Incidental Mutation 'IGL02480:Poli'
ID |
295156 |
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 # |
IGL02480
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70658477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 86
(T86A)
|
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: T109A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000039869 Gene: ENSMUSG00000038425 AA Change: T109A
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: T172A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112563 Gene: ENSMUSG00000038425 AA Change: T172A
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: T86A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000123964 Gene: ENSMUSG00000038425 AA Change: T86A
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: T109A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125467 Gene: ENSMUSG00000038425 AA Change: T109A
Domain | Start | End | E-Value | Type |
Pfam:IMS
|
1 |
127 |
5.9e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161542
AA Change: T109A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124877 Gene: ENSMUSG00000038425 AA Change: T109A
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
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 |
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 |
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 |
2015-04-16 |