Incidental Mutation 'IGL00486:Poli'
| ID |
3299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Poli
|
| Ensembl Gene |
ENSMUSG00000038425 |
| Gene Name |
polymerase (DNA directed), iota |
| Synonyms |
Rad30b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70658561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 81
(G81R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043286]
[ENSMUST00000121674]
[ENSMUST00000159389]
[ENSMUST00000160713]
[ENSMUST00000161542]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043286
AA Change: G81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: G81R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
168 |
5.4e-39 |
PFAM |
|
Pfam:IMS_HHH
|
180 |
212 |
1.2e-9 |
PFAM |
|
Pfam:IMS_C
|
247 |
379 |
1.7e-12 |
PFAM |
|
PDB:2KWV|A
|
444 |
489 |
8e-23 |
PDB |
|
low complexity region
|
532 |
546 |
N/A |
INTRINSIC |
|
PDB:3AI4|A
|
623 |
674 |
4e-26 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121674
AA Change: G144R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: G144R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
Pfam:IMS
|
53 |
231 |
1e-47 |
PFAM |
|
Pfam:IMS_HHH
|
243 |
275 |
1.5e-9 |
PFAM |
|
Pfam:IMS_C
|
312 |
441 |
2.5e-14 |
PFAM |
|
PDB:2KWV|A
|
507 |
552 |
8e-23 |
PDB |
|
low complexity region
|
595 |
609 |
N/A |
INTRINSIC |
|
PDB:3AI4|A
|
686 |
737 |
5e-26 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159389
|
| SMART Domains |
Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
145 |
1.8e-29 |
PFAM |
|
Pfam:IMS_HHH
|
157 |
189 |
1.7e-9 |
PFAM |
|
Pfam:IMS_C
|
224 |
356 |
2.4e-12 |
PFAM |
|
PDB:2KWV|A
|
421 |
466 |
7e-23 |
PDB |
|
low complexity region
|
509 |
523 |
N/A |
INTRINSIC |
|
PDB:3AI4|A
|
600 |
651 |
3e-26 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160713
AA Change: G81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
AA Change: G81R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
127 |
5.9e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161542
AA Change: G81R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: G81R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
168 |
5.4e-39 |
PFAM |
|
Pfam:IMS_HHH
|
180 |
212 |
1.2e-9 |
PFAM |
|
Pfam:IMS_C
|
247 |
379 |
1.7e-12 |
PFAM |
|
PDB:2KWV|A
|
444 |
489 |
8e-23 |
PDB |
|
low complexity region
|
532 |
546 |
N/A |
INTRINSIC |
|
PDB:3AI4|A
|
623 |
674 |
4e-26 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation show normal somatic hypermutation of immunoglobulin variable genes and no significant increase in UV-induced epithelial skin tumor formation relative to controls; in contrast, formation of mesenchymal tumors by chronic UV irradiation is enhanced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Poli |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Poli
|
APN |
18 |
70,642,802 (GRCm39) |
missense |
probably benign |
|
|
IGL01958:Poli
|
APN |
18 |
70,659,657 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02375:Poli
|
APN |
18 |
70,656,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Poli
|
APN |
18 |
70,659,645 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02480:Poli
|
APN |
18 |
70,658,477 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0113:Poli
|
UTSW |
18 |
70,661,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Poli
|
UTSW |
18 |
70,655,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Poli
|
UTSW |
18 |
70,656,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0710:Poli
|
UTSW |
18 |
70,655,961 (GRCm39) |
splice site |
probably null |
|
|
R1004:Poli
|
UTSW |
18 |
70,658,509 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1264:Poli
|
UTSW |
18 |
70,650,574 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1660:Poli
|
UTSW |
18 |
70,642,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1992:Poli
|
UTSW |
18 |
70,642,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2915:Poli
|
UTSW |
18 |
70,655,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4531:Poli
|
UTSW |
18 |
70,650,548 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4816:Poli
|
UTSW |
18 |
70,655,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5393:Poli
|
UTSW |
18 |
70,650,499 (GRCm39) |
nonsense |
probably null |
|
|
R5404:Poli
|
UTSW |
18 |
70,642,503 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5559:Poli
|
UTSW |
18 |
70,642,356 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5957:Poli
|
UTSW |
18 |
70,650,511 (GRCm39) |
missense |
probably benign |
|
|
R6045:Poli
|
UTSW |
18 |
70,650,540 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6385:Poli
|
UTSW |
18 |
70,663,072 (GRCm39) |
start gained |
probably benign |
|
|
R6807:Poli
|
UTSW |
18 |
70,663,222 (GRCm39) |
splice site |
probably null |
|
|
R7024:Poli
|
UTSW |
18 |
70,649,920 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7067:Poli
|
UTSW |
18 |
70,642,488 (GRCm39) |
nonsense |
probably null |
|
|
R7452:Poli
|
UTSW |
18 |
70,642,049 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7653:Poli
|
UTSW |
18 |
70,642,698 (GRCm39) |
missense |
probably benign |
|
|
R7685:Poli
|
UTSW |
18 |
70,658,590 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7857:Poli
|
UTSW |
18 |
70,642,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7872:Poli
|
UTSW |
18 |
70,655,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Poli
|
UTSW |
18 |
70,642,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation