Incidental Mutation 'IGL03118:Pold1'
| ID |
409876 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pold1
|
| Ensembl Gene |
ENSMUSG00000038644 |
| Gene Name |
polymerase (DNA directed), delta 1, catalytic subunit |
| Synonyms |
125kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL03118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44188824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 447
(I447F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049343
AA Change: I447F
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: I447F
| 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: ENSMUST00000136225
|
| 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
AA Change: I447F
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: I447F
| 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
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,619,424 (GRCm39) |
G921S |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,838,007 (GRCm39) |
T1082A |
possibly damaging |
Het |
| B9d2 |
T |
C |
7: 25,380,901 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,669,253 (GRCm39) |
E442G |
possibly damaging |
Het |
| Bpifb5 |
C |
T |
2: 154,078,673 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
A |
G |
11: 82,068,896 (GRCm39) |
I47T |
probably damaging |
Het |
| Cln3 |
T |
C |
7: 126,174,569 (GRCm39) |
I285V |
probably null |
Het |
| Cyp4a12b |
G |
T |
4: 115,290,173 (GRCm39) |
R242I |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,553,344 (GRCm39) |
T771A |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,081,878 (GRCm39) |
D1052G |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,630 (GRCm39) |
N301S |
probably benign |
Het |
| Gm28043 |
A |
C |
17: 29,853,705 (GRCm39) |
E403A |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,793,804 (GRCm39) |
|
probably benign |
Het |
| Ighv5-12 |
T |
A |
12: 113,666,198 (GRCm39) |
M1L |
probably benign |
Het |
| Il17rd |
A |
G |
14: 26,815,352 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
A |
3: 89,574,468 (GRCm39) |
L660Q |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,546,808 (GRCm39) |
P131S |
probably damaging |
Het |
| Leng1 |
T |
C |
7: 3,668,409 (GRCm39) |
N13S |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,996,709 (GRCm39) |
Y208C |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,848 (GRCm39) |
V453A |
probably damaging |
Het |
| Odam |
T |
C |
5: 88,033,613 (GRCm39) |
S15P |
unknown |
Het |
| Or11l3 |
A |
T |
11: 58,516,269 (GRCm39) |
V201D |
probably damaging |
Het |
| Or8d1 |
A |
T |
9: 38,766,526 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,618 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,372,341 (GRCm39) |
Y244* |
probably null |
Het |
| Pik3ca |
A |
T |
3: 32,514,084 (GRCm39) |
I857F |
probably damaging |
Het |
| Ppm1f |
T |
A |
16: 16,731,942 (GRCm39) |
W131R |
probably null |
Het |
| Ppp2r2c |
A |
G |
5: 37,083,660 (GRCm39) |
Y67C |
probably damaging |
Het |
| Psmb10 |
A |
T |
8: 106,663,532 (GRCm39) |
H155Q |
probably damaging |
Het |
| Ptbp3 |
G |
A |
4: 59,501,470 (GRCm39) |
A149V |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,662,731 (GRCm39) |
V566E |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,788,999 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,715,211 (GRCm39) |
R4638W |
unknown |
Het |
| Semp2l2a |
C |
T |
8: 13,888,096 (GRCm39) |
|
probably benign |
Het |
| Septin3 |
G |
A |
15: 82,168,715 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,313 (GRCm39) |
D198V |
probably benign |
Het |
| Slc27a6 |
C |
A |
18: 58,689,815 (GRCm39) |
H94N |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,915,559 (GRCm39) |
V456M |
probably damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,977,301 (GRCm39) |
E238G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,584,551 (GRCm39) |
V20440I |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,912,000 (GRCm39) |
|
probably benign |
Het |
| Zfp865 |
T |
C |
7: 5,037,644 (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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation