Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01365:Parp9'

75904

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: 0.226) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

35938470-35972605 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35947954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 168 (T168I)

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

possibly damaging
Transcript: ENSMUST00000114878
AA Change: T168I

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906
AA Change: T168I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	G	T	8: 83,723,889		probably null	Het
Agtr1a	A	G	13: 30,381,828	Y292C	probably damaging	Het
Btbd11	T	C	10: 85,633,816	V867A	possibly damaging	Het
CK137956	A	G	4: 127,951,342	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576	G390D	probably damaging	Het
Cttnbp2nl	T	C	3: 105,005,030	T513A	probably damaging	Het
Dppa2	A	G	16: 48,313,913	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,593,523	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,904,984	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,790,907	L223Q	probably damaging	Het
Lrrk1	A	G	7: 66,287,701	I901T	probably damaging	Het
Macf1	T	C	4: 123,391,169	Y3624C	probably damaging	Het
Mios	T	A	6: 8,216,089	Y428*	probably null	Het
Myb	A	G	10: 21,152,502	I154T	probably benign	Het
Olfr294	T	C	7: 86,615,997	Y216C	probably damaging	Het
Pramel7	T	C	2: 87,491,413		probably benign	Het
Ptar1	T	A	19: 23,705,801	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,098,317	D400E	probably benign	Het
Setd3	A	T	12: 108,157,906	Y175N	probably damaging	Het
Slc5a8	C	T	10: 88,892,097		probably benign	Het
Slc8a3	A	G	12: 81,315,376	V223A	probably damaging	Het
Srsf1	G	T	11: 88,049,181	R173L	possibly damaging	Het
Svep1	T	A	4: 58,100,878		probably null	Het
Tead2	T	A	7: 45,217,251	D11E	probably damaging	Het
Trappc12	T	A	12: 28,747,402	I44F	probably damaging	Het
Ttll9	T	C	2: 153,000,134	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,191	N6K	possibly damaging	Het

Other mutations in Parp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Parp9	APN	16	35947998	missense	probably damaging	1.00
IGL01628:Parp9	APN	16	35956915	missense	possibly damaging	0.58
IGL02274:Parp9	APN	16	35947947	missense	probably damaging	1.00
IGL02693:Parp9	APN	16	35956970	missense	probably benign	0.01
R0109:Parp9	UTSW	16	35948341	missense	probably damaging	0.97
R0109:Parp9	UTSW	16	35948341	missense	probably damaging	0.97
R0559:Parp9	UTSW	16	35947992	missense	probably benign	0.00
R1126:Parp9	UTSW	16	35947740	missense	possibly damaging	0.53
R1346:Parp9	UTSW	16	35956897	missense	probably benign	0.00
R1472:Parp9	UTSW	16	35953680	missense	possibly damaging	0.78
R1642:Parp9	UTSW	16	35967697	missense	probably benign	0.37
R1900:Parp9	UTSW	16	35972221	missense	probably benign	0.00
R2055:Parp9	UTSW	16	35953614	missense	probably damaging	0.97
R3177:Parp9	UTSW	16	35948208	missense	probably damaging	0.99
R3277:Parp9	UTSW	16	35948208	missense	probably damaging	0.99
R4039:Parp9	UTSW	16	35960047	missense	probably damaging	1.00
R4869:Parp9	UTSW	16	35956904	missense	probably damaging	0.99
R4950:Parp9	UTSW	16	35948007	missense	probably damaging	1.00
R5112:Parp9	UTSW	16	35964313	missense	probably damaging	1.00
R5117:Parp9	UTSW	16	35971832	splice site	probably null
R5180:Parp9	UTSW	16	35953736	nonsense	probably null
R5415:Parp9	UTSW	16	35943382	missense	probably damaging	0.97
R5535:Parp9	UTSW	16	35956825	missense	probably damaging	0.98
R5727:Parp9	UTSW	16	35964097	nonsense	probably null
R5842:Parp9	UTSW	16	35943408	missense	possibly damaging	0.46
R5942:Parp9	UTSW	16	35971889	missense	possibly damaging	0.90
R6110:Parp9	UTSW	16	35953626	missense	possibly damaging	0.86
R6193:Parp9	UTSW	16	35947551	missense	possibly damaging	0.64
R6707:Parp9	UTSW	16	35947933	missense	probably damaging	1.00
R6957:Parp9	UTSW	16	35948346	missense	probably benign	0.00
R7014:Parp9	UTSW	16	35960063	critical splice donor site	probably null
R7064:Parp9	UTSW	16	35953672	missense	probably benign	0.07
R7205:Parp9	UTSW	16	35956990	missense	probably benign	0.00
R7221:Parp9	UTSW	16	35953701	missense	probably benign	0.00
R7693:Parp9	UTSW	16	35956912	missense	possibly damaging	0.67
R8810:Parp9	UTSW	16	35953611	nonsense	probably null
R9154:Parp9	UTSW	16	35948173	missense	probably damaging	0.99
R9449:Parp9	UTSW	16	35956864	missense	probably damaging	1.00

Posted On

2013-10-07