Incidental Mutation 'IGL00930:Pole2'
| ID |
28739 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pole2
|
| Ensembl Gene |
ENSMUSG00000020974 |
| Gene Name |
polymerase (DNA directed), epsilon 2 (p59 subunit) |
| Synonyms |
DNA polymerase epsilon small subunit |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 69273219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021359]
[ENSMUST00000221411]
|
| AlphaFold |
O54956 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021359
|
| SMART Domains |
Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpoe2NT
|
2 |
74 |
1.9e-32 |
PFAM |
|
Pfam:DNA_pol_E_B
|
287 |
489 |
1.4e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221411
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
| Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,479,479 (GRCm39) |
E323G |
possibly damaging |
Het |
| Epc1 |
T |
A |
18: 6,449,196 (GRCm39) |
M434L |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,100 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,726 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tpst1 |
A |
T |
5: 130,130,975 (GRCm39) |
K148N |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,029 (GRCm39) |
T108A |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
| Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Pole2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Pole2
|
APN |
12 |
69,262,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Pole2
|
APN |
12 |
69,269,873 (GRCm39) |
splice site |
probably null |
|
|
IGL01609:Pole2
|
APN |
12 |
69,254,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01717:Pole2
|
APN |
12 |
69,260,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02168:Pole2
|
APN |
12 |
69,248,660 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02208:Pole2
|
APN |
12 |
69,269,936 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02966:Pole2
|
APN |
12 |
69,256,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4504001:Pole2
|
UTSW |
12 |
69,256,759 (GRCm39) |
nonsense |
probably null |
|
|
R0069:Pole2
|
UTSW |
12 |
69,256,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Pole2
|
UTSW |
12 |
69,256,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Pole2
|
UTSW |
12 |
69,269,160 (GRCm39) |
splice site |
probably benign |
|
|
R0574:Pole2
|
UTSW |
12 |
69,258,231 (GRCm39) |
splice site |
probably benign |
|
|
R0620:Pole2
|
UTSW |
12 |
69,256,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Pole2
|
UTSW |
12 |
69,258,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0791:Pole2
|
UTSW |
12 |
69,254,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1452:Pole2
|
UTSW |
12 |
69,254,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1453:Pole2
|
UTSW |
12 |
69,254,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1455:Pole2
|
UTSW |
12 |
69,254,703 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1912:Pole2
|
UTSW |
12 |
69,256,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2067:Pole2
|
UTSW |
12 |
69,274,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2929:Pole2
|
UTSW |
12 |
69,256,712 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3016:Pole2
|
UTSW |
12 |
69,268,836 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4504:Pole2
|
UTSW |
12 |
69,269,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4765:Pole2
|
UTSW |
12 |
69,268,826 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4790:Pole2
|
UTSW |
12 |
69,273,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4896:Pole2
|
UTSW |
12 |
69,269,924 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6998:Pole2
|
UTSW |
12 |
69,260,680 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7257:Pole2
|
UTSW |
12 |
69,249,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Pole2
|
UTSW |
12 |
69,269,203 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7841:Pole2
|
UTSW |
12 |
69,251,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8437:Pole2
|
UTSW |
12 |
69,250,961 (GRCm39) |
nonsense |
probably null |
|
|
R8506:Pole2
|
UTSW |
12 |
69,255,734 (GRCm39) |
missense |
probably benign |
|
|
R9467:Pole2
|
UTSW |
12 |
69,255,719 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9494:Pole2
|
UTSW |
12 |
69,249,731 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2013-04-17 |
Incidental Mutation