Incidental Mutation 'IGL01628:Parp9'
| ID |
92842 |
| 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 # |
IGL01628
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
35759360-35792975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35777285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 177
(T177A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023622]
[ENSMUST00000114877]
[ENSMUST00000114878]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023622
AA Change: T177A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906
AA Change: T177A
| 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 benign
Transcript: ENSMUST00000114878
AA Change: T410A
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: T410A
| 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: 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
T |
C |
4: 154,045,436 (GRCm39) |
V155A |
probably damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,655,877 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
G |
3: 37,062,634 (GRCm39) |
V3382G |
probably damaging |
Het |
| Cd300ld |
A |
G |
11: 114,876,999 (GRCm39) |
I144T |
probably benign |
Het |
| Cmc1 |
A |
T |
9: 117,944,452 (GRCm39) |
I22K |
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,036,629 (GRCm39) |
N277S |
possibly damaging |
Het |
| Edil3 |
G |
T |
13: 89,467,945 (GRCm39) |
|
probably benign |
Het |
| Glipr2 |
C |
A |
4: 43,977,565 (GRCm39) |
A136E |
probably damaging |
Het |
| Gm8297 |
G |
A |
14: 16,164,995 (GRCm39) |
M1I |
probably null |
Het |
| Insrr |
C |
A |
3: 87,708,099 (GRCm39) |
C180* |
probably null |
Het |
| Kat2b |
A |
G |
17: 53,917,925 (GRCm39) |
N95D |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
| Or2h2 |
A |
T |
17: 37,396,192 (GRCm39) |
Y288* |
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,979,817 (GRCm39) |
Y361* |
probably null |
Het |
| Rusc2 |
A |
C |
4: 43,425,729 (GRCm39) |
Q1278P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,899,992 (GRCm39) |
L1225Q |
probably damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,874,683 (GRCm39) |
H206Q |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,099,010 (GRCm39) |
Y586C |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,730,106 (GRCm39) |
|
probably benign |
Het |
| Tnn |
A |
G |
1: 159,975,172 (GRCm39) |
I85T |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,769,036 (GRCm39) |
|
probably null |
Het |
| Wdr33 |
G |
T |
18: 32,021,363 (GRCm39) |
G638C |
unknown |
Het |
| Zfp976 |
T |
C |
7: 42,261,935 (GRCm39) |
Y634C |
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 |
|
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 |
2013-12-09 |
Incidental Mutation