Incidental Mutation 'R3016:Pole2'
| ID |
265715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pole2
|
| Ensembl Gene |
ENSMUSG00000020974 |
| Gene Name |
polymerase (DNA directed), epsilon 2 (p59 subunit) |
| Synonyms |
DNA polymerase epsilon small subunit |
| MMRRC Submission |
040537-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3016 (G1)
|
| Quality Score |
193 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69268836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 111
(M111T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021359]
[ENSMUST00000221411]
|
| AlphaFold |
O54956 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021359
AA Change: M111T
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: M111T
| 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 benign
Transcript: ENSMUST00000221411
AA Change: M111T
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,790,048 (GRCm39) |
D74G |
probably benign |
Het |
| Alkbh8 |
G |
T |
9: 3,369,658 (GRCm39) |
S309I |
probably benign |
Het |
| Asgr2 |
A |
T |
11: 69,996,235 (GRCm39) |
I226F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,833,208 (GRCm39) |
E1690G |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,687 (GRCm39) |
V71A |
probably benign |
Het |
| Foxo3 |
G |
T |
10: 42,073,352 (GRCm39) |
D388E |
probably benign |
Het |
| Gna14 |
A |
T |
19: 16,580,746 (GRCm39) |
I195F |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,869,839 (GRCm39) |
D1463G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,009,466 (GRCm39) |
*228R |
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,885,429 (GRCm39) |
V317A |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or2aj4 |
A |
G |
16: 19,385,141 (GRCm39) |
L164P |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,979 (GRCm39) |
V39E |
probably benign |
Het |
| Padi3 |
G |
T |
4: 140,513,898 (GRCm39) |
F593L |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,232,766 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
G |
A |
18: 63,175,903 (GRCm39) |
T1826I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,766 (GRCm39) |
A2418T |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,193,200 (GRCm39) |
S1901P |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,597,405 (GRCm39) |
R588Q |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,069 (GRCm39) |
F59L |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,531,757 (GRCm39) |
D431G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGACAGGGTCCTACTCC -3'
(R):5'- TTGGAGCTTTTGATATTCCACG -3'
Sequencing Primer
(F):5'- CTGCCTCTGTGATCTCAGGTATTG -3'
(R):5'- TGTAGCTACCATATGAGTCCCGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation