Incidental Mutation 'R5559:Poli'
ID |
436483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poli
|
Ensembl Gene |
ENSMUSG00000038425 |
Gene Name |
polymerase (DNA directed), iota |
Synonyms |
Rad30b |
MMRRC Submission |
043116-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5559 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70642356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 529
(S529P)
|
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: S552P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000039869 Gene: ENSMUSG00000038425 AA Change: S552P
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: S615P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000112563 Gene: ENSMUSG00000038425 AA Change: S615P
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: S529P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000123964 Gene: ENSMUSG00000038425 AA Change: S529P
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: S552P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124877 Gene: ENSMUSG00000038425 AA Change: S552P
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTTCTAGTCCCTGGTGAGAG -3'
(R):5'- TTAAGTTGTCCGCTGCATGCC -3'
Sequencing Primer
(F):5'- AGGCGGTGGCTGTCTGC -3'
(R):5'- TCCGCTGCATGCCTCTAGAG -3'
|
Posted On |
2016-10-24 |