Incidental Mutation 'R4950:Parp9'
| ID |
381943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp9
|
| Ensembl Gene |
ENSMUSG00000022906 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 9 |
| Synonyms |
|
| MMRRC Submission |
042547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R4950 (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 35768377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 186
(I186F)
|
| 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: I186F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: I186F
| 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 |
0.7874 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
T |
2: 154,153,579 (GRCm39) |
D215V |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,252,872 (GRCm39) |
E625G |
probably damaging |
Het |
| Cage1 |
C |
T |
13: 38,207,302 (GRCm39) |
S181N |
possibly damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,822,711 (GRCm39) |
I887L |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,945,495 (GRCm39) |
K1408* |
probably null |
Het |
| Cngb1 |
C |
A |
8: 95,975,135 (GRCm39) |
G654W |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Ddi1 |
A |
G |
9: 6,266,073 (GRCm39) |
S99P |
probably benign |
Het |
| Disp3 |
A |
T |
4: 148,342,583 (GRCm39) |
D622E |
possibly damaging |
Het |
| Dnajc22 |
G |
A |
15: 98,999,615 (GRCm39) |
V267I |
probably benign |
Het |
| Dph5 |
G |
A |
3: 115,722,292 (GRCm39) |
G257S |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,733 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,839,534 (GRCm39) |
R2237G |
unknown |
Het |
| Fez1 |
G |
A |
9: 36,779,178 (GRCm39) |
R285Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,777,276 (GRCm39) |
H101L |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,758 (GRCm39) |
C1359Y |
probably benign |
Het |
| Fxyd7 |
G |
A |
7: 30,746,815 (GRCm39) |
T15I |
probably benign |
Het |
| Gpr155 |
A |
T |
2: 73,212,529 (GRCm39) |
D31E |
probably benign |
Het |
| Iho1 |
A |
C |
9: 108,298,709 (GRCm39) |
S36R |
probably damaging |
Het |
| Irx6 |
A |
T |
8: 93,405,428 (GRCm39) |
Y432F |
probably damaging |
Het |
| Itih5 |
A |
C |
2: 10,239,892 (GRCm39) |
I340L |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,822,572 (GRCm39) |
L164S |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,845,274 (GRCm39) |
I490T |
probably damaging |
Het |
| Mef2b |
T |
C |
8: 70,619,846 (GRCm39) |
Y311H |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,276,537 (GRCm39) |
L111Q |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,276,091 (GRCm39) |
D475G |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,645,273 (GRCm39) |
I1155T |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
G |
A |
9: 19,695,027 (GRCm39) |
M199I |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,297 (GRCm39) |
I227T |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,283 (GRCm39) |
V421E |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,620 (GRCm39) |
I178K |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,578,569 (GRCm39) |
K836E |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,058,752 (GRCm39) |
|
probably null |
Het |
| Pwp2 |
A |
G |
10: 78,018,840 (GRCm39) |
Y56H |
probably benign |
Het |
| Rarb |
G |
A |
14: 16,432,085 (GRCm38) |
|
probably benign |
Het |
| Rpain |
C |
G |
11: 70,861,747 (GRCm39) |
H50Q |
probably benign |
Het |
| Rps9 |
CTGTTTG |
CTG |
7: 3,707,758 (GRCm39) |
|
probably null |
Het |
| Rubcn |
A |
T |
16: 32,663,563 (GRCm39) |
S358T |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,756,897 (GRCm39) |
R1586C |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,730 (GRCm39) |
I669V |
probably benign |
Het |
| Slx1b |
T |
C |
7: 126,290,939 (GRCm39) |
|
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,106,485 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,233,700 (GRCm39) |
I288V |
possibly damaging |
Het |
| Tlr2 |
C |
A |
3: 83,744,639 (GRCm39) |
E481D |
probably damaging |
Het |
| Trim17 |
A |
T |
11: 58,861,254 (GRCm39) |
D253V |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,227 (GRCm39) |
D429G |
probably damaging |
Het |
| Vstm5 |
A |
G |
9: 15,169,090 (GRCm39) |
|
probably null |
Het |
| Vwa3b |
A |
G |
1: 37,124,413 (GRCm39) |
Q337R |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,143,734 (GRCm39) |
N172S |
probably benign |
Het |
| Zfp607a |
T |
A |
7: 27,578,176 (GRCm39) |
H415Q |
probably damaging |
Het |
| Zfp87 |
G |
A |
13: 67,666,018 (GRCm39) |
T148I |
probably benign |
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 |
|
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'- CTTGGTGAAAACTGGTGGC -3'
(R):5'- AACAGTGGGGTCCTCATTGC -3'
Sequencing Primer
(F):5'- ACTGGTGGCTTTGAAATCCAAG -3'
(R):5'- GGTCCTCATTGCTCACCAGATG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation