Incidental Mutation 'R6707:Parp9'
| ID |
528999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp9
|
| Ensembl Gene |
ENSMUSG00000022906 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 9 |
| Synonyms |
|
| MMRRC Submission |
044825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
35759360-35792975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35768303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 161
(H161L)
|
| 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: H161L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: H161L
| 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 |
|
| Meta Mutation Damage Score |
0.9412 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
| Actg2 |
C |
T |
6: 83,490,076 (GRCm39) |
W341* |
probably null |
Het |
| Adam29 |
C |
T |
8: 56,325,135 (GRCm39) |
G440R |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,496,903 (GRCm39) |
D1153G |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,211,624 (GRCm39) |
T120A |
possibly damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,073,224 (GRCm39) |
Q1371K |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,222 (GRCm39) |
D122E |
probably benign |
Het |
| Boc |
A |
T |
16: 44,320,979 (GRCm39) |
I227N |
possibly damaging |
Het |
| Clca3b |
T |
A |
3: 144,550,288 (GRCm39) |
Q219L |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,252,606 (GRCm39) |
V1943M |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,174,944 (GRCm39) |
F448Y |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,673,058 (GRCm39) |
M489T |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Ecpas |
T |
A |
4: 58,879,101 (GRCm39) |
I63L |
possibly damaging |
Het |
| Eqtn |
T |
C |
4: 94,796,056 (GRCm39) |
D215G |
probably benign |
Het |
| Evi5l |
A |
T |
8: 4,256,322 (GRCm39) |
T706S |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,770 (GRCm39) |
E90G |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,244,682 (GRCm39) |
S168T |
probably benign |
Het |
| Ipo4 |
C |
A |
14: 55,866,361 (GRCm39) |
V773L |
possibly damaging |
Het |
| Ireb2 |
C |
T |
9: 54,811,245 (GRCm39) |
T716I |
probably damaging |
Het |
| Klhl21 |
A |
G |
4: 152,096,784 (GRCm39) |
D350G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,241,086 (GRCm39) |
N821I |
probably damaging |
Het |
| Nipbl |
G |
T |
15: 8,354,043 (GRCm39) |
T1698K |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,391,817 (GRCm39) |
H686R |
probably benign |
Het |
| Ntf3 |
A |
G |
6: 126,141,691 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,608 (GRCm39) |
T180A |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,392,539 (GRCm39) |
N1625D |
probably benign |
Het |
| Rdx |
T |
C |
9: 51,974,954 (GRCm39) |
F30S |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,736,173 (GRCm39) |
V55E |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,673,698 (GRCm39) |
N96K |
probably damaging |
Het |
| Spp2 |
T |
G |
1: 88,345,016 (GRCm39) |
|
probably null |
Het |
| Tex46 |
A |
G |
4: 136,340,161 (GRCm39) |
N82S |
probably benign |
Het |
| Timm22 |
C |
T |
11: 76,298,151 (GRCm39) |
L41F |
possibly damaging |
Het |
| Tmem30a |
A |
T |
9: 79,681,547 (GRCm39) |
Y207* |
probably null |
Het |
| Tmem70 |
T |
C |
1: 16,747,531 (GRCm39) |
V216A |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,302 (GRCm39) |
N151S |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,948,364 (GRCm39) |
C537R |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,545,583 (GRCm39) |
Y339C |
probably damaging |
Het |
| Zp2 |
C |
T |
7: 119,733,145 (GRCm39) |
G599R |
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 |
|
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 |
|
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'- CGCAGCCAATGAAAACCTTTTG -3'
(R):5'- TACCGAACATTTGCTTGTCTTGG -3'
Sequencing Primer
(F):5'- AAACCTTTTGCATGGAAGTGGCC -3'
(R):5'- GCTTGTCTTGGAAATAAAGCCG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation