Incidental Mutation 'R1453:Pole2'
| ID |
161620 |
| 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 |
039508-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69254703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 381
(L381F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021359]
[ENSMUST00000221411]
[ENSMUST00000222699]
|
| AlphaFold |
O54956 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021359
AA Change: L381F
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: L381F
| 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: L381F
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222699
|
| Meta Mutation Damage Score |
0.0840 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,862,763 (GRCm39) |
I240M |
probably benign |
Het |
| Abcd3 |
A |
T |
3: 121,558,710 (GRCm39) |
D595E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,025,614 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
A |
G |
5: 145,062,555 (GRCm39) |
D223G |
probably damaging |
Het |
| Atp6ap1l |
T |
A |
13: 91,046,866 (GRCm39) |
T104S |
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,969 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
T |
C |
2: 118,587,903 (GRCm39) |
D477G |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,666,197 (GRCm39) |
V39A |
possibly damaging |
Het |
| Clmp |
C |
G |
9: 40,693,737 (GRCm39) |
S318W |
probably damaging |
Het |
| Cmas |
T |
C |
6: 142,717,853 (GRCm39) |
S323P |
probably damaging |
Het |
| Cnksr3 |
T |
C |
10: 7,079,132 (GRCm39) |
T80A |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,453,298 (GRCm39) |
Y484C |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,073,075 (GRCm39) |
V154A |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,990,316 (GRCm39) |
V252I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,341,876 (GRCm39) |
Y3003C |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,480 (GRCm39) |
|
probably null |
Het |
| Dppa4 |
G |
A |
16: 48,111,596 (GRCm39) |
A194T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,228,527 (GRCm39) |
V2218A |
possibly damaging |
Het |
| Dytn |
G |
C |
1: 63,673,032 (GRCm39) |
S457C |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,777,768 (GRCm39) |
Q1101* |
probably null |
Het |
| Focad |
A |
T |
4: 88,275,679 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
| Gm5093 |
A |
G |
17: 46,750,622 (GRCm39) |
F135S |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,969,759 (GRCm39) |
D71E |
possibly damaging |
Het |
| Heatr5b |
G |
A |
17: 79,124,992 (GRCm39) |
R587C |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,692,279 (GRCm39) |
|
probably null |
Het |
| Mier3 |
T |
A |
13: 111,841,778 (GRCm39) |
L111Q |
probably damaging |
Het |
| Mrgprg |
G |
A |
7: 143,318,779 (GRCm39) |
S111F |
possibly damaging |
Het |
| Mybl1 |
T |
C |
1: 9,741,901 (GRCm39) |
K677R |
probably benign |
Het |
| Nhsl1 |
T |
C |
10: 18,407,323 (GRCm39) |
S1486P |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,114 (GRCm39) |
I783T |
probably benign |
Het |
| Or10d4c |
A |
T |
9: 39,558,459 (GRCm39) |
T146S |
probably benign |
Het |
| Or5an1c |
A |
T |
19: 12,218,956 (GRCm39) |
I23K |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,769,281 (GRCm39) |
I31L |
probably benign |
Het |
| Plaat5 |
A |
G |
19: 7,616,999 (GRCm39) |
|
probably benign |
Het |
| Pramel6 |
T |
A |
2: 87,338,917 (GRCm39) |
M39K |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,530,553 (GRCm39) |
|
probably null |
Het |
| Rinl |
T |
C |
7: 28,496,329 (GRCm39) |
C437R |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 43,965,499 (GRCm39) |
S192P |
unknown |
Het |
| Slc2a10 |
A |
T |
2: 165,359,570 (GRCm39) |
Y478F |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,343,877 (GRCm39) |
L12H |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,414,393 (GRCm39) |
C970S |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,496,857 (GRCm39) |
S119P |
probably damaging |
Het |
| Stim2 |
C |
A |
5: 54,273,451 (GRCm39) |
D568E |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,221,757 (GRCm39) |
E306G |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,049,714 (GRCm39) |
S811P |
possibly damaging |
Het |
| Ubr7 |
A |
G |
12: 102,735,437 (GRCm39) |
K299E |
probably benign |
Het |
| Urb1 |
C |
A |
16: 90,593,380 (GRCm39) |
V251L |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,590 (GRCm39) |
E183D |
probably damaging |
Het |
| Zfp35 |
T |
G |
18: 24,136,557 (GRCm39) |
Y300* |
probably null |
Het |
| Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
| Zfp938 |
C |
T |
10: 82,063,632 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGAGGAAGCTGGAGATACCAC -3'
(R):5'- AACTGTAGCTAGGCATCATGGCCC -3'
Sequencing Primer
(F):5'- CAGAGTCACTGCTGGTTAAGTATC -3'
(R):5'- ctagcctagactacatagcaagac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation