Incidental Mutation 'IGL02274:Parp9'
| ID |
287276 |
| 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: 0.159)
|
| Stock # |
IGL02274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
35759360-35792975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35768317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 166
(R166W)
|
| 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: R166W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: R166W
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
A |
G |
8: 14,997,205 (GRCm39) |
D48G |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,734 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna2d3 |
G |
T |
14: 28,678,827 (GRCm39) |
|
probably null |
Het |
| Cbs |
T |
C |
17: 31,844,922 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
C |
A |
11: 6,540,808 (GRCm39) |
T216K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,220,473 (GRCm39) |
W131* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,047,621 (GRCm39) |
R318G |
possibly damaging |
Het |
| Gsta3 |
T |
G |
1: 21,320,012 (GRCm39) |
V6G |
possibly damaging |
Het |
| Hdlbp |
A |
T |
1: 93,336,229 (GRCm39) |
|
probably null |
Het |
| Igkv13-55-1 |
T |
G |
6: 69,577,132 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rd |
A |
G |
14: 26,821,867 (GRCm39) |
Y387C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,369,742 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
T |
5: 23,705,758 (GRCm39) |
T1344I |
probably benign |
Het |
| L3mbtl4 |
A |
C |
17: 69,071,579 (GRCm39) |
H502P |
probably benign |
Het |
| Lrig1 |
A |
T |
6: 94,640,919 (GRCm39) |
N95K |
possibly damaging |
Het |
| Neurl2 |
G |
T |
2: 164,675,012 (GRCm39) |
R117S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,035,845 (GRCm39) |
A449T |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,975,767 (GRCm39) |
V435E |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,445,735 (GRCm39) |
I158T |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,142,218 (GRCm39) |
Y143H |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rab3gap1 |
T |
G |
1: 127,866,817 (GRCm39) |
S881A |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,992,329 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,064,839 (GRCm39) |
I418F |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,503,941 (GRCm39) |
H1300P |
probably damaging |
Het |
| Tmppe |
A |
G |
9: 114,234,499 (GRCm39) |
H266R |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,232,896 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,338,995 (GRCm39) |
E412G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,419,429 (GRCm39) |
V2910A |
unknown |
Het |
|
| Other mutations in Parp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Parp9
|
APN |
16 |
35,768,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation