Incidental Mutation 'IGL01609:Pole2'
| ID |
91921 |
| 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 # |
IGL01609
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69248547-69274969 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 69254631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021359]
[ENSMUST00000221411]
[ENSMUST00000222699]
|
| 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 |
probably null
Transcript: ENSMUST00000221411
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222699
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,955,092 (GRCm39) |
V299A |
probably benign |
Het |
| Actr5 |
T |
C |
2: 158,478,722 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,756,744 (GRCm39) |
D448G |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,291 (GRCm39) |
E801G |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,552,978 (GRCm39) |
N232S |
probably damaging |
Het |
| Brf1 |
A |
C |
12: 112,927,211 (GRCm39) |
Y459D |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,659,541 (GRCm39) |
I772F |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,008,088 (GRCm39) |
|
probably null |
Het |
| Dync1i2 |
T |
A |
2: 71,077,352 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,333 (GRCm39) |
M542K |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,575,736 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
A |
G |
6: 70,495,232 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,714 (GRCm39) |
V48A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,220,417 (GRCm39) |
S483G |
probably benign |
Het |
| Lbp |
A |
C |
2: 158,170,332 (GRCm39) |
Q464P |
probably damaging |
Het |
| Lipo4 |
T |
C |
19: 33,476,654 (GRCm39) |
T365A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,593,956 (GRCm39) |
F274S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,884,904 (GRCm39) |
|
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,001 (GRCm39) |
F137I |
probably damaging |
Het |
| Msh4 |
G |
T |
3: 153,603,034 (GRCm39) |
A93E |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,968,567 (GRCm39) |
D407E |
probably benign |
Het |
| Or10j7 |
G |
A |
1: 173,011,843 (GRCm39) |
H53Y |
probably benign |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or1i2 |
A |
C |
10: 78,447,960 (GRCm39) |
S172A |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,643,078 (GRCm39) |
V452L |
possibly damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,685,021 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,254,348 (GRCm39) |
E461G |
probably benign |
Het |
| Postn |
T |
C |
3: 54,276,649 (GRCm39) |
M176T |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,276,483 (GRCm39) |
C371S |
probably damaging |
Het |
| Rnf11 |
T |
A |
4: 109,314,173 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Rrad |
A |
G |
8: 105,356,456 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,957,570 (GRCm39) |
I401F |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,544,749 (GRCm39) |
|
probably benign |
Het |
| Tmem45a |
A |
G |
16: 56,631,928 (GRCm39) |
I230T |
probably benign |
Het |
| Tnni1 |
C |
A |
1: 135,733,234 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
A |
T |
1: 14,982,607 (GRCm39) |
I83N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,221,555 (GRCm39) |
Y54C |
probably damaging |
Het |
| Umodl1 |
C |
T |
17: 31,217,800 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Unc93a2 |
A |
G |
17: 7,637,138 (GRCm39) |
V130A |
probably damaging |
Het |
| Usp37 |
G |
A |
1: 74,514,199 (GRCm39) |
A324V |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,321,023 (GRCm39) |
C751S |
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 |
|
|
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 |
Incidental Mutation