Incidental Mutation 'IGL01593:Pole2'
ID |
91662 |
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 # |
IGL01593
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 69269873 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 null
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 null
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,284,279 (GRCm39) |
I310N |
probably damaging |
Het |
Abtb3 |
T |
A |
10: 85,490,339 (GRCm39) |
|
probably benign |
Het |
Ackr4 |
C |
T |
9: 103,963,130 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,782,590 (GRCm39) |
D346E |
probably benign |
Het |
Asap2 |
G |
T |
12: 21,263,203 (GRCm39) |
A273S |
probably null |
Het |
Atp6v0d2 |
C |
A |
4: 19,881,436 (GRCm39) |
R219L |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,727 (GRCm39) |
F224I |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,194,478 (GRCm39) |
|
probably null |
Het |
Cd33 |
A |
G |
7: 43,179,705 (GRCm39) |
L241P |
possibly damaging |
Het |
Clec4g |
A |
T |
8: 3,769,474 (GRCm39) |
|
probably null |
Het |
Dym |
C |
T |
18: 75,247,852 (GRCm39) |
|
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,391,612 (GRCm39) |
T14A |
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,421,121 (GRCm39) |
|
probably null |
Het |
Gm17541 |
T |
A |
12: 4,739,868 (GRCm39) |
|
probably benign |
Het |
Gpr39 |
A |
T |
1: 125,605,188 (GRCm39) |
I39F |
probably benign |
Het |
Kcnb1 |
G |
T |
2: 166,948,127 (GRCm39) |
F240L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,788,766 (GRCm39) |
V400E |
probably damaging |
Het |
Klhdc7a |
A |
G |
4: 139,694,125 (GRCm39) |
I274T |
probably damaging |
Het |
Lrwd1 |
A |
T |
5: 136,163,483 (GRCm39) |
L71Q |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,528,723 (GRCm39) |
|
probably null |
Het |
Nckap1 |
A |
T |
2: 80,350,914 (GRCm39) |
M725K |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,127,345 (GRCm39) |
K956R |
probably benign |
Het |
Or2b7 |
T |
A |
13: 21,739,389 (GRCm39) |
I268F |
probably damaging |
Het |
Prss32 |
A |
G |
17: 24,074,982 (GRCm39) |
T111A |
probably benign |
Het |
Rgs9 |
A |
G |
11: 109,139,875 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,654 (GRCm39) |
C361R |
probably damaging |
Het |
Ston1 |
G |
A |
17: 88,944,438 (GRCm39) |
G615R |
probably null |
Het |
Tas2r139 |
T |
G |
6: 42,117,891 (GRCm39) |
W8G |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,704 (GRCm39) |
L55Q |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,646,666 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
G |
7: 33,845,689 (GRCm39) |
V478A |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,739,545 (GRCm39) |
D52G |
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 |
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 |
2013-12-09 |