Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02131:Parp8'

281190

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 #

IGL02131

Quality Score

Status

Chromosome

Chromosomal Location

116854820-117025537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116910873 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 221 (N221S)

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
AA Change: N260S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022239
Gene: ENSMUSG00000021725
AA Change: N260S

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
AA Change: N221S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225344

Predicted Effect

probably benign
Transcript: ENSMUST00000226107
AA Change: N221S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	A	17: 79,627,655		probably benign	Het
Adamts19	A	G	18: 59,052,660	Y1202C	probably damaging	Het
Adgrf1	T	A	17: 43,303,747	F241I	probably damaging	Het
Ankrd11	A	T	8: 122,894,410	I901N	probably damaging	Het
Anxa8	A	T	14: 34,090,631	D46V	possibly damaging	Het
Ap4e1	A	G	2: 127,061,929	Y917C	probably benign	Het
Arhgap40	G	A	2: 158,531,939		probably null	Het
Dnah17	A	G	11: 118,072,908	V2513A	probably damaging	Het
Dnhd1	T	C	7: 105,720,802	L4478P	probably damaging	Het
Dtx3	T	C	10: 127,193,279	D30G	probably damaging	Het
Fat2	A	G	11: 55,309,042	Y1069H	probably damaging	Het
Fbxo21	T	A	5: 118,002,090	N538K	possibly damaging	Het
Frem1	T	C	4: 82,924,854	T1748A	probably benign	Het
Kcnh6	T	C	11: 106,020,175	Y466H	probably damaging	Het
Kif2c	G	A	4: 117,177,953	S41L	possibly damaging	Het
Kir3dl2	T	A	X: 136,457,713	H52L	possibly damaging	Het
Mageb18	A	G	X: 92,120,049	C196R	possibly damaging	Het
Mrpl9	T	A	3: 94,444,713		probably null	Het
Nt5c1b	A	G	12: 10,375,491	I345V	possibly damaging	Het
Olfr137	T	A	17: 38,304,648	H271L	probably benign	Het
Olfr251	A	G	9: 38,377,907	T9A	probably benign	Het
Olfr517	T	C	7: 108,868,208	*315W	probably null	Het
Plbd1	T	C	6: 136,661,683		probably benign	Het
Recql5	C	A	11: 115,923,242	W86L	probably benign	Het
Rgs6	T	C	12: 83,069,495	S232P	probably damaging	Het
Rnf182	A	G	13: 43,668,342	H123R	probably benign	Het
Rtf2	A	G	2: 172,466,292	T204A	unknown	Het
Sema4d	T	C	13: 51,702,937		probably null	Het
Sept8	T	C	11: 53,537,857	S408P	possibly damaging	Het
Serpini1	A	G	3: 75,640,704	N396D	probably benign	Het
Slc26a2	A	C	18: 61,198,812	F516V	possibly damaging	Het
Tcf4	A	G	18: 69,564,626		probably benign	Het
Trrap	G	T	5: 144,840,436	G3045W	probably damaging	Het
Tspo2	T	A	17: 48,449,061	T91S	possibly damaging	Het
Ttn	T	C	2: 76,737,614	D27645G	probably damaging	Het
Uba6	G	T	5: 86,150,077	T246K	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Wwp2	T	A	8: 107,552,318	M136K	probably damaging	Het
Zranb3	A	T	1: 127,992,951	V412D	probably 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
IGL01926:Parp8	APN	13	116862302	splice site	probably benign
IGL01958:Parp8	APN	13	116876572	missense	probably benign	0.14
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

2015-04-16