Incidental Mutation 'R2915:Poli'
ID |
254871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poli
|
Ensembl Gene |
ENSMUSG00000038425 |
Gene Name |
polymerase (DNA directed), iota |
Synonyms |
Rad30b |
MMRRC Submission |
040502-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
70641751-70663691 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 70655771 bp (GRCm39)
|
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 |
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (50/51) |
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 |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,482,781 (GRCm39) |
|
probably benign |
Het |
Ice2 |
A |
G |
9: 69,318,122 (GRCm39) |
D241G |
probably benign |
Het |
Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
Nyap2 |
C |
T |
1: 81,065,188 (GRCm39) |
R67* |
probably null |
Het |
Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
Rad1 |
T |
C |
15: 10,486,728 (GRCm39) |
C42R |
probably damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
Tbc1d9b |
T |
A |
11: 50,040,563 (GRCm39) |
V360D |
possibly damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Wac |
A |
C |
18: 7,926,131 (GRCm39) |
M596L |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
Zzef1 |
G |
A |
11: 72,801,152 (GRCm39) |
|
probably null |
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 |
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'- TGCTAACTGGGTAATTATCCCCTC -3'
(R):5'- AACTGCCAAGCGTCTCGAAG -3'
Sequencing Primer
(F):5'- CCACTTTCCAAATCACTGAATTAGTC -3'
(R):5'- CGTCTCGAAGTTCTGGGAATCAATAG -3'
|
Posted On |
2014-12-29 |