Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Star'

672004

Institutional Source

Beutler Lab

Gene Symbol

Star

Ensembl Gene

ENSMUSG00000031574

Gene Name

steroidogenic acute regulatory protein

Synonyms

D8Ertd419e

MMRRC Submission

068642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26298502-26306010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26299577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 53 (R53H)

Ref Sequence

ENSEMBL: ENSMUSP00000033979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033979] [ENSMUST00000210565]

AlphaFold

P51557

Predicted Effect

probably benign
Transcript: ENSMUST00000033979
AA Change: R53H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000033979
Gene: ENSMUSG00000031574
AA Change: R53H

Domain	Start	End	E-Value	Type
START	75	280	3.63e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210565
AA Change: R53H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice fail to thrive and die during the postnatal period due to adrenocortical insufficiency. Mice exhibit male pseudohermaprhoditism and show a progressive accumulation of lipids within steroidogenic cells of the adrenal glands and gonads. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,226,737 (GRCm39)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,313,285 (GRCm39)		probably benign	Het
Actl6b	G	A	5: 137,552,918 (GRCm39)	M82I	probably benign	Het
Bmp2	T	A	2: 133,403,254 (GRCm39)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,415,298 (GRCm39)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,601,712 (GRCm39)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,733,576 (GRCm39)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,211,979 (GRCm39)	A1669T	unknown	Het
Cfap58	A	T	19: 47,941,535 (GRCm39)	E301V	probably damaging	Het
Clcn2	C	A	16: 20,532,168 (GRCm39)	G96C	probably damaging	Het
Cotl1	T	A	8: 120,536,944 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,216,110 (GRCm39)	A812T	probably damaging	Het
Cracd	T	C	5: 77,006,489 (GRCm39)	V950A	unknown	Het
Crnkl1	T	C	2: 145,773,350 (GRCm39)		probably null	Het
Cry1	A	G	10: 84,992,969 (GRCm39)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,540,530 (GRCm39)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,327,462 (GRCm39)	F425L	probably damaging	Het
Dek	A	T	13: 47,252,930 (GRCm39)	N158K	unknown	Het
Dgcr8	T	A	16: 18,076,161 (GRCm39)	Q674L	probably damaging	Het
Dlec1	C	A	9: 118,941,650 (GRCm39)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,273,305 (GRCm39)	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,361,963 (GRCm39)	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,862,227 (GRCm39)	L186M		Het
Fn1	T	C	1: 71,644,239 (GRCm39)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,813,453 (GRCm39)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,681,042 (GRCm39)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,116,657 (GRCm39)	D131G		Het
Gpatch8	T	C	11: 102,371,018 (GRCm39)	E840G	unknown	Het
Grm5	G	A	7: 87,453,176 (GRCm39)	R271Q	probably damaging	Het
Has3	A	T	8: 107,601,135 (GRCm39)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Il2	T	A	3: 37,177,282 (GRCm39)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,668,273 (GRCm39)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,905,379 (GRCm39)	I154F	probably damaging	Het
Krt1c	T	C	15: 101,724,379 (GRCm39)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,090,308 (GRCm39)	D163V	probably damaging	Het
Lpl	A	G	8: 69,340,215 (GRCm39)	N70S	probably damaging	Het
Mgme1	A	G	2: 144,114,451 (GRCm39)		probably benign	Het
Mnd1	T	A	3: 83,995,432 (GRCm39)	E187D	probably benign	Het
Morn5	A	G	2: 35,969,533 (GRCm39)	D149G	probably benign	Het
Mrrf	G	A	2: 36,037,965 (GRCm39)	V79I	probably damaging	Het
Msh4	T	A	3: 153,563,270 (GRCm39)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,015,303 (GRCm39)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,803,880 (GRCm39)	C130S	unknown	Het
Ntn5	A	T	7: 45,333,899 (GRCm39)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,012,580 (GRCm39)	V175A	probably benign	Het
Osm	A	G	11: 4,189,839 (GRCm39)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,578,891 (GRCm39)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,390,104 (GRCm39)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,758,910 (GRCm39)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,435,155 (GRCm39)	S524T	probably benign	Het
Prkd1	T	A	12: 50,435,156 (GRCm39)	S524C	probably damaging	Het
Rab4b	T	C	7: 26,874,148 (GRCm39)	I90V		Het
Rc3h1	T	C	1: 160,795,222 (GRCm39)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,524,316 (GRCm39)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,702,558 (GRCm39)	Y332C	probably damaging	Het
Senp2	A	G	16: 21,846,789 (GRCm39)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,532,345 (GRCm39)	M396V	probably benign	Het
Sord	G	A	2: 122,094,607 (GRCm39)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,344,653 (GRCm39)		probably benign	Het
Stard4	T	G	18: 33,336,749 (GRCm39)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,219,094 (GRCm39)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,713,859 (GRCm39)	K227*	probably null	Het
Taf4b	C	T	18: 14,946,485 (GRCm39)	P436L	possibly damaging	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Tmem158	A	G	9: 123,089,309 (GRCm39)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm39)	S77P	probably benign	Het
Ttn	A	T	2: 76,720,307 (GRCm39)	L6973*	probably null	Het
Tubal3	T	C	13: 3,983,293 (GRCm39)	F358L	probably damaging	Het
Tut4	T	C	4: 108,406,575 (GRCm39)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,219,273 (GRCm39)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Yipf1	A	T	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,898,846 (GRCm39)		probably null	Het
Zfp655	C	T	5: 145,181,290 (GRCm39)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,622,410 (GRCm39)	T445I	possibly damaging	Het

Other mutations in Star

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Star	APN	8	26,302,894 (GRCm39)	splice site	probably null
IGL01337:Star	APN	8	26,299,892 (GRCm39)	missense	probably damaging	1.00
IGL02165:Star	APN	8	26,302,843 (GRCm39)	missense	possibly damaging	0.75
IGL03274:Star	APN	8	26,301,082 (GRCm39)	missense	possibly damaging	0.72
BB001:Star	UTSW	8	26,299,883 (GRCm39)	missense	possibly damaging	0.72
BB011:Star	UTSW	8	26,299,883 (GRCm39)	missense	possibly damaging	0.72
R1327:Star	UTSW	8	26,299,865 (GRCm39)	missense	probably benign	0.45
R3816:Star	UTSW	8	26,299,905 (GRCm39)	missense	probably benign	0.15
R4790:Star	UTSW	8	26,298,644 (GRCm39)	missense	probably damaging	0.99
R5490:Star	UTSW	8	26,299,945 (GRCm39)	missense	probably damaging	1.00
R6362:Star	UTSW	8	26,301,835 (GRCm39)	missense	probably benign	0.18
R6964:Star	UTSW	8	26,301,851 (GRCm39)	missense	probably benign	0.00
R7924:Star	UTSW	8	26,299,883 (GRCm39)	missense	possibly damaging	0.72
R8882:Star	UTSW	8	26,302,897 (GRCm39)	missense	probably benign	0.00
R9126:Star	UTSW	8	26,302,832 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CTGTGATGAGTGGACAGAACTG -3'
(R):5'- CGTGGGTACAATGGTCCTAG -3'

Sequencing Primer
(F):5'- GAACTGTCCCTCTCCCAGAG -3'
(R):5'- TGGGTACAATGGTCCTAGCCAATC -3'

Posted On

2021-04-30