Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00498:Stard3'

14262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stard3

Ensembl Gene

ENSMUSG00000018167

Gene Name

START domain containing 3

Synonyms

es64, Mln64

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00498

Quality Score

Status

Chromosome

Chromosomal Location

98358368-98381112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98376530 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 158 (V158D)

Ref Sequence

ENSEMBL: ENSMUSP00000018311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018311]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018311
AA Change: V158D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: V158D

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Pfam:MENTAL	48	214	1.1e-65	PFAM
START	240	445	4.43e-67	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155063

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 lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a truncated allele are viable and fertile and display mild defects in cholesterol metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	A	2: 68,601,898	G128R	unknown	Het
Acsm5	T	C	7: 119,542,438		probably null	Het
Atad2	A	C	15: 58,116,820	F423V	probably damaging	Het
Carmil3	T	A	14: 55,501,895		probably null	Het
Cdc42bpa	A	C	1: 180,106,121	E775A	probably damaging	Het
Cfdp1	T	C	8: 111,840,478	E133G	probably benign	Het
Chst3	A	G	10: 60,185,619	F469L	possibly damaging	Het
Dbx1	T	C	7: 49,636,474	D81G	probably benign	Het
Dmp1	A	G	5: 104,210,155		probably benign	Het
Dnah8	A	G	17: 30,677,176	T855A	probably benign	Het
Fbxw2	C	T	2: 34,805,941	A250T	probably damaging	Het
Fcgbp	T	C	7: 28,091,797	C828R	probably damaging	Het
Gmfg	G	T	7: 28,446,385	R83L	possibly damaging	Het
Gpr37l1	A	G	1: 135,161,702		probably benign	Het
Hcfc1r1	G	A	17: 23,674,008	R9Q	probably damaging	Het
Hsd17b1	A	T	11: 101,080,058	H280L	possibly damaging	Het
Hsd17b12	A	C	2: 94,083,165		probably null	Het
Itga1	A	G	13: 115,031,193	V99A	probably benign	Het
Kcnn1	A	G	8: 70,852,880	S229P	probably damaging	Het
Klhdc8a	A	G	1: 132,303,018	N207S	probably benign	Het
Lrrtm4	T	C	6: 80,022,546	W314R	probably damaging	Het
Malrd1	T	C	2: 16,142,186		probably benign	Het
Marcks	T	C	10: 37,138,517	K7E	probably damaging	Het
Mov10	A	G	3: 104,800,947		probably benign	Het
Pclo	A	T	5: 14,540,739	T1018S	unknown	Het
Sdk1	T	C	5: 142,085,606	Y1184H	probably damaging	Het
Slc6a18	A	T	13: 73,671,719	M244K	possibly damaging	Het
Snx19	C	T	9: 30,428,937	T457I	possibly damaging	Het
Tnks	G	T	8: 34,861,689		probably benign	Het
Ugt2b34	A	G	5: 86,901,225	S314P	probably damaging	Het
Usp15	G	A	10: 123,113,596	S952L	probably benign	Het
Utp11	A	G	4: 124,679,739	V214A	possibly damaging	Het

Other mutations in Stard3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Stard3	APN	11	98377459	missense	probably damaging	0.99
IGL01652:Stard3	APN	11	98378733	splice site	probably benign
IGL02553:Stard3	APN	11	98376563	missense	possibly damaging	0.55
IGL03160:Stard3	APN	11	98378911	missense	probably damaging	1.00
R0508:Stard3	UTSW	11	98372314	missense	probably damaging	0.99
R1619:Stard3	UTSW	11	98376609	critical splice donor site	probably null
R4781:Stard3	UTSW	11	98372334	missense	possibly damaging	0.91
R5889:Stard3	UTSW	11	98375535	missense	probably benign	0.13
R6117:Stard3	UTSW	11	98372262	missense	probably damaging	1.00
R6406:Stard3	UTSW	11	98378769	missense	probably benign	0.06
R7290:Stard3	UTSW	11	98378219	critical splice donor site	probably null
R7719:Stard3	UTSW	11	98375676	missense	probably benign	0.05

Posted On

2012-12-06