Mutagenetix > Incidental Mutation

Incidental Mutation 'R0508:Stard3'

47740

Institutional Source

Beutler Lab

Gene Symbol

Stard3

Ensembl Gene

ENSMUSG00000018167

Gene Name

StAR related lipid transfer domain containing 3

Synonyms

es64, Mln64

MMRRC Submission

038703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0508 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

98249194-98271938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98263140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 65 (I65N)

Ref Sequence

ENSEMBL: ENSMUSP00000018311 (fasta)

Gene Model

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

AlphaFold

Q61542

Predicted Effect

probably damaging
Transcript: ENSMUST00000018311
AA Change: I65N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: I65N

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: ENSMUST00000148738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155063

Meta Mutation Damage Score

0.7266

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,211,162 (GRCm39)	L632P	probably damaging	Het
4833439L19Rik	A	G	13: 54,700,863 (GRCm39)		probably null	Het
Abca4	T	C	3: 121,917,200 (GRCm39)		probably benign	Het
Adamts10	G	T	17: 33,762,692 (GRCm39)	G557V	probably damaging	Het
Adgrg6	T	C	10: 14,326,360 (GRCm39)	H424R	probably benign	Het
Ano4	T	C	10: 88,816,839 (GRCm39)	Q623R	probably damaging	Het
Ap1g1	T	A	8: 110,564,364 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,702,222 (GRCm39)	S1092P	unknown	Het
Arhgap32	A	T	9: 32,101,364 (GRCm39)		probably benign	Het
Arhgap40	A	T	2: 158,388,670 (GRCm39)	S535C	probably damaging	Het
Atp9a	T	C	2: 168,491,446 (GRCm39)		probably null	Het
Bicral	A	T	17: 47,136,327 (GRCm39)	H294Q	possibly damaging	Het
Ccdc121rt3	T	C	5: 112,502,685 (GRCm39)	K340E	probably damaging	Het
Cdhr5	T	A	7: 140,852,812 (GRCm39)	H58L	probably benign	Het
Cenpt	T	C	8: 106,576,147 (GRCm39)	E100G	possibly damaging	Het
Cep97	A	G	16: 55,750,969 (GRCm39)	S16P	probably benign	Het
Clec2i	T	A	6: 128,870,663 (GRCm39)	V67D	probably damaging	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Coq6	G	T	12: 84,414,913 (GRCm39)		probably benign	Het
Cyp1a1	A	G	9: 57,607,588 (GRCm39)	Q72R	probably benign	Het
Ep400	A	G	5: 110,887,374 (GRCm39)	S570P	probably benign	Het
Erbin	T	C	13: 103,970,535 (GRCm39)	N1027S	probably damaging	Het
Exog	T	A	9: 119,277,444 (GRCm39)		probably benign	Het
Fahd1	A	C	17: 25,068,975 (GRCm39)	V34G	probably benign	Het
Fetub	C	T	16: 22,748,045 (GRCm39)	R74W	probably benign	Het
Fhip2a	T	A	19: 57,367,174 (GRCm39)	L239Q	probably benign	Het
Frmpd1	G	A	4: 45,284,938 (GRCm39)	G1253D	unknown	Het
Galnt12	A	G	4: 47,104,255 (GRCm39)	D171G	probably damaging	Het
Gm973	G	T	1: 59,621,649 (GRCm39)		probably benign	Het
Hdlbp	C	A	1: 93,342,533 (GRCm39)		probably null	Het
Il1rl1	T	A	1: 40,490,877 (GRCm39)	I386N	possibly damaging	Het
Itgav	T	C	2: 83,623,002 (GRCm39)		probably benign	Het
Magoh	A	C	4: 107,742,195 (GRCm39)	K114Q	possibly damaging	Het
Mdfic2	T	C	6: 98,215,005 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,302,075 (GRCm39)	D986E	probably benign	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Nckap5	T	C	1: 125,909,121 (GRCm39)		probably null	Het
Neu1	A	G	17: 35,151,760 (GRCm39)	I185V	probably benign	Het
Nkiras1	T	A	14: 18,278,524 (GRCm38)	D79E	probably damaging	Het
Nkx3-1	A	G	14: 69,428,350 (GRCm39)	E66G	probably benign	Het
Or51a5	A	T	7: 102,771,193 (GRCm39)	I262N	possibly damaging	Het
Osbpl11	T	A	16: 33,016,465 (GRCm39)	N73K	probably benign	Het
Otulin	C	T	15: 27,608,944 (GRCm39)	V2I	possibly damaging	Het
Pdss2	CGGAG	CG	10: 43,097,927 (GRCm39)		probably benign	Het
Pld2	T	C	11: 70,443,368 (GRCm39)	M421T	probably damaging	Het
Rgs11	A	G	17: 26,426,443 (GRCm39)		probably benign	Het
Rrad	A	T	8: 105,356,500 (GRCm39)	D133E	possibly damaging	Het
Scaf11	A	G	15: 96,318,368 (GRCm39)	S399P	probably damaging	Het
Sccpdh	A	G	1: 179,508,080 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,548,186 (GRCm39)	E1126G	probably damaging	Het
Selenop	T	G	15: 3,305,202 (GRCm39)	D119E	probably benign	Het
Serpinb3c	T	A	1: 107,204,651 (GRCm39)	S32C	probably damaging	Het
Serpine1	C	A	5: 137,093,770 (GRCm39)	K315N	probably benign	Het
Slc27a1	T	C	8: 72,032,872 (GRCm39)		probably benign	Het
Slc4a8	G	A	15: 100,686,973 (GRCm39)	R259Q	probably benign	Het
Smtnl2	C	T	11: 72,293,962 (GRCm39)	R198Q	probably damaging	Het
Spta1	A	C	1: 174,052,023 (GRCm39)	Y1819S	probably damaging	Het
Tfrc	T	C	16: 32,448,997 (GRCm39)	L712P	probably damaging	Het
Tmem201	G	A	4: 149,816,343 (GRCm39)	R62C	probably damaging	Het
Trim5	A	T	7: 103,914,811 (GRCm39)	F410L	probably null	Het
Txndc2	T	A	17: 65,944,948 (GRCm39)	I410F	probably benign	Het
Urb1	C	T	16: 90,580,150 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,392 (GRCm39)	F115L	probably benign	Het
Vnn1	T	C	10: 23,770,910 (GRCm39)	V46A	probably benign	Het
Xrn1	T	A	9: 95,933,789 (GRCm39)	S1615R	probably benign	Het
Zfand4	T	A	6: 116,262,828 (GRCm39)	C118S	probably damaging	Het
Zfp952	G	A	17: 33,221,979 (GRCm39)	E115K	possibly damaging	Het
Zfpm1	T	C	8: 123,061,872 (GRCm39)	F368L	probably damaging	Het

Other mutations in Stard3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Stard3	APN	11	98,268,285 (GRCm39)	missense	probably damaging	0.99
IGL00498:Stard3	APN	11	98,267,356 (GRCm39)	missense	possibly damaging	0.90
IGL01652:Stard3	APN	11	98,269,559 (GRCm39)	splice site	probably benign
IGL02553:Stard3	APN	11	98,267,389 (GRCm39)	missense	possibly damaging	0.55
IGL03160:Stard3	APN	11	98,269,737 (GRCm39)	missense	probably damaging	1.00
R1619:Stard3	UTSW	11	98,267,435 (GRCm39)	critical splice donor site	probably null
R4781:Stard3	UTSW	11	98,263,160 (GRCm39)	missense	possibly damaging	0.91
R5889:Stard3	UTSW	11	98,266,361 (GRCm39)	missense	probably benign	0.13
R6117:Stard3	UTSW	11	98,263,088 (GRCm39)	missense	probably damaging	1.00
R6406:Stard3	UTSW	11	98,269,595 (GRCm39)	missense	probably benign	0.06
R7290:Stard3	UTSW	11	98,269,045 (GRCm39)	critical splice donor site	probably null
R7719:Stard3	UTSW	11	98,266,502 (GRCm39)	missense	probably benign	0.05
R9275:Stard3	UTSW	11	98,262,931 (GRCm39)	start gained	probably benign
R9278:Stard3	UTSW	11	98,262,931 (GRCm39)	start gained	probably benign
R9563:Stard3	UTSW	11	98,270,797 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAGCAAGCGACCTGGTGATCTG -3'
(R):5'- CAACCAAGAACTGAAGTTTTGCCCC -3'

Sequencing Primer
(F):5'- ACCTGGTGATCTGGCCTG -3'
(R):5'- ctgggacacagaagggc -3'

Posted On

2013-06-12