Incidental Mutation 'IGL03104:Pold1'
| ID |
418870 |
| 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 # |
IGL03104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44182168-44198239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44190004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 394
(Y394C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049343]
[ENSMUST00000145956]
[ENSMUST00000151793]
|
| AlphaFold |
P52431 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049343
AA Change: Y394C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: Y394C
| 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 damaging
Transcript: ENSMUST00000151793
AA Change: Y394C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: Y394C
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
C |
A |
1: 58,321,918 (GRCm39) |
T70K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,615 (GRCm39) |
Y91N |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,120,934 (GRCm39) |
L46S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,941,743 (GRCm39) |
S1488P |
probably damaging |
Het |
| Coro7 |
T |
A |
16: 4,446,990 (GRCm39) |
E793V |
probably damaging |
Het |
| Ctnnbl1 |
G |
T |
2: 157,732,885 (GRCm39) |
R555L |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,743,666 (GRCm39) |
C268R |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,847,260 (GRCm39) |
M1684K |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,178,384 (GRCm39) |
C2092* |
probably null |
Het |
| Dtx1 |
T |
A |
5: 120,833,030 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Egln3 |
C |
T |
12: 54,249,981 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,827,504 (GRCm39) |
Y575* |
probably null |
Het |
| Entpd5 |
A |
T |
12: 84,431,022 (GRCm39) |
V310E |
probably damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,634,946 (GRCm39) |
F188L |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,675,431 (GRCm39) |
S120P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,903,108 (GRCm39) |
I479T |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,205,725 (GRCm39) |
M106L |
probably benign |
Het |
| Gm17455 |
T |
A |
10: 60,239,060 (GRCm39) |
C108* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,983,867 (GRCm39) |
|
probably benign |
Het |
| Hsp90ab1 |
G |
A |
17: 45,882,449 (GRCm39) |
R82C |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,226,905 (GRCm39) |
Y2256C |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,703,384 (GRCm39) |
I160F |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,450 (GRCm39) |
C67R |
unknown |
Het |
| Lhx4 |
A |
T |
1: 155,580,967 (GRCm39) |
V186E |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,631,958 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,801 (GRCm39) |
S1202L |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,704,623 (GRCm39) |
R763W |
probably damaging |
Het |
| Mto1 |
T |
C |
9: 78,356,802 (GRCm39) |
S106P |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,876,233 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
| Or8s10 |
A |
G |
15: 98,336,127 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,151,532 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,388,904 (GRCm39) |
S377T |
probably benign |
Het |
| Sirpd |
G |
T |
3: 15,397,283 (GRCm39) |
|
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,946 (GRCm39) |
S403P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,297,231 (GRCm39) |
T480A |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,332,883 (GRCm39) |
V315I |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,911,115 (GRCm39) |
E282G |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,685 (GRCm39) |
V855A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,962,717 (GRCm39) |
D350G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,200,944 (GRCm39) |
K127* |
probably null |
Het |
| Vmn1r72 |
T |
G |
7: 11,403,812 (GRCm39) |
H212P |
probably damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,501 (GRCm39) |
Q705L |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,925,831 (GRCm39) |
R93C |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,882,491 (GRCm39) |
E219D |
probably benign |
Het |
| Zan |
G |
A |
5: 137,461,762 (GRCm39) |
T1139I |
unknown |
Het |
| Zc3hav1 |
T |
A |
6: 38,317,278 (GRCm39) |
K107N |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,187,784 (GRCm39) |
E1150G |
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 |
|
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 |
|
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