Incidental Mutation 'R1004:Poli'
| ID |
98011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poli
|
| Ensembl Gene |
ENSMUSG00000038425 |
| Gene Name |
polymerase (DNA directed), iota |
| Synonyms |
Rad30b |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70658509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 75
(Q75L)
|
| 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: Q98L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: Q98L
| 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: Q161L
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: Q161L
| 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: Q75L
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: Q75L
| 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: Q98L
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
AA Change: Q98L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMS
|
1 |
127 |
5.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161542
AA Change: Q98L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: Q98L
| 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 |
|
| Meta Mutation Damage Score |
0.2524 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,422,937 (GRCm39) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCCTTGACGAGACTGGCAAGAC -3'
(R):5'- GAGGACCTTGTCCAAGATGCTGTG -3'
Sequencing Primer
(F):5'- ACTGGCAAGACTTCATTTTGGC -3'
(R):5'- cacacacacaatactacacagac -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation