Incidental Mutation 'IGL03201:Parp8'
ID |
413001 |
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 # |
IGL03201
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
116991356-117162073 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 116999605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022239]
[ENSMUST00000223949]
[ENSMUST00000226107]
|
AlphaFold |
Q3UD82 |
Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000223949
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226107
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
Cep170 |
G |
A |
1: 176,564,454 (GRCm39) |
S1464F |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
Fscn3 |
T |
C |
6: 28,430,604 (GRCm39) |
V258A |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
Ino80d |
G |
T |
1: 63,097,467 (GRCm39) |
T809K |
probably damaging |
Het |
Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
C |
12: 79,100,430 (GRCm39) |
W133R |
probably damaging |
Het |
Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,460,727 (GRCm39) |
L230P |
probably damaging |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
Zfp949 |
A |
G |
9: 88,450,717 (GRCm39) |
R96G |
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 |
IGL02398:Parp8
|
APN |
13 |
117,047,399 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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 |
2016-08-02 |