Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00754:Stard6'

14263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stard6

Ensembl Gene

ENSMUSG00000079608

Gene Name

StAR related lipid transfer domain containing 6

Synonyms

4933429L05Rik, 1700011K09Rik, 4833424I06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL00754

Quality Score

Status

Chromosome

Chromosomal Location

70605525-70634137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70616559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 73 (S73T)

Ref Sequence

ENSEMBL: ENSMUSP00000134511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114959] [ENSMUST00000164223] [ENSMUST00000168249] [ENSMUST00000173951] [ENSMUST00000174118] [ENSMUST00000174667]

AlphaFold

P59096

Predicted Effect

probably benign
Transcript: ENSMUST00000114959
AA Change: S73T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
AA Change: S73T

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164223
AA Change: S73T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
AA Change: S73T

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168249
AA Change: S73T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
AA Change: S73T

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173951

SMART Domains

Protein: ENSMUSP00000134211
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
Blast:START	1	54	8e-18	BLAST
PDB:2MOU\|A	1	54	3e-17	PDB
SCOP:d1em2a_	1	54	2e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174118
AA Change: S73T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
AA Change: S73T

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174667

SMART Domains

Protein: ENSMUSP00000133956
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
Pfam:START	4	98	9.6e-12	PFAM

Coding Region Coverage

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 STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,848,040 (GRCm39)	G483R	probably damaging	Het
Ano1	T	C	7: 144,150,968 (GRCm39)	I816V	probably damaging	Het
Aprt	T	C	8: 123,302,232 (GRCm39)	Q77R	probably benign	Het
Bcas3	T	A	11: 85,386,649 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,641,036 (GRCm39)	M697V	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Chrnd	A	C	1: 87,123,506 (GRCm39)	E348A	probably benign	Het
Ctnnbl1	A	T	2: 157,661,461 (GRCm39)	S324C	possibly damaging	Het
Dgkb	C	A	12: 38,488,567 (GRCm39)	N644K	probably benign	Het
Dnajc13	A	T	9: 104,051,697 (GRCm39)	L1720*	probably null	Het
Ehbp1	A	G	11: 22,197,967 (GRCm39)		probably benign	Het
Eif1b	G	T	9: 120,323,686 (GRCm39)	C94F	probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Gm28042	G	A	2: 119,860,837 (GRCm39)	G96R	probably damaging	Het
Hcrtr1	A	G	4: 130,031,026 (GRCm39)	V86A	probably damaging	Het
Klrc3	A	T	6: 129,618,389 (GRCm39)	S131R	probably damaging	Het
Mboat4	A	G	8: 34,591,708 (GRCm39)	T382A	probably benign	Het
Oosp1	A	T	19: 11,645,069 (GRCm39)	H198Q	possibly damaging	Het
Parp14	T	C	16: 35,659,741 (GRCm39)	D1627G	probably benign	Het
Pdcd11	T	A	19: 47,092,221 (GRCm39)	F406I	possibly damaging	Het
Ppara	T	C	15: 85,661,843 (GRCm39)	L28S	probably damaging	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sf3b1	A	G	1: 55,026,645 (GRCm39)	F1255L	probably damaging	Het
Tnip2	T	C	5: 34,656,643 (GRCm39)	I221V	probably benign	Het
Ttn	A	G	2: 76,612,429 (GRCm39)	I8859T	possibly damaging	Het
Ube3b	T	C	5: 114,553,348 (GRCm39)	S907P	possibly damaging	Het
Utp25	G	T	1: 192,797,309 (GRCm39)	N514K	probably damaging	Het
Utrn	A	G	10: 12,539,236 (GRCm39)	V1927A	probably benign	Het
Zfp945	T	C	17: 23,070,931 (GRCm39)		probably benign	Het

Other mutations in Stard6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02403:Stard6	APN	18	70,629,183 (GRCm39)	critical splice acceptor site	probably null
IGL02934:Stard6	APN	18	70,629,175 (GRCm39)	splice site	probably benign
IGL03144:Stard6	APN	18	70,609,182 (GRCm39)	missense	possibly damaging	0.53
R0344:Stard6	UTSW	18	70,629,186 (GRCm39)	missense	probably damaging	1.00
R2850:Stard6	UTSW	18	70,616,522 (GRCm39)	missense	probably benign	0.20
R2896:Stard6	UTSW	18	70,609,459 (GRCm39)	missense	probably benign	0.02
R3236:Stard6	UTSW	18	70,633,557 (GRCm39)	missense	probably damaging	0.99
R4532:Stard6	UTSW	18	70,616,605 (GRCm39)	missense	probably damaging	1.00
R4959:Stard6	UTSW	18	70,631,631 (GRCm39)	missense	possibly damaging	0.92
R4973:Stard6	UTSW	18	70,631,631 (GRCm39)	missense	possibly damaging	0.92
R5080:Stard6	UTSW	18	70,629,293 (GRCm39)	missense	probably damaging	1.00
R6380:Stard6	UTSW	18	70,609,459 (GRCm39)	missense	probably benign	0.02
R7331:Stard6	UTSW	18	70,616,553 (GRCm39)	missense	probably damaging	1.00
R7396:Stard6	UTSW	18	70,633,506 (GRCm39)	missense	possibly damaging	0.95
R7399:Stard6	UTSW	18	70,631,718 (GRCm39)	splice site	probably null
R8002:Stard6	UTSW	18	70,633,597 (GRCm39)	missense	possibly damaging	0.68
R9512:Stard6	UTSW	18	70,633,601 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06