Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01063:Stard8'

53316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stard8

Ensembl Gene

ENSMUSG00000031216

Gene Name

START domain containing 8

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

99003248-99074728 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99073088 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 983 (R983L)

Ref Sequence

ENSEMBL: ENSMUSP00000044491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036606]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036606
AA Change: R983L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216
AA Change: R983L

Domain	Start	End	E-Value	Type
low complexity region	44	65	N/A	INTRINSIC
low complexity region	72	90	N/A	INTRINSIC
low complexity region	288	299	N/A	INTRINSIC
coiled coil region	334	372	N/A	INTRINSIC
low complexity region	396	417	N/A	INTRINSIC
low complexity region	457	464	N/A	INTRINSIC
RhoGAP	579	770	1.97e-56	SMART
START	814	1016	2.13e-69	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127361

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,078,646	L61*	probably null	Het
Abca7	T	C	10: 80,011,297	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,061,328	I393F	probably damaging	Het
Adamts5	A	G	16: 85,899,834	L145P	probably damaging	Het
Ano6	T	C	15: 95,948,429	I537T	probably damaging	Het
AU018091	T	C	7: 3,162,313	I190V	possibly damaging	Het
Camk1	T	A	6: 113,338,372	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,495	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,181,788	D537G	probably benign	Het
Col6a3	T	C	1: 90,802,332	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,372,181	E71D	probably benign	Het
Cps1	T	C	1: 67,195,166	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,904,210	F700I	probably damaging	Het
Dmp1	G	A	5: 104,207,099	M1I	probably null	Het
Efcab6	A	T	15: 84,054,512	M1K	probably null	Het
Extl2	A	T	3: 116,027,482	H312L	possibly damaging	Het
Fat4	C	A	3: 38,890,579	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518		probably benign	Het
Hdac10	G	T	15: 89,123,868	A593E	possibly damaging	Het
Hdhd2	T	C	18: 76,965,273		probably null	Het
Kcnq2	A	G	2: 181,109,789		probably benign	Het
Kdm7a	A	G	6: 39,165,130	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,943,630		probably benign	Het
Mki67	A	T	7: 135,694,922	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,266,326	F40I	probably damaging	Het
Olfr131	G	T	17: 38,082,653	S108R	possibly damaging	Het
Olfr213	T	A	6: 116,541,007	C185S	probably damaging	Het
Olfr476	A	T	7: 107,967,534	I46F	probably damaging	Het
Olfr986	A	T	9: 40,187,756	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,474,322	V322L	probably benign	Het
Ppfibp1	T	A	6: 147,029,697	M917K	probably benign	Het
Prkg2	C	T	5: 98,969,936		probably null	Het
Rfx4	A	G	10: 84,868,382	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,682,950	K292*	probably null	Het
Scamp3	C	A	3: 89,177,666		probably benign	Het
Scn4a	A	T	11: 106,330,364	I823N	possibly damaging	Het
Sdk2	A	G	11: 113,830,842	V1316A	probably damaging	Het
Setd2	T	C	9: 110,573,673	V1794A	probably damaging	Het
Tbc1d23	A	T	16: 57,192,675	D311E	probably benign	Het
Tex21	T	C	12: 76,198,818	H568R	probably benign	Het
Tex35	T	C	1: 157,105,097		probably benign	Het
Tgs1	T	A	4: 3,591,292	F442I	possibly damaging	Het
Traf2	C	A	2: 25,524,919	C303F	probably benign	Het
Trim56	A	T	5: 137,114,500	V54D	possibly damaging	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfp668	A	T	7: 127,866,282	C577S	probably damaging	Het

Other mutations in Stard8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Stard8	APN	X	99069335	missense	probably damaging	1.00
FR4304:Stard8	UTSW	X	99066505	unclassified	probably benign
FR4976:Stard8	UTSW	X	99066513	unclassified	probably benign
FR4976:Stard8	UTSW	X	99066525	unclassified	probably benign
R4198:Stard8	UTSW	X	99066508	unclassified	probably benign
R4641:Stard8	UTSW	X	99066508	unclassified	probably benign
R8246:Stard8	UTSW	X	99065964	missense	probably benign
R8247:Stard8	UTSW	X	99065964	missense	probably benign
RF002:Stard8	UTSW	X	99066515	nonsense	probably null
RF010:Stard8	UTSW	X	99066517	unclassified	probably benign
RF043:Stard8	UTSW	X	99066520	unclassified	probably benign
RF043:Stard8	UTSW	X	99066527	unclassified	probably benign
RF051:Stard8	UTSW	X	99066524	unclassified	probably benign
RF055:Stard8	UTSW	X	99066520	unclassified	probably benign
RF063:Stard8	UTSW	X	99066524	nonsense	probably null
RF064:Stard8	UTSW	X	99066527	nonsense	probably null
X0004:Stard8	UTSW	X	99066683	missense	possibly damaging	0.58

Posted On

2013-06-21