Incidental Mutation 'IGL01958:Poli'
| ID |
181451 |
| 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 # |
IGL01958
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70659657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 58
(R58H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123964
(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: R58H
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: R58H
| 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: R121H
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: R121H
| 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 |
possibly damaging
Transcript: ENSMUST00000159389
AA Change: R58H
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: R58H
| 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
AA Change: R58H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
AA Change: R58H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
127 |
5.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161542
AA Change: R58H
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: R58H
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
T |
C |
10: 95,629,659 (GRCm39) |
I29T |
probably damaging |
Het |
| Agps |
G |
A |
2: 75,740,045 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,393,794 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
C |
19: 8,992,273 (GRCm39) |
V4519A |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,852,853 (GRCm39) |
D159G |
probably damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,806,125 (GRCm39) |
I94V |
probably damaging |
Het |
| Asph |
T |
C |
4: 9,474,904 (GRCm39) |
E674G |
possibly damaging |
Het |
| Atat1 |
T |
A |
17: 36,219,735 (GRCm39) |
|
probably benign |
Het |
| Ccar1 |
G |
A |
10: 62,626,714 (GRCm39) |
A20V |
possibly damaging |
Het |
| Cdc26 |
T |
C |
4: 62,321,001 (GRCm39) |
D14G |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,586,089 (GRCm39) |
F156S |
probably damaging |
Het |
| Dctn1 |
A |
G |
6: 83,168,326 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dnah8 |
T |
G |
17: 31,074,869 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,151,648 (GRCm39) |
|
probably benign |
Het |
| Dtl |
C |
A |
1: 191,300,489 (GRCm39) |
W125L |
probably damaging |
Het |
| Fam3c |
G |
A |
6: 22,318,954 (GRCm39) |
T149I |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,974,170 (GRCm39) |
T1304A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm6578 |
A |
G |
6: 12,099,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai1 |
A |
G |
5: 18,478,568 (GRCm39) |
F199S |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,480 (GRCm39) |
V480D |
probably damaging |
Het |
| Hdc |
A |
G |
2: 126,436,452 (GRCm39) |
L473P |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,479,622 (GRCm39) |
N4614S |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,634,791 (GRCm39) |
D344G |
probably benign |
Het |
| Ints1 |
C |
T |
5: 139,745,843 (GRCm39) |
R1342Q |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,562 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,236,285 (GRCm39) |
L339P |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,326 (GRCm39) |
I152V |
probably benign |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,459 (GRCm39) |
G74* |
probably null |
Het |
| Lrrc59 |
C |
A |
11: 94,529,354 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,710,873 (GRCm39) |
Q52R |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,646,495 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,463,053 (GRCm39) |
|
probably benign |
Het |
| Myrf |
A |
G |
19: 10,187,742 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
T |
C |
9: 105,177,502 (GRCm39) |
T250A |
probably benign |
Het |
| Nek5 |
A |
T |
8: 22,586,842 (GRCm39) |
V323E |
probably benign |
Het |
| Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
| Nup210l |
T |
A |
3: 90,111,231 (GRCm39) |
L1711Q |
possibly damaging |
Het |
| Parp8 |
T |
G |
13: 117,013,108 (GRCm39) |
K644Q |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,269,513 (GRCm39) |
Q252K |
probably damaging |
Het |
| Pianp |
A |
G |
6: 124,977,646 (GRCm39) |
T181A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,298 (GRCm39) |
V2839A |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,890,353 (GRCm39) |
D447G |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,694,386 (GRCm39) |
I637V |
probably benign |
Het |
| Rasip1 |
A |
T |
7: 45,286,188 (GRCm39) |
R804* |
probably null |
Het |
| Relt |
A |
G |
7: 100,500,350 (GRCm39) |
V113A |
probably benign |
Het |
| Rnf215 |
G |
T |
11: 4,090,317 (GRCm39) |
C345F |
probably damaging |
Het |
| Scart2 |
T |
C |
7: 139,854,040 (GRCm39) |
C348R |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,173 (GRCm39) |
D595G |
probably damaging |
Het |
| Serpina3k |
G |
A |
12: 104,307,316 (GRCm39) |
V183M |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,256,452 (GRCm39) |
|
probably benign |
Het |
| Sparcl1 |
A |
T |
5: 104,240,406 (GRCm39) |
D339E |
probably benign |
Het |
| Tg |
T |
C |
15: 66,631,335 (GRCm39) |
F535L |
probably benign |
Het |
| Zbtb45 |
C |
A |
7: 12,740,203 (GRCm39) |
A471S |
probably benign |
Het |
| Zfp106 |
T |
A |
2: 120,365,288 (GRCm39) |
K373M |
probably benign |
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 |
|
IGL01506:Poli
|
APN |
18 |
70,642,802 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation