Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01793:Parp8'

155268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp8

Ensembl Gene

ENSMUSG00000021725

Gene Name

poly (ADP-ribose) polymerase family, member 8

Synonyms

D13Ertd275e, 2810430O08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01793

Quality Score

Status

Chromosome

Chromosomal Location

116991356-117162073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117047415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 219 (Y219F)

Ref Sequence

ENSEMBL: ENSMUSP00000152911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022239] [ENSMUST00000223949] [ENSMUST00000225344] [ENSMUST00000226107]

AlphaFold

Q3UD82

Predicted Effect

probably damaging
Transcript: ENSMUST00000022239
AA Change: Y258F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: Y258F

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	217	228	N/A	INTRINSIC
internal_repeat_1	332	410	4.61e-10	PROSPERO
internal_repeat_1	404	476	4.61e-10	PROSPERO
low complexity region	497	514	N/A	INTRINSIC
Pfam:PARP	712	839	2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223949
AA Change: Y219F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably damaging
Transcript: ENSMUST00000226107
AA Change: Y219F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,375,783 (GRCm39)	I871V	possibly damaging	Het
Bbs7	A	T	3: 36,659,831 (GRCm39)		probably null	Het
D930020B18Rik	T	C	10: 121,507,736 (GRCm39)	I158T	probably damaging	Het
Drc7	T	C	8: 95,797,905 (GRCm39)	I441T	probably benign	Het
Etl4	T	C	2: 20,748,709 (GRCm39)	I147T	possibly damaging	Het
Fat1	G	A	8: 45,442,149 (GRCm39)	M1150I	probably benign	Het
Fbn1	T	C	2: 125,229,213 (GRCm39)	S523G	possibly damaging	Het
Gramd1a	C	T	7: 30,833,838 (GRCm39)		probably null	Het
Hc	A	G	2: 34,918,202 (GRCm39)	Y694H	probably damaging	Het
Kif6	T	A	17: 49,931,521 (GRCm39)	I73N	probably damaging	Het
Large1	A	G	8: 73,585,809 (GRCm39)		probably benign	Het
Luzp2	G	T	7: 54,821,997 (GRCm39)	L171F	probably damaging	Het
Naaladl1	C	A	19: 6,159,661 (GRCm39)		probably null	Het
Otop1	G	A	5: 38,457,215 (GRCm39)	A325T	possibly damaging	Het
Pkp3	A	G	7: 140,668,817 (GRCm39)	I660V	probably benign	Het
Plin3	T	C	17: 56,588,540 (GRCm39)	N238S	probably benign	Het
Ppef2	A	T	5: 92,394,615 (GRCm39)	D186E	probably damaging	Het
Rab40c	G	A	17: 26,103,596 (GRCm39)	L156F	probably damaging	Het
Scnn1a	T	C	6: 125,320,666 (GRCm39)	V547A	probably benign	Het
Spag6l	A	G	16: 16,599,721 (GRCm39)	V247A	probably damaging	Het
Syne1	T	C	10: 5,302,191 (GRCm39)	E853G	possibly damaging	Het
Synj2	C	T	17: 6,077,500 (GRCm39)	R460*	probably null	Het
Synj2	T	A	17: 6,088,321 (GRCm39)	H1457Q	probably benign	Het
Syt1	T	C	10: 108,419,836 (GRCm39)	D275G	possibly damaging	Het
Tmx1	A	G	12: 70,505,561 (GRCm39)	D108G	probably benign	Het
Vmn1r180	T	C	7: 23,652,668 (GRCm39)	V277A	probably benign	Het
Vmn1r83	C	T	7: 12,055,504 (GRCm39)	M184I	probably benign	Het
Zfp750	G	T	11: 121,404,810 (GRCm39)	P22T	probably damaging	Het
Zscan2	A	G	7: 80,524,692 (GRCm39)	I138V	probably null	Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	117,063,859 (GRCm39)	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	117,031,600 (GRCm39)	missense	possibly damaging	0.72
IGL01926:Parp8	APN	13	116,998,838 (GRCm39)	splice site	probably benign
IGL01958:Parp8	APN	13	117,013,108 (GRCm39)	missense	probably benign	0.14
IGL02131:Parp8	APN	13	117,047,409 (GRCm39)	missense	probably benign	0.08
IGL02398:Parp8	APN	13	117,047,399 (GRCm39)	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116,998,838 (GRCm39)	splice site	probably benign
IGL03135:Parp8	APN	13	117,047,478 (GRCm39)	missense	probably benign	0.41
IGL03143:Parp8	APN	13	117,047,497 (GRCm39)	splice site	probably benign
IGL03201:Parp8	APN	13	116,999,605 (GRCm39)	splice site	probably benign
blondi	UTSW	13	117,029,577 (GRCm39)	missense	possibly damaging	0.77
Heidi	UTSW	13	116,998,740 (GRCm39)	splice site	probably null
R0362:Parp8	UTSW	13	117,061,504 (GRCm39)	nonsense	probably null
R0699:Parp8	UTSW	13	117,059,120 (GRCm39)	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117,161,886 (GRCm39)	splice site	probably null
R1676:Parp8	UTSW	13	117,014,064 (GRCm39)	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	117,047,449 (GRCm39)	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	117,004,968 (GRCm39)	splice site	probably benign
R2049:Parp8	UTSW	13	117,031,422 (GRCm39)	missense	probably benign	0.20
R2142:Parp8	UTSW	13	117,031,422 (GRCm39)	missense	probably benign	0.20
R2474:Parp8	UTSW	13	117,029,577 (GRCm39)	missense	possibly damaging	0.77
R2566:Parp8	UTSW	13	117,032,223 (GRCm39)	missense	possibly damaging	0.78
R3863:Parp8	UTSW	13	117,031,303 (GRCm39)	missense	probably benign	0.01
R4126:Parp8	UTSW	13	117,005,005 (GRCm39)	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	117,032,209 (GRCm39)	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	117,032,209 (GRCm39)	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	117,005,072 (GRCm39)	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116,998,740 (GRCm39)	splice site	probably null
R5633:Parp8	UTSW	13	117,013,116 (GRCm39)	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	117,005,969 (GRCm39)	missense	probably benign	0.12
R5978:Parp8	UTSW	13	117,032,268 (GRCm39)	missense	probably benign	0.01
R6039:Parp8	UTSW	13	117,014,134 (GRCm39)	missense	probably damaging	1.00
R6039:Parp8	UTSW	13	117,014,134 (GRCm39)	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	117,031,651 (GRCm39)	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	117,031,627 (GRCm39)	missense	probably damaging	1.00
R7139:Parp8	UTSW	13	117,161,802 (GRCm39)	missense	probably benign	0.21
R7305:Parp8	UTSW	13	117,031,461 (GRCm39)	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	117,004,996 (GRCm39)	missense	probably benign	0.01
R7360:Parp8	UTSW	13	117,032,307 (GRCm39)	missense	probably benign	0.02
R7526:Parp8	UTSW	13	117,031,341 (GRCm39)	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	117,061,519 (GRCm39)	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	117,003,609 (GRCm39)	nonsense	probably null
R8372:Parp8	UTSW	13	116,991,786 (GRCm39)	missense	probably damaging	1.00
R9005:Parp8	UTSW	13	117,013,126 (GRCm39)	missense	probably benign
R9072:Parp8	UTSW	13	117,047,951 (GRCm39)	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	117,047,951 (GRCm39)	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	117,000,781 (GRCm39)	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	117,029,562 (GRCm39)	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	117,039,360 (GRCm39)	nonsense	probably null
R9470:Parp8	UTSW	13	117,031,292 (GRCm39)	missense	probably benign	0.02
R9562:Parp8	UTSW	13	117,029,631 (GRCm39)	missense	probably benign	0.16

Posted On

2014-02-04