Incidental Mutation 'R0184:Pold1'
| ID |
23964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
038449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R0184 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44532746-44548849 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44541715 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 231
(V231M)
|
| 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: V231M
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: V231M
| 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
AA Change: V231M
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: V231M
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.9%
|
| Validation Efficiency |
66% (50/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
A |
3: 124,419,250 (GRCm38) |
V131F |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,637,373 (GRCm38) |
D285G |
probably benign |
Het |
| Akr1c13 |
A |
G |
13: 4,194,056 (GRCm38) |
E36G |
probably damaging |
Het |
| Antxr2 |
A |
G |
5: 97,980,030 (GRCm38) |
L214S |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 38,617,673 (GRCm38) |
D46E |
unknown |
Het |
| Armc9 |
T |
C |
1: 86,198,370 (GRCm38) |
L61P |
probably damaging |
Het |
| Bicc1 |
C |
A |
10: 71,079,215 (GRCm38) |
R73L |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,435,841 (GRCm38) |
N43S |
probably benign |
Het |
| Cct7 |
A |
G |
6: 85,461,554 (GRCm38) |
D105G |
probably null |
Het |
| Cdk18 |
T |
C |
1: 132,118,538 (GRCm38) |
N215D |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,103,395 (GRCm38) |
T205A |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,599,012 (GRCm38) |
I495N |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 26,187,007 (GRCm38) |
C152* |
probably null |
Het |
| Dab2ip |
G |
A |
2: 35,718,791 (GRCm38) |
R579H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,683,683 (GRCm38) |
V905A |
probably benign |
Het |
| Eif4h |
C |
A |
5: 134,625,375 (GRCm38) |
D134Y |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,299,216 (GRCm38) |
S372T |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,296,288 (GRCm38) |
H1244L |
probably damaging |
Het |
| Fbxo11 |
T |
A |
17: 88,008,673 (GRCm38) |
N443I |
probably benign |
Het |
| Git2 |
G |
A |
5: 114,739,037 (GRCm38) |
T128M |
possibly damaging |
Het |
| Gm10985 |
T |
A |
3: 53,845,258 (GRCm38) |
Y21N |
probably damaging |
Het |
| Gm12790 |
A |
T |
4: 101,967,614 (GRCm38) |
Y152* |
probably null |
Het |
| Heatr5a |
T |
C |
12: 51,909,969 (GRCm38) |
D1115G |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,718,931 (GRCm38) |
N726S |
possibly damaging |
Het |
| Hrg |
T |
C |
16: 22,953,771 (GRCm38) |
|
probably null |
Het |
| Iars |
T |
G |
13: 49,722,212 (GRCm38) |
S792A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 68,226,193 (GRCm38) |
N1301S |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,205,606 (GRCm38) |
I75F |
probably damaging |
Het |
| Ilkap |
T |
C |
1: 91,376,305 (GRCm38) |
|
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,555,044 (GRCm38) |
Y435N |
probably benign |
Het |
| Ints8 |
A |
C |
4: 11,218,637 (GRCm38) |
S797A |
probably benign |
Het |
| Itgad |
T |
A |
7: 128,189,231 (GRCm38) |
D405E |
probably benign |
Het |
| Itgam |
A |
T |
7: 128,086,058 (GRCm38) |
I448F |
probably damaging |
Het |
| Klk1 |
C |
T |
7: 44,228,749 (GRCm38) |
T41I |
possibly damaging |
Het |
| Mcrip1 |
T |
C |
11: 120,544,884 (GRCm38) |
M1V |
probably null |
Het |
| Mdga1 |
A |
G |
17: 29,852,442 (GRCm38) |
Y128H |
probably damaging |
Het |
| Mtor |
G |
T |
4: 148,464,971 (GRCm38) |
R604L |
probably benign |
Het |
| Olfr1170 |
A |
T |
2: 88,224,780 (GRCm38) |
L84* |
probably null |
Het |
| Olfr656 |
T |
C |
7: 104,618,240 (GRCm38) |
V187A |
probably damaging |
Het |
| Pcdhb7 |
T |
A |
18: 37,343,390 (GRCm38) |
D526E |
probably benign |
Het |
| Pip4k2a |
T |
C |
2: 18,889,128 (GRCm38) |
D139G |
probably damaging |
Het |
| Pkp3 |
A |
C |
7: 141,088,367 (GRCm38) |
N536T |
probably benign |
Het |
| Pla2g4c |
T |
A |
7: 13,356,220 (GRCm38) |
S524T |
probably benign |
Het |
| Pno1 |
T |
C |
11: 17,211,127 (GRCm38) |
E69G |
probably benign |
Het |
| Poli |
A |
G |
18: 70,522,731 (GRCm38) |
S248P |
probably damaging |
Het |
| Ppox |
C |
T |
1: 171,279,552 (GRCm38) |
S138N |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,685,976 (GRCm38) |
E6G |
probably null |
Het |
| Rbmx |
C |
T |
X: 57,391,566 (GRCm38) |
|
probably null |
Het |
| Rln1 |
T |
A |
19: 29,331,936 (GRCm38) |
K148* |
probably null |
Het |
| Rnf213 |
C |
T |
11: 119,414,521 (GRCm38) |
T526I |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,799,093 (GRCm38) |
V904E |
probably null |
Het |
| Sf3b2 |
T |
A |
19: 5,283,672 (GRCm38) |
I633F |
probably damaging |
Het |
| Sfswap |
T |
A |
5: 129,507,189 (GRCm38) |
I189N |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,692,249 (GRCm38) |
Y973* |
probably null |
Het |
| Spink5 |
G |
A |
18: 44,003,198 (GRCm38) |
D559N |
probably benign |
Het |
| Spty2d1 |
C |
T |
7: 46,997,574 (GRCm38) |
V536I |
possibly damaging |
Het |
| Tbx3 |
T |
C |
5: 119,675,562 (GRCm38) |
I221T |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,852,300 (GRCm38) |
D1650V |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,430,964 (GRCm38) |
K45R |
probably benign |
Het |
| Tirap |
A |
G |
9: 35,189,194 (GRCm38) |
S65P |
probably benign |
Het |
| Trim25 |
C |
T |
11: 88,999,640 (GRCm38) |
P51L |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,014,417 (GRCm38) |
N64S |
probably benign |
Het |
| Twf1 |
T |
A |
15: 94,581,067 (GRCm38) |
|
probably null |
Het |
| Ubr4 |
A |
C |
4: 139,445,262 (GRCm38) |
T1692P |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,562,581 (GRCm38) |
M86T |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,667,618 (GRCm38) |
D1762G |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 24,003,207 (GRCm38) |
F33I |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 10,159,338 (GRCm38) |
S625G |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,726,877 (GRCm38) |
W472* |
probably null |
Het |
| Vrk2 |
C |
A |
11: 26,550,046 (GRCm38) |
A56S |
probably damaging |
Het |
| Yeats2 |
C |
T |
16: 20,203,685 (GRCm38) |
P620S |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,950,513 (GRCm38) |
D171N |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,808 (GRCm38) |
I440F |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,819,563 (GRCm38) |
I253T |
probably damaging |
Het |
|
| Other mutations in Pold1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Pold1
|
APN |
7 |
44,543,232 (GRCm38) |
splice site |
probably benign |
|
|
IGL01626:Pold1
|
APN |
7 |
44,533,372 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01635:Pold1
|
APN |
7 |
44,535,977 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02165:Pold1
|
APN |
7 |
44,538,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02197:Pold1
|
APN |
7 |
44,542,239 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02579:Pold1
|
APN |
7 |
44,543,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03104:Pold1
|
APN |
7 |
44,540,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03118:Pold1
|
APN |
7 |
44,539,400 (GRCm38) |
missense |
probably benign |
0.17 |
|
PIT4243001:Pold1
|
UTSW |
7 |
44,542,158 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
PIT4431001:Pold1
|
UTSW |
7 |
44,538,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0266:Pold1
|
UTSW |
7 |
44,541,025 (GRCm38) |
splice site |
probably benign |
|
|
R0537:Pold1
|
UTSW |
7 |
44,535,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1251:Pold1
|
UTSW |
7 |
44,535,051 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1348:Pold1
|
UTSW |
7 |
44,534,682 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1376:Pold1
|
UTSW |
7 |
44,540,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1376:Pold1
|
UTSW |
7 |
44,540,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1445:Pold1
|
UTSW |
7 |
44,542,757 (GRCm38) |
splice site |
probably benign |
|
|
R2156:Pold1
|
UTSW |
7 |
44,539,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2256:Pold1
|
UTSW |
7 |
44,533,799 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2259:Pold1
|
UTSW |
7 |
44,541,484 (GRCm38) |
splice site |
probably benign |
|
|
R2870:Pold1
|
UTSW |
7 |
44,543,347 (GRCm38) |
synonymous |
silent |
|
|
R3793:Pold1
|
UTSW |
7 |
44,541,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4493:Pold1
|
UTSW |
7 |
44,537,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4583:Pold1
|
UTSW |
7 |
44,538,913 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4661:Pold1
|
UTSW |
7 |
44,532,809 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4738:Pold1
|
UTSW |
7 |
44,541,329 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4769:Pold1
|
UTSW |
7 |
44,535,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4797:Pold1
|
UTSW |
7 |
44,541,901 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5009:Pold1
|
UTSW |
7 |
44,533,902 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5150:Pold1
|
UTSW |
7 |
44,535,832 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5534:Pold1
|
UTSW |
7 |
44,538,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5988:Pold1
|
UTSW |
7 |
44,540,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6113:Pold1
|
UTSW |
7 |
44,537,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6127:Pold1
|
UTSW |
7 |
44,542,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6232:Pold1
|
UTSW |
7 |
44,540,842 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6435:Pold1
|
UTSW |
7 |
44,538,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6436:Pold1
|
UTSW |
7 |
44,538,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6437:Pold1
|
UTSW |
7 |
44,538,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6930:Pold1
|
UTSW |
7 |
44,542,206 (GRCm38) |
missense |
probably benign |
|
|
R7049:Pold1
|
UTSW |
7 |
44,541,371 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7158:Pold1
|
UTSW |
7 |
44,538,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7170:Pold1
|
UTSW |
7 |
44,542,148 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7235:Pold1
|
UTSW |
7 |
44,541,820 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7372:Pold1
|
UTSW |
7 |
44,543,423 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R7511:Pold1
|
UTSW |
7 |
44,542,190 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7797:Pold1
|
UTSW |
7 |
44,541,789 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9037:Pold1
|
UTSW |
7 |
44,538,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9479:Pold1
|
UTSW |
7 |
44,541,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Pold1
|
UTSW |
7 |
44,542,232 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Pold1
|
UTSW |
7 |
44,541,780 (GRCm38) |
missense |
probably benign |
0.15 |
|
Z1177:Pold1
|
UTSW |
7 |
44,541,958 (GRCm38) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCATCCCACAATGTCAGCATC -3'
(R):5'- ACTGGCCTCCTACACCAGGTTTTG -3'
Sequencing Primer
(F):5'- CCACCATGAACCTGGAAGAGTG -3'
(R):5'- TGGCAATAGAGCTATGCTCC -3'
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| Posted On |
2013-04-16 |
Incidental Mutation