Incidental Mutation 'IGL01958:Parp8'
ID |
181455 |
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 # |
IGL01958
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
116991356-117162073 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 117013108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 644
(K644Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022239]
[ENSMUST00000223949]
[ENSMUST00000226107]
|
AlphaFold |
Q3UD82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022239
AA Change: K644Q
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022239 Gene: ENSMUSG00000021725 AA Change: K644Q
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
AA Change: K605Q
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226107
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
T |
C |
10: 95,629,659 (GRCm39) |
I29T |
probably damaging |
Het |
Agps |
G |
A |
2: 75,740,045 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
G |
15: 10,393,794 (GRCm39) |
|
probably null |
Het |
Ahnak |
T |
C |
19: 8,992,273 (GRCm39) |
V4519A |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,852,853 (GRCm39) |
D159G |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,806,125 (GRCm39) |
I94V |
probably damaging |
Het |
Asph |
T |
C |
4: 9,474,904 (GRCm39) |
E674G |
possibly damaging |
Het |
Atat1 |
T |
A |
17: 36,219,735 (GRCm39) |
|
probably benign |
Het |
Ccar1 |
G |
A |
10: 62,626,714 (GRCm39) |
A20V |
possibly damaging |
Het |
Cdc26 |
T |
C |
4: 62,321,001 (GRCm39) |
D14G |
probably damaging |
Het |
Cdh15 |
T |
C |
8: 123,586,089 (GRCm39) |
F156S |
probably damaging |
Het |
Dctn1 |
A |
G |
6: 83,168,326 (GRCm39) |
T525A |
possibly damaging |
Het |
Dnah8 |
T |
G |
17: 31,074,869 (GRCm39) |
|
probably benign |
Het |
Dnajc10 |
T |
A |
2: 80,151,648 (GRCm39) |
|
probably benign |
Het |
Dtl |
C |
A |
1: 191,300,489 (GRCm39) |
W125L |
probably damaging |
Het |
Fam3c |
G |
A |
6: 22,318,954 (GRCm39) |
T149I |
probably damaging |
Het |
Fgd6 |
A |
G |
10: 93,974,170 (GRCm39) |
T1304A |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm6578 |
A |
G |
6: 12,099,766 (GRCm39) |
|
noncoding transcript |
Het |
Gnai1 |
A |
G |
5: 18,478,568 (GRCm39) |
F199S |
probably damaging |
Het |
Grb7 |
T |
A |
11: 98,345,480 (GRCm39) |
V480D |
probably damaging |
Het |
Hdc |
A |
G |
2: 126,436,452 (GRCm39) |
L473P |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,479,622 (GRCm39) |
N4614S |
probably benign |
Het |
Il20ra |
A |
G |
10: 19,634,791 (GRCm39) |
D344G |
probably benign |
Het |
Ints1 |
C |
T |
5: 139,745,843 (GRCm39) |
R1342Q |
possibly damaging |
Het |
Itga9 |
T |
A |
9: 118,465,562 (GRCm39) |
|
probably benign |
Het |
Kat14 |
T |
C |
2: 144,236,285 (GRCm39) |
L339P |
probably damaging |
Het |
Klhl22 |
A |
G |
16: 17,594,326 (GRCm39) |
I152V |
probably benign |
Het |
Krtap5-2 |
C |
A |
7: 141,729,459 (GRCm39) |
G74* |
probably null |
Het |
Lrrc59 |
C |
A |
11: 94,529,354 (GRCm39) |
|
probably null |
Het |
Map3k13 |
A |
G |
16: 21,710,873 (GRCm39) |
Q52R |
probably benign |
Het |
Mb21d2 |
A |
G |
16: 28,646,495 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
A |
T |
5: 124,463,053 (GRCm39) |
|
probably benign |
Het |
Myrf |
A |
G |
19: 10,187,742 (GRCm39) |
|
probably benign |
Het |
Nek11 |
T |
C |
9: 105,177,502 (GRCm39) |
T250A |
probably benign |
Het |
Nek5 |
A |
T |
8: 22,586,842 (GRCm39) |
V323E |
probably benign |
Het |
Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
Nup210l |
T |
A |
3: 90,111,231 (GRCm39) |
L1711Q |
possibly damaging |
Het |
Pcnt |
G |
T |
10: 76,269,513 (GRCm39) |
Q252K |
probably damaging |
Het |
Pianp |
A |
G |
6: 124,977,646 (GRCm39) |
T181A |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,799,298 (GRCm39) |
V2839A |
probably damaging |
Het |
Poli |
C |
T |
18: 70,659,657 (GRCm39) |
R58H |
possibly damaging |
Het |
Ptk7 |
T |
C |
17: 46,890,353 (GRCm39) |
D447G |
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,694,386 (GRCm39) |
I637V |
probably benign |
Het |
Rasip1 |
A |
T |
7: 45,286,188 (GRCm39) |
R804* |
probably null |
Het |
Relt |
A |
G |
7: 100,500,350 (GRCm39) |
V113A |
probably benign |
Het |
Rnf215 |
G |
T |
11: 4,090,317 (GRCm39) |
C345F |
probably damaging |
Het |
Scart2 |
T |
C |
7: 139,854,040 (GRCm39) |
C348R |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,532,173 (GRCm39) |
D595G |
probably damaging |
Het |
Serpina3k |
G |
A |
12: 104,307,316 (GRCm39) |
V183M |
probably damaging |
Het |
Snapc4 |
T |
C |
2: 26,256,452 (GRCm39) |
|
probably benign |
Het |
Sparcl1 |
A |
T |
5: 104,240,406 (GRCm39) |
D339E |
probably benign |
Het |
Tg |
T |
C |
15: 66,631,335 (GRCm39) |
F535L |
probably benign |
Het |
Zbtb45 |
C |
A |
7: 12,740,203 (GRCm39) |
A471S |
probably benign |
Het |
Zfp106 |
T |
A |
2: 120,365,288 (GRCm39) |
K373M |
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 |
|
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 |
|
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 |
2014-05-07 |