Incidental Mutation 'R1346:Parp9'
ID |
156523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp9
|
Ensembl Gene |
ENSMUSG00000022906 |
Gene Name |
poly (ADP-ribose) polymerase family, member 9 |
Synonyms |
|
MMRRC Submission |
039411-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R1346 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
35759360-35792975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35777267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 171
(M171L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023622]
[ENSMUST00000114877]
[ENSMUST00000114878]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023622
AA Change: M171L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023622 Gene: ENSMUSG00000022906 AA Change: M171L
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: M404L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110528 Gene: ENSMUSG00000022906 AA Change: M404L
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 |
|
Meta Mutation Damage Score |
0.0812 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACCTCCGTAGTCCATGCTATCC -3'
(R):5'- TGATGACCTTTGCGATTAGGCCAAG -3'
Sequencing Primer
(F):5'- CCAGGCTGGCATGGTAAAATC -3'
(R):5'- GAAATGTTAGAATCCCACCACATTG -3'
|
Posted On |
2014-02-11 |