Incidental Mutation 'IGL01160:Parp9'
ID |
54014 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Parp9
|
Ensembl Gene |
ENSMUSG00000022906 |
Gene Name |
poly (ADP-ribose) polymerase family, member 9 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
IGL01160
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
35759360-35792975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35768368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 183
(I183F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023622]
[ENSMUST00000114877]
[ENSMUST00000114878]
[ENSMUST00000122870]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023622
|
SMART Domains |
Protein: ENSMUSP00000023622 Gene: ENSMUSG00000022906
Domain | Start | End | E-Value | Type |
Pfam:Macro
|
74 |
182 |
1.5e-16 |
PFAM |
PDB:3HKV|B
|
386 |
559 |
3e-9 |
PDB |
SCOP:d1a26_2
|
403 |
521 |
1e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114877
|
SMART Domains |
Protein: ENSMUSP00000110527 Gene: ENSMUSG00000022906
Domain | Start | End | E-Value | Type |
A1pp
|
121 |
257 |
6.75e-33 |
SMART |
A1pp
|
325 |
451 |
9.37e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114878
AA Change: I183F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110528 Gene: ENSMUSG00000022906 AA Change: I183F
Domain | Start | End | E-Value | Type |
A1pp
|
85 |
221 |
6.75e-33 |
SMART |
A1pp
|
289 |
415 |
9.37e-9 |
SMART |
PDB:3HKV|B
|
619 |
792 |
4e-8 |
PDB |
SCOP:d1a26_2
|
636 |
754 |
1e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128878
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153066
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159160
|
SMART Domains |
Protein: ENSMUSP00000124098 Gene: ENSMUSG00000022906
Domain | Start | End | E-Value | Type |
Pfam:Macro
|
29 |
100 |
8.3e-9 |
PFAM |
|
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 |
Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
Dpep2 |
C |
T |
8: 106,713,076 (GRCm39) |
V440M |
possibly damaging |
Het |
F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
Irf3 |
C |
A |
7: 44,648,220 (GRCm39) |
D28E |
possibly damaging |
Het |
Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
Pcf11 |
A |
G |
7: 92,310,894 (GRCm39) |
S365P |
possibly damaging |
Het |
Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
Slc28a2b |
A |
C |
2: 122,355,277 (GRCm39) |
|
probably null |
Het |
Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
Spart |
T |
A |
3: 55,029,177 (GRCm39) |
F323I |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
Tmc4 |
T |
C |
7: 3,678,517 (GRCm39) |
Y38C |
possibly damaging |
Het |
Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
probably damaging |
Het |
|
Other mutations in Parp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01365:Parp9
|
APN |
16 |
35,768,324 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01628:Parp9
|
APN |
16 |
35,777,285 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02274:Parp9
|
APN |
16 |
35,768,317 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02693:Parp9
|
APN |
16 |
35,777,340 (GRCm39) |
missense |
probably benign |
0.01 |
R0109:Parp9
|
UTSW |
16 |
35,768,711 (GRCm39) |
missense |
probably damaging |
0.97 |
R0109:Parp9
|
UTSW |
16 |
35,768,711 (GRCm39) |
missense |
probably damaging |
0.97 |
R0559:Parp9
|
UTSW |
16 |
35,768,362 (GRCm39) |
missense |
probably benign |
0.00 |
R1126:Parp9
|
UTSW |
16 |
35,768,110 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1346:Parp9
|
UTSW |
16 |
35,777,267 (GRCm39) |
missense |
probably benign |
0.00 |
R1472:Parp9
|
UTSW |
16 |
35,774,050 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1642:Parp9
|
UTSW |
16 |
35,788,067 (GRCm39) |
missense |
probably benign |
0.37 |
R1900:Parp9
|
UTSW |
16 |
35,792,591 (GRCm39) |
missense |
probably benign |
0.00 |
R2055:Parp9
|
UTSW |
16 |
35,773,984 (GRCm39) |
missense |
probably damaging |
0.97 |
R3177:Parp9
|
UTSW |
16 |
35,768,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R3277:Parp9
|
UTSW |
16 |
35,768,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R4039:Parp9
|
UTSW |
16 |
35,780,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R4869:Parp9
|
UTSW |
16 |
35,777,274 (GRCm39) |
missense |
probably damaging |
0.99 |
R4950:Parp9
|
UTSW |
16 |
35,768,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Parp9
|
UTSW |
16 |
35,784,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R5117:Parp9
|
UTSW |
16 |
35,792,202 (GRCm39) |
splice site |
probably null |
|
R5180:Parp9
|
UTSW |
16 |
35,774,106 (GRCm39) |
nonsense |
probably null |
|
R5415:Parp9
|
UTSW |
16 |
35,763,752 (GRCm39) |
missense |
probably damaging |
0.97 |
R5535:Parp9
|
UTSW |
16 |
35,777,195 (GRCm39) |
missense |
probably damaging |
0.98 |
R5727:Parp9
|
UTSW |
16 |
35,784,467 (GRCm39) |
nonsense |
probably null |
|
R5842:Parp9
|
UTSW |
16 |
35,763,778 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5942:Parp9
|
UTSW |
16 |
35,792,259 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6110:Parp9
|
UTSW |
16 |
35,773,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6193:Parp9
|
UTSW |
16 |
35,767,921 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6707:Parp9
|
UTSW |
16 |
35,768,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R6957:Parp9
|
UTSW |
16 |
35,768,716 (GRCm39) |
missense |
probably benign |
0.00 |
R7014:Parp9
|
UTSW |
16 |
35,780,433 (GRCm39) |
critical splice donor site |
probably null |
|
R7064:Parp9
|
UTSW |
16 |
35,774,042 (GRCm39) |
missense |
probably benign |
0.07 |
R7205:Parp9
|
UTSW |
16 |
35,777,360 (GRCm39) |
missense |
probably benign |
0.00 |
R7221:Parp9
|
UTSW |
16 |
35,774,071 (GRCm39) |
missense |
probably benign |
0.00 |
R7693:Parp9
|
UTSW |
16 |
35,777,282 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8810:Parp9
|
UTSW |
16 |
35,773,981 (GRCm39) |
nonsense |
probably null |
|
R9154:Parp9
|
UTSW |
16 |
35,768,543 (GRCm39) |
missense |
probably damaging |
0.99 |
R9449:Parp9
|
UTSW |
16 |
35,777,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-28 |