Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Parp8'

410798

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 #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 116910961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153188 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226107

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,909,267	L236R	probably damaging	Het
Agbl1	C	T	7: 76,420,045	Q442*	probably null	Het
Ahrr	G	A	13: 74,257,495	Q108*	probably null	Het
Ankrd23	T	C	1: 36,531,645		probably benign	Het
Art5	A	G	7: 102,097,897	I225T	probably damaging	Het
Asxl3	T	C	18: 22,522,974	V1347A	probably benign	Het
Birc6	A	G	17: 74,598,999	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,902,735	N32T	probably damaging	Het
Brip1	T	A	11: 86,061,827	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,213,105	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,136,058	M396L	probably benign	Het
Ceacam3	G	T	7: 17,158,120	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,302,003	T157A	probably benign	Het
Derl3	T	C	10: 75,894,490	V129A	possibly damaging	Het
Dnajb1	T	C	8: 83,608,474	I48T	probably damaging	Het
Dopey2	G	A	16: 93,759,655	E349K	probably benign	Het
E330009J07Rik	A	T	6: 40,422,894		probably benign	Het
Fkbp10	A	T	11: 100,422,754	I285F	probably benign	Het
Frrs1	A	T	3: 116,899,187	T37S	probably damaging	Het
Gata2	A	G	6: 88,204,695	Y377C	probably damaging	Het
Gm9789	T	A	16: 89,157,995		probably benign	Het
Itpkb	T	A	1: 180,333,368	V353D	probably benign	Het
Kcng4	T	C	8: 119,625,770	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,596,861	I906N	probably damaging	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,332,274	L89Q	probably benign	Het
Lef1	G	T	3: 131,200,316	E314*	probably null	Het
Lpin3	T	C	2: 160,903,598		probably benign	Het
Mkl2	A	G	16: 13,400,812	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,114,866	T628I	possibly damaging	Het
Nell1	C	T	7: 50,279,533	Q259*	probably null	Het
Neu2	G	T	1: 87,596,976	E228*	probably null	Het
Olfr1051	T	C	2: 86,276,236	N84D	probably benign	Het
Olfr1475	A	T	19: 13,479,471	H242Q	probably damaging	Het
Olfr178	A	G	16: 58,889,461	F253S	probably damaging	Het
Olfr935	T	G	9: 38,995,436		probably benign	Het
Osbpl6	T	A	2: 76,548,372	D124E	probably damaging	Het
Palm	T	C	10: 79,816,783		probably benign	Het
Pax7	A	G	4: 139,829,487		probably benign	Het
Pcnx3	G	A	19: 5,685,395	R468W	probably damaging	Het
Pds5b	T	A	5: 150,779,257	V818D	probably damaging	Het
Piezo2	C	T	18: 63,108,076	V694I	probably damaging	Het
Plk1	A	G	7: 122,161,654		probably benign	Het
Polb	T	C	8: 22,640,351		probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Reg3b	G	A	6: 78,372,200	W103*	probably null	Het
Slc17a3	T	G	13: 23,855,979		probably null	Het
Snrnp200	C	T	2: 127,230,042		probably benign	Het
Stox2	T	A	8: 47,193,804	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,352,198	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,898,811	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,116,927		probably benign	Het
Trank1	A	G	9: 111,366,087	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,774,445	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,383,129	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	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
IGL01926:Parp8	APN	13	116862302	splice site	probably benign
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
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

2016-08-02