Incidental Mutation 'R7693:Parp9'
ID |
593515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp9
|
Ensembl Gene |
ENSMUSG00000022906 |
Gene Name |
poly (ADP-ribose) polymerase family, member 9 |
Synonyms |
|
MMRRC Submission |
045708-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R7693 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35759360-35792975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35777282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 409
(S409G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023622]
[ENSMUST00000114878]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023622
AA Change: S176G
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000023622 Gene: ENSMUSG00000022906 AA Change: S176G
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 |
possibly damaging
Transcript: ENSMUST00000114878
AA Change: S409G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110528 Gene: ENSMUSG00000022906 AA Change: S409G
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTGGCATGGTAAAATCTGAG -3'
(R):5'- CCTAGTGTGTTAGAACAGAGACAC -3'
Sequencing Primer
(F):5'- CTGGCATGGTAAAATCTGAGTAGAAC -3'
(R):5'- CAGAGACACTAATTGGTCATTGG -3'
|
Posted On |
2019-11-12 |