Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Stard5'

351044

Institutional Source

Beutler Lab

Gene Symbol

Stard5

Ensembl Gene

ENSMUSG00000046027

Gene Name

StAR related lipid transfer domain containing 5

Synonyms

18B7-T7(GS), D7Ertd152e, 2310058G22Rik

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83281225-83291536 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 83282489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075418] [ENSMUST00000117410]

AlphaFold

Q9EPQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000075418

SMART Domains

Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027

Domain	Start	End	E-Value	Type
START	7	210	8.57e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117410

SMART Domains

Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027

Domain	Start	End	E-Value	Type
Pfam:START	7	196	5.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208892

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	C	T	14: 103,292,781 (GRCm39)	T435M	probably benign	Het
Adgrf5	T	C	17: 43,763,331 (GRCm39)	F1078L	probably benign	Het
Adh6a	A	T	3: 138,030,708 (GRCm39)	N110I	probably damaging	Het
Aldh16a1	T	C	7: 44,798,212 (GRCm39)		probably benign	Het
Aopep	G	A	13: 63,446,565 (GRCm39)	E123K	probably damaging	Het
Arhgef17	A	G	7: 100,531,692 (GRCm39)	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,839,506 (GRCm39)	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,824,908 (GRCm39)	S28P	possibly damaging	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Cfb	T	A	17: 35,078,044 (GRCm39)	H962L	probably benign	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Clec16a	T	A	16: 10,462,747 (GRCm39)		probably null	Het
Cyp1a1	T	C	9: 57,609,039 (GRCm39)	S307P	probably benign	Het
Dsg3	T	C	18: 20,664,616 (GRCm39)	V538A	probably benign	Het
Erbb3	G	A	10: 128,408,639 (GRCm39)	Q815*	probably null	Het
Fam90a1a	C	A	8: 22,453,862 (GRCm39)	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,106,109 (GRCm39)	V585A	probably benign	Het
Gm8214	T	C	1: 183,414,094 (GRCm39)		noncoding transcript	Het
Gpld1	G	A	13: 25,168,799 (GRCm39)	G771D	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Gria2	A	T	3: 80,614,204 (GRCm39)	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,572,010 (GRCm39)	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,842,839 (GRCm39)	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,435,019 (GRCm39)	M1K	probably null	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Itpr1	A	G	6: 108,458,184 (GRCm39)	N1985D	probably damaging	Het
Jkampl	A	G	6: 73,446,252 (GRCm39)	V99A	probably benign	Het
Lama3	T	C	18: 12,637,454 (GRCm39)		probably null	Het
Lamc2	T	C	1: 153,041,915 (GRCm39)	Y73C	probably damaging	Het
Maff	A	G	15: 79,241,898 (GRCm39)	D105G	probably damaging	Het
Mep1a	C	T	17: 43,797,132 (GRCm39)	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrgbp	A	T	2: 180,227,107 (GRCm39)		silent	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Myo7b	T	C	18: 32,136,540 (GRCm39)		probably null	Het
Myo9a	T	C	9: 59,728,932 (GRCm39)	I596T	probably damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Or52e3	C	T	7: 102,869,629 (GRCm39)	R235*	probably null	Het
Pcsk5	T	G	19: 17,538,114 (GRCm39)	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,128,970 (GRCm39)	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,012,087 (GRCm39)	I337N	probably damaging	Het
Psmd3	T	C	11: 98,573,752 (GRCm39)	V66A	probably benign	Het
Ptger3	T	C	3: 157,272,931 (GRCm39)	S93P	probably damaging	Het
Rbm27	T	A	18: 42,434,840 (GRCm39)	D301E	probably damaging	Het
Rdh16	A	T	10: 127,637,382 (GRCm39)		probably null	Het
Slc35a5	A	T	16: 44,964,655 (GRCm39)	F193I	probably benign	Het
Slc4a4	A	G	5: 89,186,420 (GRCm39)	K167R	probably damaging	Het
Sort1	A	T	3: 108,262,857 (GRCm39)	T772S	possibly damaging	Het
Sptbn5	T	A	2: 119,879,238 (GRCm39)		noncoding transcript	Het
Tbc1d22a	A	G	15: 86,119,886 (GRCm39)	T61A	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Usp53	A	T	3: 122,752,769 (GRCm39)	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,990,135 (GRCm39)	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 41,661,862 (GRCm39)	I651T	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zfhx4	T	C	3: 5,478,127 (GRCm39)	S3556P	possibly damaging	Het

Other mutations in Stard5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Stard5	APN	7	83,282,397 (GRCm39)	missense	probably damaging	1.00
IGL02100:Stard5	APN	7	83,289,653 (GRCm39)	missense	possibly damaging	0.71
IGL03374:Stard5	APN	7	83,285,980 (GRCm39)	missense	possibly damaging	0.83
R0038:Stard5	UTSW	7	83,285,951 (GRCm39)	splice site	probably benign
R0038:Stard5	UTSW	7	83,285,951 (GRCm39)	splice site	probably benign
R0631:Stard5	UTSW	7	83,281,965 (GRCm39)	missense	probably damaging	1.00
R2170:Stard5	UTSW	7	83,282,366 (GRCm39)	missense	probably benign	0.01
R2995:Stard5	UTSW	7	83,281,951 (GRCm39)	missense	probably damaging	1.00
R5372:Stard5	UTSW	7	83,282,428 (GRCm39)	missense	probably damaging	1.00
R5628:Stard5	UTSW	7	83,282,355 (GRCm39)	missense	probably benign	0.30
R7836:Stard5	UTSW	7	83,285,984 (GRCm39)	missense	probably damaging	1.00
R9249:Stard5	UTSW	7	83,281,253 (GRCm39)	missense	probably damaging	0.97
R9574:Stard5	UTSW	7	83,281,944 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATCAAATTCCTCTCCATTCTAG -3'
(R):5'- TGGTGTAAATCCAGGCCTGC -3'

Sequencing Primer
(F):5'- TCTCCATTCTAGGTACCGAGGAG -3'
(R):5'- GCAATTCCTCAGCTATAGTCTGTAG -3'

Posted On

2015-10-08