Incidental Mutation 'IGL00940:Pole2'
| ID |
28751 |
| 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 # |
IGL00940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69262134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 148
(T148I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021359]
[ENSMUST00000221411]
|
| AlphaFold |
O54956 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021359
AA Change: T148I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: T148I
| 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 |
probably damaging
Transcript: ENSMUST00000221411
AA Change: T148I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221806
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
A |
G |
17: 28,276,328 (GRCm39) |
N1024D |
probably damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dock3 |
T |
A |
9: 106,788,576 (GRCm39) |
|
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,940 (GRCm39) |
F120I |
probably damaging |
Het |
| Il4ra |
G |
A |
7: 125,168,347 (GRCm39) |
|
probably null |
Het |
| Irs4 |
A |
T |
X: 140,505,140 (GRCm39) |
F1019I |
unknown |
Het |
| Klc1 |
A |
G |
12: 111,753,932 (GRCm39) |
T464A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,999,371 (GRCm39) |
T660A |
possibly damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,090,955 (GRCm39) |
V158E |
probably damaging |
Het |
| Nhs |
T |
A |
X: 160,620,226 (GRCm39) |
N1510I |
probably damaging |
Het |
| Or51e2 |
A |
G |
7: 102,391,469 (GRCm39) |
V247A |
probably damaging |
Het |
| Or8k38 |
T |
G |
2: 86,488,070 (GRCm39) |
H244P |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,126 (GRCm39) |
L267H |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,733 (GRCm39) |
E803G |
probably damaging |
Het |
| Rassf1 |
G |
T |
9: 107,435,510 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,164,872 (GRCm39) |
K210R |
probably benign |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,745,174 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,372 (GRCm39) |
R140L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,761 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,090,158 (GRCm39) |
R414* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,327,674 (GRCm39) |
S559P |
probably benign |
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 |
|
|
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