Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01926:Parp8'

180319

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 #

IGL01926

Quality Score

Status

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 116862302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153188 (fasta)

Gene Model

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

AlphaFold

Q3UD82

Predicted Effect

probably benign
Transcript: ENSMUST00000022239

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725

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 benign
Transcript: ENSMUST00000223949

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,135,329		probably benign	Het
Ano1	C	T	7: 144,610,875	V671M	possibly damaging	Het
Atf7ip2	G	T	16: 10,241,885	D430Y	probably damaging	Het
Atp7b	A	T	8: 22,011,781	D740E	probably damaging	Het
Bbs1	A	C	19: 4,902,863	S191A	probably benign	Het
Capn5	C	T	7: 98,128,472		probably null	Het
Cyp2c40	A	G	19: 39,802,655	I244T	probably benign	Het
Dsg1a	G	T	18: 20,333,584	D504Y	possibly damaging	Het
Eif3a	T	C	19: 60,769,961	D793G	unknown	Het
Exoc4	C	A	6: 33,862,142	D704E	probably damaging	Het
Fmo5	A	C	3: 97,637,481	T109P	probably damaging	Het
Ggt5	A	G	10: 75,604,101	I179V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Irs1	G	T	1: 82,289,959	R179S	probably damaging	Het
Jmy	A	T	13: 93,459,786	V445E	probably damaging	Het
Jup	C	A	11: 100,383,586	V93F	probably benign	Het
Krt20	T	C	11: 99,437,826	Y91C	probably damaging	Het
Mug2	T	A	6: 122,036,104		probably benign	Het
Mybpc3	C	T	2: 91,135,407	T1188I	possibly damaging	Het
Myt1	T	C	2: 181,821,997	L1032P	probably benign	Het
Naip6	A	T	13: 100,300,196	N606K	probably damaging	Het
Nfrkb	A	T	9: 31,414,179	M973L	probably benign	Het
Olfr1109	C	T	2: 87,092,974	C141Y	probably damaging	Het
Olfr1477	A	T	19: 13,502,741	T133S	possibly damaging	Het
Plekha5	T	A	6: 140,525,916	M131K	probably benign	Het
Pomt1	T	A	2: 32,243,472	S207T	probably benign	Het
Prlr	T	A	15: 10,314,220	M1K	probably null	Het
Prr15	A	G	6: 54,329,505	K83E	probably damaging	Het
Rnf4	A	G	5: 34,346,779	N5S	probably benign	Het
Sel1l3	T	A	5: 53,200,143	H169L	probably benign	Het
Slc24a5	A	G	2: 125,068,903	I85V	probably benign	Het
Tmc2	T	C	2: 130,260,240	I775T	possibly damaging	Het
Trnau1ap	A	T	4: 132,319,562	F141L	probably benign	Het
Zscan4d	A	G	7: 11,164,994	C119R	probably damaging	Het
Zswim9	A	T	7: 13,260,321	V636D	possibly damaging	Het

Other mutations in Parp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Parp8	APN	13	116927323	missense	probably damaging	1.00
IGL01346:Parp8	APN	13	116895064	missense	possibly damaging	0.72
IGL01793:Parp8	APN	13	116910879	missense	probably damaging	1.00
IGL01958:Parp8	APN	13	116876572	missense	probably benign	0.14
IGL02131:Parp8	APN	13	116910873	missense	probably benign	0.08
IGL02398:Parp8	APN	13	116910863	critical splice donor site	probably null
IGL02496:Parp8	APN	13	116862302	splice site	probably benign
IGL03135:Parp8	APN	13	116910942	missense	probably benign	0.41
IGL03143:Parp8	APN	13	116910961	splice site	probably benign
IGL03201:Parp8	APN	13	116863069	splice site	probably benign
blondi	UTSW	13	116893041	missense	possibly damaging	0.77
Heidi	UTSW	13	116862204	splice site	probably null
R0362:Parp8	UTSW	13	116924968	nonsense	probably null
R0699:Parp8	UTSW	13	116922584	missense	probably benign	0.01
R1445:Parp8	UTSW	13	117025350	splice site	probably null
R1676:Parp8	UTSW	13	116877528	missense	probably damaging	0.99
R1977:Parp8	UTSW	13	116910913	missense	probably damaging	0.96
R2019:Parp8	UTSW	13	116868432	splice site	probably benign
R2049:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2142:Parp8	UTSW	13	116894886	missense	probably benign	0.20
R2474:Parp8	UTSW	13	116893041	missense	possibly damaging	0.77
R2566:Parp8	UTSW	13	116895687	missense	possibly damaging	0.78
R3863:Parp8	UTSW	13	116894767	missense	probably benign	0.01
R4126:Parp8	UTSW	13	116868469	missense	possibly damaging	0.94
R4518:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4519:Parp8	UTSW	13	116895673	missense	possibly damaging	0.62
R4767:Parp8	UTSW	13	116868536	missense	probably damaging	0.99
R5355:Parp8	UTSW	13	116862204	splice site	probably null
R5633:Parp8	UTSW	13	116876580	missense	probably damaging	1.00
R5942:Parp8	UTSW	13	116869433	missense	probably benign	0.12
R5978:Parp8	UTSW	13	116895732	missense	probably benign	0.01
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6039:Parp8	UTSW	13	116877598	missense	probably damaging	1.00
R6753:Parp8	UTSW	13	116895115	missense	possibly damaging	0.91
R7016:Parp8	UTSW	13	116895091	missense	probably damaging	1.00
R7139:Parp8	UTSW	13	117025266	missense	probably benign	0.21
R7305:Parp8	UTSW	13	116894925	missense	possibly damaging	0.95
R7314:Parp8	UTSW	13	116868460	missense	probably benign	0.01
R7360:Parp8	UTSW	13	116895771	missense	probably benign	0.02
R7526:Parp8	UTSW	13	116894805	missense	probably damaging	1.00
R8078:Parp8	UTSW	13	116924983	missense	probably damaging	1.00
R8108:Parp8	UTSW	13	116867073	nonsense	probably null
R8372:Parp8	UTSW	13	116855250	missense	probably damaging	1.00
R9005:Parp8	UTSW	13	116876590	missense	probably benign
R9072:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9073:Parp8	UTSW	13	116911415	missense	probably damaging	1.00
R9351:Parp8	UTSW	13	116864245	missense	probably damaging	0.99
R9441:Parp8	UTSW	13	116893026	missense	probably damaging	1.00
R9448:Parp8	UTSW	13	116902824	nonsense	probably null
R9470:Parp8	UTSW	13	116894756	missense	probably benign	0.02
R9562:Parp8	UTSW	13	116893095	missense	probably benign	0.16

Posted On

2014-05-07