Incidental Mutation 'IGL01506:Poli'
| ID |
89070 |
| 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 # |
IGL01506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70642802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 403
(T403I)
|
| 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 benign
Transcript: ENSMUST00000043286
AA Change: T403I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: T403I
| 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 benign
Transcript: ENSMUST00000121674
AA Change: T466I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: T466I
| 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
AA Change: T380I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: T380I
| 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 benign
Transcript: ENSMUST00000160713
|
| SMART Domains |
Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
127 |
5.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161542
AA Change: T403I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: T403I
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,447 (GRCm39) |
V2398A |
probably benign |
Het |
| Abhd2 |
T |
A |
7: 78,975,200 (GRCm39) |
I130N |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,430 (GRCm39) |
I35N |
probably benign |
Het |
| Car8 |
T |
A |
4: 8,169,761 (GRCm39) |
E249V |
probably damaging |
Het |
| Dpp8 |
A |
G |
9: 64,970,699 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,559 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,251 (GRCm39) |
V59A |
probably benign |
Het |
| Krt76 |
T |
C |
15: 101,800,835 (GRCm39) |
I154V |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Larp1b |
C |
A |
3: 40,987,875 (GRCm39) |
Y32* |
probably null |
Het |
| Magea4 |
G |
A |
X: 71,266,376 (GRCm39) |
D252N |
probably damaging |
Het |
| Mat1a |
C |
A |
14: 40,831,395 (GRCm39) |
A41E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,137,202 (GRCm39) |
V3190E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,674,082 (GRCm39) |
P249L |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,171 (GRCm39) |
I69V |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,943,126 (GRCm39) |
L126P |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,470 (GRCm39) |
L382Q |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,249,246 (GRCm39) |
Y9H |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,624 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
T |
16: 91,454,174 (GRCm39) |
I974L |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,881,309 (GRCm39) |
S618P |
probably benign |
Het |
| Syndig1 |
C |
T |
2: 149,741,677 (GRCm39) |
R88C |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,893,329 (GRCm39) |
F944L |
probably damaging |
Het |
|
| Other mutations in Poli |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Poli
|
APN |
18 |
70,658,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-03 |
Incidental Mutation