Incidental Mutation 'R0710:Poli'
| ID |
62712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poli
|
| Ensembl Gene |
ENSMUSG00000038425 |
| Gene Name |
polymerase (DNA directed), iota |
| Synonyms |
Rad30b |
| MMRRC Submission |
038893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0710 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
70508680-70530620 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 70522890 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000043286
|
| SMART Domains |
Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
| 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 null
Transcript: ENSMUST00000121674
|
| SMART Domains |
Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
| 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 null
Transcript: ENSMUST00000159389
|
| SMART Domains |
Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
| 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 null
Transcript: ENSMUST00000161542
|
| SMART Domains |
Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Celsr2 |
A |
G |
3: 108,412,712 |
V928A |
probably benign |
Het |
| Fam60a |
A |
G |
6: 148,933,000 |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,237,143 |
T256M |
probably damaging |
Het |
| Fbxl3 |
G |
T |
14: 103,089,315 |
H162Q |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,125,364 |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,481,933 |
S260P |
unknown |
Het |
| Hectd4 |
G |
A |
5: 121,336,628 |
V2771I |
probably benign |
Het |
| Hgf |
C |
A |
5: 16,566,763 |
C129* |
probably null |
Het |
| Hmg20a |
G |
A |
9: 56,474,670 |
D77N |
possibly damaging |
Het |
| Iqch |
A |
T |
9: 63,525,136 |
S287T |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 46,099,125 |
Y258C |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,726,497 |
T874A |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,977,864 |
Q50K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,464,391 |
S544P |
possibly damaging |
Het |
| Mypop |
A |
T |
7: 19,000,560 |
|
probably null |
Het |
| Rasa3 |
C |
A |
8: 13,583,830 |
V478L |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,469,046 |
M1372K |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,952,531 |
Q297R |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,586,075 |
D172G |
possibly damaging |
Het |
| Tulp2 |
T |
A |
7: 45,520,808 |
V301D |
possibly damaging |
Het |
| Ubr2 |
G |
A |
17: 46,938,681 |
R1582W |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,952,837 |
S706P |
probably damaging |
Het |
| Vmn1r171 |
C |
A |
7: 23,633,001 |
S205Y |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,274,106 |
A754T |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,880,384 |
R184W |
probably damaging |
Het |
|
| Other mutations in Poli |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Poli
|
APN |
18 |
70525490 |
missense |
probably damaging |
1.00 |
|
IGL01506:Poli
|
APN |
18 |
70509731 |
missense |
probably benign |
|
|
IGL01958:Poli
|
APN |
18 |
70526586 |
missense |
possibly damaging |
0.46 |
|
IGL02375:Poli
|
APN |
18 |
70523292 |
missense |
probably damaging |
1.00 |
|
IGL02385:Poli
|
APN |
18 |
70526574 |
missense |
possibly damaging |
0.93 |
|
IGL02480:Poli
|
APN |
18 |
70525406 |
missense |
probably benign |
0.04 |
|
R0113:Poli
|
UTSW |
18 |
70528758 |
missense |
probably damaging |
1.00 |
|
R0184:Poli
|
UTSW |
18 |
70522731 |
missense |
probably damaging |
1.00 |
|
R0348:Poli
|
UTSW |
18 |
70523381 |
missense |
probably benign |
0.00 |
|
R1004:Poli
|
UTSW |
18 |
70525438 |
missense |
probably benign |
0.31 |
|
R1264:Poli
|
UTSW |
18 |
70517503 |
missense |
probably benign |
0.05 |
|
R1660:Poli
|
UTSW |
18 |
70509464 |
missense |
probably damaging |
0.99 |
|
R1992:Poli
|
UTSW |
18 |
70508987 |
missense |
probably damaging |
0.98 |
|
R2915:Poli
|
UTSW |
18 |
70522700 |
critical splice donor site |
probably null |
|
|
R4531:Poli
|
UTSW |
18 |
70517477 |
missense |
probably benign |
0.41 |
|
R4816:Poli
|
UTSW |
18 |
70522751 |
missense |
probably damaging |
1.00 |
|
R5393:Poli
|
UTSW |
18 |
70517428 |
nonsense |
probably null |
|
|
R5404:Poli
|
UTSW |
18 |
70509432 |
missense |
probably benign |
0.15 |
|
R5559:Poli
|
UTSW |
18 |
70509285 |
missense |
probably benign |
0.02 |
|
R5957:Poli
|
UTSW |
18 |
70517440 |
missense |
probably benign |
|
|
R6045:Poli
|
UTSW |
18 |
70517469 |
missense |
possibly damaging |
0.75 |
|
R6385:Poli
|
UTSW |
18 |
70530001 |
start gained |
probably benign |
|
|
R6807:Poli
|
UTSW |
18 |
70530151 |
splice site |
probably null |
|
|
R7024:Poli
|
UTSW |
18 |
70516849 |
missense |
possibly damaging |
0.68 |
|
R7067:Poli
|
UTSW |
18 |
70509417 |
nonsense |
probably null |
|
|
R7452:Poli
|
UTSW |
18 |
70508978 |
missense |
possibly damaging |
0.94 |
|
R7653:Poli
|
UTSW |
18 |
70509627 |
missense |
probably benign |
|
|
R7685:Poli
|
UTSW |
18 |
70525519 |
missense |
probably benign |
0.13 |
|
R7857:Poli
|
UTSW |
18 |
70509154 |
missense |
probably benign |
0.01 |
|
R7872:Poli
|
UTSW |
18 |
70522820 |
missense |
probably damaging |
1.00 |
|
R9184:Poli
|
UTSW |
18 |
70509179 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGGAGACTTGTCCTCTCCAAAAC -3'
(R):5'- TGCGGGAAGCCATGTATAATCAGC -3'
Sequencing Primer
(F):5'- TCTCCAAAACTGAGCTGCTGG -3'
(R):5'- AGCAGACGGTCTTACTACCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation