Mutagenetix > Incidental Mutation

Incidental Mutation 'R0462:Stard4'

41442

Institutional Source

Beutler Lab

Gene Symbol

Stard4

Ensembl Gene

ENSMUSG00000024378

Gene Name

StAR related lipid transfer domain containing 4

Synonyms

9030213J02Rik, 4632419C16Rik

MMRRC Submission

038662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0462 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

33332408-33346915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33338202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 116 (R116H)

Ref Sequence

ENSEMBL: ENSMUSP00000025236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025236] [ENSMUST00000118990] [ENSMUST00000119991]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025236
AA Change: R116H

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

SMART Domains

Protein: ENSMUSP00000025236
Gene: ENSMUSG00000024378
AA Change: R116H

Domain	Start	End	E-Value	Type
START	25	224	1.43e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118990

SMART Domains

Protein: ENSMUSP00000114131
Gene: ENSMUSG00000024378

Domain	Start	End	E-Value	Type
PDB:1JSS\|B	1	110	5e-78	PDB
SCOP:d1jssa_	24	110	3e-17	SMART
Blast:START	25	110	4e-58	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000119991

SMART Domains

Protein: ENSMUSP00000114109
Gene: ENSMUSG00000024378

Domain	Start	End	E-Value	Type
PDB:1JSS\|B	1	110	1e-76	PDB
SCOP:d1jssa_	24	110	8e-17	SMART
Blast:START	25	110	8e-57	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141617

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased liver weight, body weight, and body length. Female mice homozygous for this allele exhibit decreased circulating cholesterol when fed a low cholesterol diet and altered bile composition when fed standard chow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	T	11: 101,304,917 (GRCm39)	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084 (GRCm39)		probably null	Het
Acot10	T	G	15: 20,666,712 (GRCm39)	T10P	possibly damaging	Het
Aldh7a1	T	C	18: 56,667,286 (GRCm39)		probably null	Het
Alkbh7	G	A	17: 57,305,443 (GRCm39)	V87I	probably benign	Het
Ano2	A	T	6: 125,689,238 (GRCm39)	H121L	probably benign	Het
Apob	A	T	12: 8,050,896 (GRCm39)	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,436,942 (GRCm39)	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,991,973 (GRCm39)	T191S	possibly damaging	Het
Atpsckmt	T	C	15: 31,617,018 (GRCm39)	M161T	probably damaging	Het
Btbd9	A	T	17: 30,749,191 (GRCm39)	V41D	possibly damaging	Het
Bzw2	G	A	12: 36,174,023 (GRCm39)	R25C	probably damaging	Het
Carmil1	T	C	13: 24,206,494 (GRCm39)	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,971 (GRCm39)	R226G	probably damaging	Het
Cdh3	A	G	8: 107,282,012 (GRCm39)	N800S	possibly damaging	Het
Cep152	A	T	2: 125,425,854 (GRCm39)	V837E	possibly damaging	Het
Cep85	G	A	4: 133,858,732 (GRCm39)	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821 (GRCm39)	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,022,535 (GRCm39)	E104G	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cmah	T	A	13: 24,620,724 (GRCm39)	S319R	possibly damaging	Het
Cnbd1	A	G	4: 18,895,044 (GRCm39)	F233L	probably benign	Het
Cpne5	T	C	17: 29,395,163 (GRCm39)	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,169,373 (GRCm39)	P485L	probably damaging	Het
Dimt1	T	C	13: 107,085,264 (GRCm39)	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,614,024 (GRCm39)	*383W	probably null	Het
Dnah2	G	A	11: 69,350,027 (GRCm39)	R2369C	probably damaging	Het
Dock2	A	G	11: 34,218,052 (GRCm39)	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,223,806 (GRCm39)	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,325,645 (GRCm39)	I720T	probably benign	Het
Eps8	A	T	6: 137,491,309 (GRCm39)	D356E	probably benign	Het
Exoc1	A	G	5: 76,691,464 (GRCm39)	N263D	probably benign	Het
Fbxl3	T	C	14: 103,320,322 (GRCm39)	D375G	probably damaging	Het
Fcgbpl1	A	T	7: 27,836,765 (GRCm39)	D228V	probably damaging	Het
Flg2	A	T	3: 93,108,744 (GRCm39)	E257D	probably benign	Het
Fstl4	A	G	11: 53,077,229 (GRCm39)	D662G	probably benign	Het
Gbp10	G	T	5: 105,366,390 (GRCm39)	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,060,305 (GRCm39)	P15S	probably damaging	Het
Grhl2	A	G	15: 37,344,919 (GRCm39)	M514V	probably benign	Het
Hgs	A	G	11: 120,369,970 (GRCm39)	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,280,594 (GRCm39)	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,379,561 (GRCm39)	D623G	probably damaging	Het
Kifbp	A	T	10: 62,395,235 (GRCm39)	I469N	probably damaging	Het
Matk	G	T	10: 81,095,527 (GRCm39)	V116F	probably damaging	Het
Mcm3	T	C	1: 20,875,556 (GRCm39)	T694A	probably benign	Het
Mctp1	C	A	13: 76,949,520 (GRCm39)	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743 (GRCm39)	I313K	probably benign	Het
Muc4	T	A	16: 32,582,910 (GRCm39)	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,358,240 (GRCm39)	I999F	probably damaging	Het
Or11h4	T	A	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or14j7	A	T	17: 38,234,667 (GRCm39)	D70V	probably damaging	Het
Or1x6	A	G	11: 50,939,336 (GRCm39)	Y134C	probably damaging	Het
Or52a5	A	T	7: 103,426,770 (GRCm39)	S261T	probably benign	Het
Or7g12	A	T	9: 18,900,198 (GRCm39)	I305F	probably benign	Het
Or8g52	T	A	9: 39,630,706 (GRCm39)	F61Y	probably benign	Het
Pafah1b1	A	G	11: 74,568,541 (GRCm39)	V396A	probably benign	Het
Pard6b	T	A	2: 167,929,467 (GRCm39)	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,246 (GRCm39)	S133G	probably damaging	Het
Plcg2	T	G	8: 118,312,044 (GRCm39)	S445R	probably benign	Het
Plekhd1	G	T	12: 80,768,352 (GRCm39)	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,843,518 (GRCm39)	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,359,468 (GRCm39)		probably null	Het
Prr22	A	G	17: 57,077,551 (GRCm39)		probably benign	Het
Psme4	A	G	11: 30,798,117 (GRCm39)	D1370G	probably damaging	Het
Rac3	T	A	11: 120,613,684 (GRCm39)	V86D	probably damaging	Het
Rnf207	T	C	4: 152,397,829 (GRCm39)	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,037,063 (GRCm39)	L103P	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,670,827 (GRCm39)	C17F	probably benign	Het
Spaca7b	T	A	8: 11,711,749 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,973,429 (GRCm39)	F921I	probably benign	Het
Spen	A	T	4: 141,200,962 (GRCm39)	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,723,424 (GRCm39)	T564K	probably damaging	Het
Supt7l	A	T	5: 31,677,640 (GRCm39)	S175R	probably damaging	Het
Sycp1	A	T	3: 102,726,422 (GRCm39)	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,688,141 (GRCm39)	M251V	probably benign	Het
Tbx15	A	T	3: 99,223,634 (GRCm39)	E274V	probably damaging	Het
Tex52	A	G	6: 128,361,917 (GRCm39)	E298G	probably benign	Het
Tmem101	T	C	11: 102,046,693 (GRCm39)	M59V	probably benign	Het
Tmem132b	T	C	5: 125,862,990 (GRCm39)	V665A	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Ush2a	A	G	1: 188,643,136 (GRCm39)	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,810,431 (GRCm39)	V406L	probably benign	Het
Vrk3	A	G	7: 44,413,624 (GRCm39)	D166G	possibly damaging	Het
Washc4	T	A	10: 83,392,777 (GRCm39)	M259K	probably benign	Het
Wdr70	T	C	15: 8,108,645 (GRCm39)	D167G	probably benign	Het
Zfp1005	A	G	2: 150,111,122 (GRCm39)	E604G	possibly damaging	Het
Zfp28	A	T	7: 6,395,239 (GRCm39)	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,781,232 (GRCm39)	I510T	probably benign	Het
Zfp710	T	A	7: 79,740,089 (GRCm39)	*646R	probably null	Het
Zfp90	C	T	8: 107,151,892 (GRCm39)	S535L	possibly damaging	Het
Zfp949	C	T	9: 88,450,787 (GRCm39)	T119I	possibly damaging	Het

Other mutations in Stard4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1396:Stard4	UTSW	18	33,339,263 (GRCm39)	missense	probably damaging	0.99
R1577:Stard4	UTSW	18	33,338,151 (GRCm39)	missense	probably damaging	1.00
R5308:Stard4	UTSW	18	33,336,678 (GRCm39)	missense	probably damaging	1.00
R5481:Stard4	UTSW	18	33,338,298 (GRCm39)	missense	probably benign	0.03
R6161:Stard4	UTSW	18	33,342,109 (GRCm39)	missense	probably damaging	0.99
R6393:Stard4	UTSW	18	33,338,278 (GRCm39)	missense	probably benign	0.00
R7062:Stard4	UTSW	18	33,338,587 (GRCm39)	splice site	probably null
R7478:Stard4	UTSW	18	33,338,377 (GRCm39)	missense	unknown
R8805:Stard4	UTSW	18	33,336,749 (GRCm39)	missense	possibly damaging	0.93
X0065:Stard4	UTSW	18	33,342,125 (GRCm39)	missense	probably damaging	0.98
Z1088:Stard4	UTSW	18	33,336,773 (GRCm39)	missense	probably benign	0.00
Z1088:Stard4	UTSW	18	33,336,770 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCTTATCCAGAAAGACCCAGGGTAAA -3'
(R):5'- AGGTAAATGGAGGCTTAGATGCTGACT -3'

Sequencing Primer
(F):5'- AGACCCAGGGTAAACTTTAAGTATC -3'
(R):5'- CACAGTATCACAGACATTTGGG -3'

Posted On

2013-05-23