Incidental Mutation 'IGL02398:Parp8'
| ID |
291786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parp8
|
| Ensembl Gene |
ENSMUSG00000021725 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 8 |
| Synonyms |
D13Ertd275e, 2810430O08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
116991356-117162073 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 117047399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022239]
[ENSMUST00000223949]
[ENSMUST00000225344]
[ENSMUST00000226107]
|
| AlphaFold |
Q3UD82 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022239
|
| SMART Domains |
Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
228 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
332 |
410 |
4.61e-10 |
PROSPERO |
|
internal_repeat_1
|
404 |
476 |
4.61e-10 |
PROSPERO |
|
low complexity region
|
497 |
514 |
N/A |
INTRINSIC |
|
Pfam:PARP
|
712 |
839 |
2e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226107
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
A |
17: 57,709,824 (GRCm39) |
C160* |
probably null |
Het |
| Alkbh8 |
C |
T |
9: 3,345,870 (GRCm39) |
P197S |
possibly damaging |
Het |
| Ankef1 |
A |
C |
2: 136,397,702 (GRCm39) |
N761T |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,866,696 (GRCm39) |
Y72C |
probably damaging |
Het |
| Cfap36 |
T |
G |
11: 29,172,833 (GRCm39) |
M231L |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,563,432 (GRCm39) |
C227R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,793,970 (GRCm39) |
E568D |
probably benign |
Het |
| Cwc27 |
G |
A |
13: 104,940,762 (GRCm39) |
T199I |
possibly damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,688,467 (GRCm39) |
I330V |
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,579 (GRCm39) |
V254A |
probably benign |
Het |
| Dhrs7 |
G |
A |
12: 72,711,466 (GRCm39) |
R24C |
probably damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,127,455 (GRCm39) |
C838S |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,657,829 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
T |
A |
4: 127,219,855 (GRCm39) |
S226C |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,637,963 (GRCm39) |
I346V |
probably benign |
Het |
| Gm8050 |
T |
C |
14: 17,930,894 (GRCm39) |
E172G |
probably damaging |
Het |
| Higd1a |
G |
A |
9: 121,681,590 (GRCm39) |
R22W |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,678,648 (GRCm39) |
L491S |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,426 (GRCm39) |
S794P |
possibly damaging |
Het |
| Irgm2 |
A |
T |
11: 58,110,755 (GRCm39) |
I161F |
probably damaging |
Het |
| Lrp8 |
G |
T |
4: 107,704,691 (GRCm39) |
V304F |
probably damaging |
Het |
| Lrp8 |
C |
A |
4: 107,726,245 (GRCm39) |
S850R |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,513,677 (GRCm39) |
M513L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,978,178 (GRCm39) |
V1248E |
possibly damaging |
Het |
| Myo1b |
A |
T |
1: 51,797,050 (GRCm39) |
N945K |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,356,574 (GRCm39) |
L1604P |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,989,568 (GRCm39) |
Y169F |
probably benign |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or2a56 |
A |
T |
6: 42,933,046 (GRCm39) |
I205F |
probably benign |
Het |
| Or52r1c |
G |
A |
7: 102,735,313 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or8k22 |
A |
T |
2: 86,162,868 (GRCm39) |
Y277* |
probably null |
Het |
| Pde4dip |
T |
C |
3: 97,674,097 (GRCm39) |
Y273C |
probably benign |
Het |
| Pgbd5 |
C |
T |
8: 125,111,257 (GRCm39) |
A54T |
probably damaging |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,424 (GRCm39) |
|
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,302 (GRCm39) |
S1819R |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,913,540 (GRCm39) |
|
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,944,886 (GRCm39) |
I61V |
probably benign |
Het |
| Prlhr |
G |
T |
19: 60,455,753 (GRCm39) |
A271E |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,350,360 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,114 (GRCm39) |
S132R |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,020,980 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,677,767 (GRCm39) |
D1327G |
probably benign |
Het |
| Slit1 |
A |
C |
19: 41,590,676 (GRCm39) |
V1332G |
probably damaging |
Het |
| Spin2h |
A |
G |
X: 32,162,153 (GRCm39) |
D224G |
probably damaging |
Het |
| Tmem178b |
A |
G |
6: 40,184,461 (GRCm39) |
M120V |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,630 (GRCm39) |
C106R |
probably damaging |
Het |
| Trim35 |
A |
G |
14: 66,546,697 (GRCm39) |
Y488C |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,840,703 (GRCm39) |
H326Q |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,950,536 (GRCm39) |
I315K |
probably benign |
Het |
| Zfp654 |
A |
G |
16: 64,606,381 (GRCm39) |
V607A |
probably benign |
Het |
|
| Other mutations in Parp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Parp8
|
APN |
13 |
117,063,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01346:Parp8
|
APN |
13 |
117,031,600 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01793:Parp8
|
APN |
13 |
117,047,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Parp8
|
APN |
13 |
116,998,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL01958:Parp8
|
APN |
13 |
117,013,108 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02131:Parp8
|
APN |
13 |
117,047,409 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02496:Parp8
|
APN |
13 |
116,998,838 (GRCm39) |
splice site |
probably benign |
|
|
IGL03135:Parp8
|
APN |
13 |
117,047,478 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03143:Parp8
|
APN |
13 |
117,047,497 (GRCm39) |
splice site |
probably benign |
|
|
IGL03201:Parp8
|
APN |
13 |
116,999,605 (GRCm39) |
splice site |
probably benign |
|
|
blondi
|
UTSW |
13 |
117,029,577 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Heidi
|
UTSW |
13 |
116,998,740 (GRCm39) |
splice site |
probably null |
|
|
R0362:Parp8
|
UTSW |
13 |
117,061,504 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Parp8
|
UTSW |
13 |
117,059,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1445:Parp8
|
UTSW |
13 |
117,161,886 (GRCm39) |
splice site |
probably null |
|
|
R1676:Parp8
|
UTSW |
13 |
117,014,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1977:Parp8
|
UTSW |
13 |
117,047,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2019:Parp8
|
UTSW |
13 |
117,004,968 (GRCm39) |
splice site |
probably benign |
|
|
R2049:Parp8
|
UTSW |
13 |
117,031,422 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2142:Parp8
|
UTSW |
13 |
117,031,422 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2474:Parp8
|
UTSW |
13 |
117,029,577 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2566:Parp8
|
UTSW |
13 |
117,032,223 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3863:Parp8
|
UTSW |
13 |
117,031,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4126:Parp8
|
UTSW |
13 |
117,005,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4518:Parp8
|
UTSW |
13 |
117,032,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4519:Parp8
|
UTSW |
13 |
117,032,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4767:Parp8
|
UTSW |
13 |
117,005,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5355:Parp8
|
UTSW |
13 |
116,998,740 (GRCm39) |
splice site |
probably null |
|
|
R5633:Parp8
|
UTSW |
13 |
117,013,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Parp8
|
UTSW |
13 |
117,005,969 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5978:Parp8
|
UTSW |
13 |
117,032,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6039:Parp8
|
UTSW |
13 |
117,014,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Parp8
|
UTSW |
13 |
117,014,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Parp8
|
UTSW |
13 |
117,031,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7016:Parp8
|
UTSW |
13 |
117,031,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Parp8
|
UTSW |
13 |
117,161,802 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7305:Parp8
|
UTSW |
13 |
117,031,461 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7314:Parp8
|
UTSW |
13 |
117,004,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Parp8
|
UTSW |
13 |
117,032,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7526:Parp8
|
UTSW |
13 |
117,031,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Parp8
|
UTSW |
13 |
117,061,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Parp8
|
UTSW |
13 |
117,003,609 (GRCm39) |
nonsense |
probably null |
|
|
R8372:Parp8
|
UTSW |
13 |
116,991,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Parp8
|
UTSW |
13 |
117,013,126 (GRCm39) |
missense |
probably benign |
|
|
R9072:Parp8
|
UTSW |
13 |
117,047,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Parp8
|
UTSW |
13 |
117,047,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Parp8
|
UTSW |
13 |
117,000,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9441:Parp8
|
UTSW |
13 |
117,029,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Parp8
|
UTSW |
13 |
117,039,360 (GRCm39) |
nonsense |
probably null |
|
|
R9470:Parp8
|
UTSW |
13 |
117,031,292 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9562:Parp8
|
UTSW |
13 |
117,029,631 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation