Incidental Mutation 'R6232:Pold1'
| ID |
504671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| MMRRC Submission |
044360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6232 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44190266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049343
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
| 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 benign
Transcript: ENSMUST00000151793
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
| 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 |
0.9497 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
94% (64/68) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,268,933 (GRCm39) |
V198A |
possibly damaging |
Het |
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,609,193 (GRCm39) |
M805L |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,620,712 (GRCm39) |
S630G |
probably damaging |
Het |
| Bcl3 |
T |
A |
7: 19,546,409 (GRCm39) |
N142I |
probably damaging |
Het |
| Cfap210 |
C |
T |
2: 69,602,398 (GRCm39) |
E338K |
possibly damaging |
Het |
| Chuk |
A |
T |
19: 44,085,431 (GRCm39) |
D238E |
probably benign |
Het |
| Cnga4 |
T |
G |
7: 105,056,906 (GRCm39) |
Y336* |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,427 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dst |
T |
A |
1: 34,227,253 (GRCm39) |
D1290E |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,075,235 (GRCm39) |
I583T |
probably benign |
Het |
| Eif1ad13 |
A |
T |
12: 87,762,351 (GRCm39) |
R24* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,815,516 (GRCm39) |
D249V |
probably damaging |
Het |
| Fbxo30 |
A |
T |
10: 11,165,602 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Fibin |
G |
T |
2: 110,193,041 (GRCm39) |
H34N |
probably damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,161,632 (GRCm39) |
I319V |
probably benign |
Het |
| Gfm1 |
G |
T |
3: 67,375,215 (GRCm39) |
L559F |
possibly damaging |
Het |
| Gm5134 |
T |
A |
10: 75,821,859 (GRCm39) |
L231Q |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,638 (GRCm39) |
|
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,183,657 (GRCm39) |
|
probably null |
Het |
| Hsf5 |
C |
G |
11: 87,508,120 (GRCm39) |
T8S |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,813 (GRCm39) |
Q281R |
probably damaging |
Het |
| Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,486,345 (GRCm39) |
R38Q |
possibly damaging |
Het |
| Lepr |
A |
G |
4: 101,671,588 (GRCm39) |
|
probably null |
Het |
| Map3k12 |
A |
G |
15: 102,412,081 (GRCm39) |
S328P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,958,356 (GRCm39) |
V46A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,568,294 (GRCm39) |
N1408K |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,226,753 (GRCm39) |
Q366L |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,467,802 (GRCm39) |
V462A |
probably damaging |
Het |
| Nradd |
G |
T |
9: 110,450,655 (GRCm39) |
T174N |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,138,963 (GRCm39) |
S12P |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,943,337 (GRCm39) |
E4832* |
probably null |
Het |
| Opn3 |
G |
A |
1: 175,490,669 (GRCm39) |
R331W |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,761 (GRCm39) |
C127S |
probably damaging |
Het |
| Or2w3 |
T |
A |
11: 58,556,757 (GRCm39) |
V124E |
possibly damaging |
Het |
| Or4a66 |
G |
T |
2: 88,531,161 (GRCm39) |
H171N |
probably benign |
Het |
| Or52ae9 |
T |
A |
7: 103,389,661 (GRCm39) |
H262L |
probably damaging |
Het |
| Or5b120 |
G |
A |
19: 13,480,427 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,408,305 (GRCm39) |
I13V |
probably benign |
Het |
| Phip |
A |
G |
9: 82,785,234 (GRCm39) |
V827A |
probably benign |
Het |
| Phldb1 |
G |
A |
9: 44,607,414 (GRCm39) |
R1264W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,424,014 (GRCm39) |
I529S |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,814,599 (GRCm39) |
I241F |
probably benign |
Het |
| Pla2g4f |
G |
T |
2: 120,132,702 (GRCm39) |
D711E |
possibly damaging |
Het |
| Pold2 |
T |
C |
11: 5,823,691 (GRCm39) |
S287G |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,567 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
T |
C |
13: 27,759,557 (GRCm39) |
E160G |
possibly damaging |
Het |
| Rfc4 |
C |
T |
16: 22,932,840 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph14 |
G |
A |
10: 74,797,520 (GRCm39) |
R156W |
probably benign |
Het |
| Sec61a1 |
T |
C |
6: 88,482,150 (GRCm39) |
Y457C |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,704,861 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,244,333 (GRCm39) |
E234G |
unknown |
Het |
| Sphkap |
T |
A |
1: 83,258,200 (GRCm39) |
E181V |
probably damaging |
Het |
| Stau2 |
C |
T |
1: 16,445,035 (GRCm39) |
A298T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 56,990,796 (GRCm39) |
I661V |
probably benign |
Het |
| Thoc6 |
A |
C |
17: 23,889,295 (GRCm39) |
|
probably null |
Het |
| Trpv1 |
T |
A |
11: 73,141,636 (GRCm39) |
M553K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,641,579 (GRCm39) |
I11760V |
probably benign |
Het |
| Vmn1r61 |
G |
A |
7: 5,613,850 (GRCm39) |
H155Y |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,153,214 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
A |
G |
7: 85,607,498 (GRCm39) |
I75T |
possibly damaging |
Het |
| Wwp2 |
C |
A |
8: 108,232,977 (GRCm39) |
T205K |
probably benign |
Het |
| Zfp1003 |
A |
T |
2: 177,546,195 (GRCm39) |
T40S |
probably benign |
Het |
| Zfp747 |
C |
T |
7: 126,973,306 (GRCm39) |
G288D |
probably damaging |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
| Zfp953 |
G |
A |
13: 67,491,161 (GRCm39) |
L264F |
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 |
|
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'- GGTCCATGGCAAGGATGAAGTC -3'
(R):5'- ATGAGGTCCCTGTGTCTTCC -3'
Sequencing Primer
(F):5'- AACCAGGCTGTCTTTACCTCAG -3'
(R):5'- GTGTCTTCCCCTCTGCAGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation