Incidental Mutation 'IGL02375:Poli'
ID |
291059 |
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 # |
IGL02375
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70656363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 155
(G155R)
|
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: G155R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039869 Gene: ENSMUSG00000038425 AA Change: G155R
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: G218R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112563 Gene: ENSMUSG00000038425 AA Change: G218R
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 damaging
Transcript: ENSMUST00000159389
AA Change: G132R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123964 Gene: ENSMUSG00000038425 AA Change: G132R
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 damaging
Transcript: ENSMUST00000161542
AA Change: G155R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124877 Gene: ENSMUSG00000038425 AA Change: G155R
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
T |
A |
6: 146,854,813 (GRCm39) |
K76N |
possibly damaging |
Het |
Agxt |
A |
G |
1: 93,063,425 (GRCm39) |
E109G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,109,299 (GRCm39) |
T325A |
probably benign |
Het |
Apol7c |
T |
C |
15: 77,413,049 (GRCm39) |
E67G |
probably damaging |
Het |
Bco1 |
C |
A |
8: 117,840,178 (GRCm39) |
S232Y |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,652,884 (GRCm39) |
V763D |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,215,628 (GRCm39) |
D618G |
probably damaging |
Het |
Cimip1 |
A |
G |
2: 173,364,496 (GRCm39) |
M14V |
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,783,312 (GRCm39) |
N1603S |
unknown |
Het |
Cyp4v3 |
A |
G |
8: 45,761,411 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,810,346 (GRCm39) |
V870E |
probably damaging |
Het |
Epn2 |
A |
G |
11: 61,410,497 (GRCm39) |
V512A |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,504,185 (GRCm39) |
R321G |
probably damaging |
Het |
Garin3 |
G |
T |
11: 46,297,379 (GRCm39) |
V228L |
probably damaging |
Het |
Gprasp1 |
T |
C |
X: 134,701,552 (GRCm39) |
S582P |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,291,821 (GRCm39) |
V303A |
probably damaging |
Het |
Grik1 |
A |
T |
16: 87,743,444 (GRCm39) |
F594L |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,925 (GRCm39) |
K722E |
probably benign |
Het |
Htr5b |
G |
A |
1: 121,455,564 (GRCm39) |
R119C |
probably damaging |
Het |
Ifit2 |
T |
C |
19: 34,551,737 (GRCm39) |
S426P |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,978,698 (GRCm39) |
Y234C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,222,598 (GRCm39) |
F511I |
probably benign |
Het |
Mtfmt |
T |
C |
9: 65,346,849 (GRCm39) |
W148R |
probably damaging |
Het |
Myo1c |
C |
A |
11: 75,552,400 (GRCm39) |
T391N |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,004,339 (GRCm39) |
L710* |
probably null |
Het |
Nlrp1b |
A |
G |
11: 71,052,506 (GRCm39) |
I971T |
probably damaging |
Het |
Nup43 |
A |
G |
10: 7,549,358 (GRCm39) |
D171G |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,305 (GRCm39) |
E20G |
probably benign |
Het |
P2rx7 |
T |
C |
5: 122,811,719 (GRCm39) |
|
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,338,473 (GRCm39) |
Y512N |
probably benign |
Het |
Rad9b |
T |
C |
5: 122,471,405 (GRCm39) |
S220G |
possibly damaging |
Het |
Rgn |
C |
T |
X: 20,416,700 (GRCm39) |
S28L |
probably damaging |
Het |
Tcp11l2 |
G |
A |
10: 84,440,932 (GRCm39) |
|
probably null |
Het |
Tenm4 |
G |
A |
7: 96,353,344 (GRCm39) |
V379I |
possibly damaging |
Het |
Thsd7a |
A |
T |
6: 12,343,264 (GRCm39) |
C1118S |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,667,664 (GRCm39) |
Y776H |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,774,418 (GRCm39) |
N222S |
probably benign |
Het |
Tut1 |
C |
T |
19: 8,941,403 (GRCm39) |
R397C |
probably damaging |
Het |
Vmn1r72 |
T |
A |
7: 11,403,672 (GRCm39) |
T259S |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,423 (GRCm39) |
S2P |
possibly 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 |
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 |
2015-04-16 |