Mutagenetix > Incidental Mutation

Incidental Mutation 'R8882:Star'

676984

Institutional Source

Beutler Lab

Gene Symbol

Star

Ensembl Gene

ENSMUSG00000031574

Gene Name

steroidogenic acute regulatory protein

Synonyms

D8Ertd419e

MMRRC Submission

068750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26298502-26306010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26302897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 280 (S280P)

Ref Sequence

ENSEMBL: ENSMUSP00000033979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033979] [ENSMUST00000068892] [ENSMUST00000110608] [ENSMUST00000110609] [ENSMUST00000110610] [ENSMUST00000139946] [ENSMUST00000151856] [ENSMUST00000166078] [ENSMUST00000210565]

AlphaFold

P51557

Predicted Effect

probably benign
Transcript: ENSMUST00000033979
AA Change: S280P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033979
Gene: ENSMUSG00000031574
AA Change: S280P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068892

SMART Domains

Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	36	59	N/A	INTRINSIC
PDB:3S32\|A	90	275	1e-136	PDB
Blast:PHD	103	146	2e-6	BLAST
low complexity region	280	306	N/A	INTRINSIC
SPRY	413	577	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110608

SMART Domains

Protein: ENSMUSP00000106238
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	455	1.13e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110609

SMART Domains

Protein: ENSMUSP00000106239
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110610

SMART Domains

Protein: ENSMUSP00000106240
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139946

SMART Domains

Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	36	59	N/A	INTRINSIC
PDB:3S32\|A	90	275	1e-141	PDB
Blast:PHD	103	146	1e-6	BLAST
transmembrane domain	278	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151856

SMART Domains

Protein: ENSMUSP00000117488
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	36	59	N/A	INTRINSIC
PDB:3S32\|A	90	272	1e-125	PDB
Blast:PHD	103	146	1e-6	BLAST
transmembrane domain	286	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166078

SMART Domains

Protein: ENSMUSP00000132546
Gene: ENSMUSG00000031575

Domain	Start	End	E-Value	Type
PDB:3S32\|A	1	186	1e-137	PDB
Blast:PHD	14	57	2e-6	BLAST
low complexity region	191	217	N/A	INTRINSIC
SPRY	324	488	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210565

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	T	13: 111,392,033 (GRCm39)	I123L	probably benign	Het
Adam18	T	C	8: 25,136,438 (GRCm39)	D361G	probably benign	Het
Adcyap1r1	G	A	6: 55,468,219 (GRCm39)	V352M	possibly damaging	Het
Ahnak	T	C	19: 8,978,106 (GRCm39)	L75P	probably damaging	Het
Arhgap23	T	C	11: 97,355,949 (GRCm39)	S856P	probably benign	Het
Asprv1	G	T	6: 86,605,349 (GRCm39)	C65F	probably benign	Het
Atp2b4	A	T	1: 133,654,193 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,387,501 (GRCm39)	V99A	probably benign	Het
Cit	G	A	5: 116,001,089 (GRCm39)	A163T	probably benign	Het
Dnah6	A	T	6: 73,155,481 (GRCm39)	D711E	probably benign	Het
Dnajc15	A	T	14: 78,094,411 (GRCm39)	V41E	probably damaging	Het
Dock2	GCACACACACA	GCACACACACACA	11: 34,595,436 (GRCm39)	453	probably null	Het
Dst	T	C	1: 34,240,005 (GRCm39)	S1785P	probably damaging	Het
Efhb	A	G	17: 53,769,712 (GRCm39)	V199A	probably damaging	Het
Esyt3	C	T	9: 99,202,909 (GRCm39)	G498D	probably damaging	Het
Fbxo11	A	G	17: 88,304,957 (GRCm39)	I562T		Het
Fh1	C	T	1: 175,437,353 (GRCm39)	V249I	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,704 (GRCm39)	I245T	possibly damaging	Het
Hinfp	A	G	9: 44,209,629 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,140,025 (GRCm39)	K1043E	probably damaging	Het
Htt	G	A	5: 34,979,061 (GRCm39)	V815I	probably benign	Het
Jrk	A	G	15: 74,579,004 (GRCm39)	Y94H	probably damaging	Het
Krit1	T	A	5: 3,886,864 (GRCm39)	N704K	possibly damaging	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Nlrp9a	T	A	7: 26,257,703 (GRCm39)	Y440*	probably null	Het
Nphp3	A	G	9: 103,882,793 (GRCm39)	T216A	possibly damaging	Het
Or1e1f	T	G	11: 73,855,940 (GRCm39)	C169G	probably damaging	Het
Or4a79	G	T	2: 89,551,740 (GRCm39)	C238*	probably null	Het
Or5ae2	T	C	7: 84,505,681 (GRCm39)	Y37H	probably damaging	Het
Or7e176	T	C	9: 20,171,256 (GRCm39)	F40S	probably benign	Het
Or8c15	T	A	9: 38,120,461 (GRCm39)	Y35*	probably null	Het
Parva	T	C	7: 112,027,211 (GRCm39)	S14P	probably benign	Het
Pax6	A	C	2: 105,521,963 (GRCm39)	N207H	possibly damaging	Het
Pde6a	A	G	18: 61,378,619 (GRCm39)	N314S		Het
Phlpp1	T	A	1: 106,320,372 (GRCm39)	S1456T	probably benign	Het
Plxnc1	A	G	10: 94,677,428 (GRCm39)	V933A	probably damaging	Het
Rasgef1b	A	G	5: 99,524,860 (GRCm39)	S100P	probably benign	Het
Rpn2	A	G	2: 157,136,102 (GRCm39)	H170R	probably benign	Het
Sbds	A	G	5: 130,282,778 (GRCm39)		probably null	Het
Scube2	G	C	7: 109,451,680 (GRCm39)	L158V	probably damaging	Het
Slc16a12	C	A	19: 34,649,854 (GRCm39)	V394L	probably benign	Het
Slc23a2	A	T	2: 131,933,159 (GRCm39)	Y100N	possibly damaging	Het
Slc30a9	G	T	5: 67,473,044 (GRCm39)	E43*	probably null	Het
Specc1l	A	T	10: 75,065,689 (GRCm39)	M1L	unknown	Het
Sspo	T	A	6: 48,452,390 (GRCm39)	C2785S	probably damaging	Het
Strip1	A	T	3: 107,534,341 (GRCm39)	M127K	probably benign	Het
Tbx19	C	T	1: 164,966,780 (GRCm39)	V365M	probably benign	Het
Tex2	T	C	11: 106,435,062 (GRCm39)	D788G	unknown	Het
Tspyl1	A	G	10: 34,158,494 (GRCm39)	E73G	possibly damaging	Het
Ulk2	C	T	11: 61,698,887 (GRCm39)		probably null	Het
Vmn2r120	A	T	17: 57,852,229 (GRCm39)	M29K	probably benign	Het
Vmn2r60	C	A	7: 41,790,518 (GRCm39)	Q502K	probably benign	Het
Xpo5	A	G	17: 46,538,666 (GRCm39)	D624G	possibly damaging	Het
Zfp119b	T	C	17: 56,246,923 (GRCm39)	R88G	possibly damaging	Het
Zfp879	C	A	11: 50,724,763 (GRCm39)	E98*	probably null	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
R8805:Star	UTSW	8	26,299,577 (GRCm39)	missense	probably benign	0.01
R9126:Star	UTSW	8	26,302,832 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ATCCAGCAAGACCAAGCTTG -3'
(R):5'- CTTCACAGCTATGCAGTGGGAG -3'

Sequencing Primer
(F):5'- CAAGACCAAGCTTGAGGTGCC -3'
(R):5'- TGGGAGACACTAGAGAACTTTTATTC -3'

Posted On

2021-07-15