 (GRCm39) |
L176H |
probably damaging |
Het |
| Clk4 |
A |
G |
11: 51,167,012 (GRCm39) |
D330G |
probably damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,520,718 (GRCm39) |
S453P |
|
Het |
| Ddx46 |
G |
A |
13: 55,811,053 (GRCm39) |
V550I |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,691,073 (GRCm39) |
N676D |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,631,893 (GRCm39) |
N1365S |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,532,480 (GRCm39) |
V508A |
probably benign |
Het |
| Dus2 |
T |
C |
8: 106,742,587 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dync1li1 |
T |
C |
9: 114,544,231 (GRCm39) |
V301A |
possibly damaging |
Het |
| Efcc1 |
T |
G |
6: 87,730,780 (GRCm39) |
S513A |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,537,295 (GRCm39) |
V167A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,421,139 (GRCm39) |
Y404H |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,811,936 (GRCm39) |
D152E |
probably damaging |
Het |
| Ercc5 |
A |
C |
1: 44,217,363 (GRCm39) |
K902T |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,751 (GRCm39) |
E139V |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,614,719 (GRCm39) |
G38R |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,330,563 (GRCm39) |
H248P |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,468 (GRCm39) |
N184S |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,417,354 (GRCm39) |
Y2020H |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,264,198 (GRCm39) |
F384L |
probably damaging |
Het |
| Grin2a |
A |
G |
16: 9,397,129 (GRCm39) |
L986P |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,239,619 (GRCm39) |
D92V |
possibly damaging |
Het |
| Inpp5b |
A |
G |
4: 124,645,185 (GRCm39) |
K158E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,914,943 (GRCm39) |
S152T |
probably benign |
Het |
| Isl2 |
C |
T |
9: 55,451,455 (GRCm39) |
T115I |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,996,131 (GRCm39) |
T1542S |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,404,285 (GRCm39) |
D454G |
possibly damaging |
Het |
| Kcnj10 |
T |
C |
1: 172,196,993 (GRCm39) |
I169T |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,422,723 (GRCm39) |
S217P |
probably damaging |
Het |
| Lancl1 |
T |
C |
1: 67,077,694 (GRCm39) |
N14S |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,807 (GRCm39) |
Y899C |
probably damaging |
Het |
| Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
| Nr1h5 |
C |
T |
3: 102,856,358 (GRCm39) |
|
probably null |
Het |
| Nup98 |
T |
C |
7: 101,774,491 (GRCm39) |
T1515A |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,971,666 (GRCm39) |
V2183G |
probably damaging |
Het |
| Or52n2 |
C |
T |
7: 104,541,926 (GRCm39) |
R303Q |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,105,288 (GRCm39) |
T248A |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,611,679 (GRCm39) |
S533T |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,317,573 (GRCm39) |
Y680H |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,763,659 (GRCm39) |
N436S |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,532,127 (GRCm39) |
V1464I |
probably benign |
Het |
| Ptk2b |
G |
A |
14: 66,394,536 (GRCm39) |
Q857* |
probably null |
Het |
| Qars1 |
T |
A |
9: 108,387,331 (GRCm39) |
L185Q |
probably damaging |
Het |
| Rabep1 |
A |
G |
11: 70,831,290 (GRCm39) |
N859S |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,977,571 (GRCm39) |
H156R |
|
Het |
| Sart3 |
T |
C |
5: 113,891,703 (GRCm39) |
Q423R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
C |
T |
7: 44,930,182 (GRCm39) |
H194Y |
probably damaging |
Het |
| Tcf4 |
G |
A |
18: 69,790,866 (GRCm39) |
V420I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,968,321 (GRCm39) |
D701G |
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,251,761 (GRCm39) |
D46G |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,372,123 (GRCm39) |
R429* |
probably null |
Het |
| Uxs1 |
T |
C |
1: 43,804,087 (GRCm39) |
N276S |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,588,078 (GRCm39) |
I684V |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,122,556 (GRCm39) |
D307E |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,665,964 (GRCm39) |
C258S |
|
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 |
|
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'- AGCACCGGATCTCAAAGTC -3'
(R):5'- TGGACTCCAGAATTTCCTTTGC -3'
Sequencing Primer
(F):5'- CAAAGTCCACGTTGGCTTCGTAG -3'
(R):5'- ACCTGAGTGAGCTGCAGCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation