Mutagenetix > Incidental Mutation

Incidental Mutation 'R2896:Stard6'

260808

Institutional Source

Beutler Lab

Gene Symbol

Stard6

Ensembl Gene

ENSMUSG00000079608

Gene Name

StAR related lipid transfer domain containing 6

Synonyms

4933429L05Rik, 1700011K09Rik, 4833424I06Rik

MMRRC Submission

040484-MU

Accession Numbers

Essential gene?

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

Stock #

R2896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70605525-70634137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70609459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 33 (V33I)

Ref Sequence

ENSEMBL: ENSMUSP00000134511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067556] [ENSMUST00000114959] [ENSMUST00000164223] [ENSMUST00000168249] [ENSMUST00000173951] [ENSMUST00000174118] [ENSMUST00000174667] [ENSMUST00000212539] [ENSMUST00000212683]

AlphaFold

P59096

Predicted Effect

probably benign
Transcript: ENSMUST00000067556

SMART Domains

Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
Pfam:LAS2	161	235	2.8e-26	PFAM
Pfam:LAS2	325	387	9.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114959
AA Change: V33I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
AA Change: V33I

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: V33I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
AA Change: V33I

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: V33I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
AA Change: V33I

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
AA Change: V33I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134211
Gene: ENSMUSG00000079608
AA Change: V33I

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: V33I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
AA Change: V33I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212539

Predicted Effect

probably benign
Transcript: ENSMUST00000212683

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (30/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	C	T	9: 106,327,313 (GRCm39)	R32C	probably benign	Het
Bpifb4	T	G	2: 153,796,357 (GRCm39)		probably benign	Het
Cachd1	T	A	4: 100,828,100 (GRCm39)	L616Q	probably damaging	Het
Cmklr2	T	A	1: 63,222,321 (GRCm39)	I305L	probably benign	Het
Crebbp	A	G	16: 3,956,680 (GRCm39)	L381P	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Esp6	T	A	17: 40,873,834 (GRCm39)	M7K	possibly damaging	Het
Fam83d	G	A	2: 158,627,898 (GRCm39)	R529Q	probably damaging	Het
Gm26526	T	G	7: 39,238,437 (GRCm39)		noncoding transcript	Het
Gm8374	T	A	14: 18,537,084 (GRCm39)	R47*	probably null	Het
Gss	A	G	2: 155,406,749 (GRCm39)	L342P	probably damaging	Het
Ighv1-67	T	A	12: 115,567,595 (GRCm39)	T106S	probably damaging	Het
Kif21b	T	C	1: 136,081,955 (GRCm39)	Y668H	possibly damaging	Het
Lcmt1	A	G	7: 123,020,809 (GRCm39)	R245G	possibly damaging	Het
Lpar6	A	G	14: 73,476,716 (GRCm39)	K226E	probably damaging	Het
Or11h23	T	C	14: 50,947,973 (GRCm39)	F62S	probably damaging	Het
Pcdh19	TGTCTCCTCCACGTC	TGTC	X: 132,582,058 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,245,702 (GRCm39)	D100E	possibly damaging	Het
Phkg1	C	A	5: 129,893,471 (GRCm39)	K326N	possibly damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Prss1	G	A	6: 41,440,639 (GRCm39)	W238*	probably null	Het
Rdh10	A	T	1: 16,176,329 (GRCm39)		probably null	Het
Ror1	T	C	4: 99,953,477 (GRCm39)	L21P	unknown	Het
Skint8	A	G	4: 111,807,333 (GRCm39)	I340V	probably null	Het
Spata18	T	C	5: 73,815,145 (GRCm39)	S85P	probably damaging	Het
Ttll3	G	T	6: 113,369,683 (GRCm39)	A76S	probably benign	Het
Ttll4	T	A	1: 74,724,517 (GRCm39)	H562Q	possibly damaging	Het
Ubn1	A	G	16: 4,873,083 (GRCm39)	H35R	possibly damaging	Het
Ubr4	A	G	4: 139,182,955 (GRCm39)		probably null	Het
Zfp456	T	C	13: 67,515,416 (GRCm39)	R97G	possibly damaging	Het

Other mutations in Stard6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Stard6	APN	18	70,616,559 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GACCTATCTGGCTGGAAACTC -3'
(R):5'- AGCACGTGATCTCACACATC -3'

Sequencing Primer
(F):5'- GGCTGGAAACTCATTAAATCTTCAG -3'
(R):5'- AGCACGTGATCTCACACATCATTTC -3'

Posted On

2015-01-23