Incidental Mutation 'IGL02168:Pole2'
ID |
282806 |
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 # |
IGL02168
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 69248660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021356]
[ENSMUST00000021359]
[ENSMUST00000221411]
[ENSMUST00000222699]
|
AlphaFold |
O54956 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021356
|
SMART Domains |
Protein: ENSMUSP00000021356 Gene: ENSMUSG00000020973
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
Pfam:PIH1
|
43 |
352 |
2e-99 |
PFAM |
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
SCOP:d1keka4
|
398 |
460 |
4e-3 |
SMART |
low complexity region
|
672 |
693 |
N/A |
INTRINSIC |
low complexity region
|
734 |
743 |
N/A |
INTRINSIC |
|
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: ENSMUST00000181850
|
SMART Domains |
Protein: ENSMUSP00000137753 Gene: ENSMUSG00000097061
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221411
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221986
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223192
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
Clec4b2 |
T |
A |
6: 123,181,156 (GRCm39) |
N180K |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
A |
G |
6: 71,577,101 (GRCm39) |
V738A |
probably damaging |
Het |
Klf10 |
A |
T |
15: 38,297,085 (GRCm39) |
F318L |
probably damaging |
Het |
Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
Scart1 |
A |
T |
7: 139,803,399 (GRCm39) |
H321L |
probably benign |
Het |
Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
Ubtf |
T |
C |
11: 102,204,994 (GRCm39) |
K97E |
probably damaging |
Het |
Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
Zfp458 |
A |
T |
13: 67,406,098 (GRCm39) |
C111S |
probably damaging |
Het |
|
Other mutations in Pole2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00930:Pole2
|
APN |
12 |
69,273,219 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2015-04-16 |