Incidental Mutation 'IGL01337:Star'
ID74675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Star
Ensembl Gene ENSMUSG00000031574
Gene Namesteroidogenic acute regulatory protein
SynonymsD8Ertd419e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01337
Quality Score
Status
Chromosome8
Chromosomal Location25806555-25815982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 25809864 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 78 (G78E)
Ref Sequence ENSEMBL: ENSMUSP00000148087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033979] [ENSMUST00000210565]
Predicted Effect probably damaging
Transcript: ENSMUST00000033979
AA Change: G78E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033979
Gene: ENSMUSG00000031574
AA Change: G78E

DomainStartEndE-ValueType
START 75 280 3.63e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210565
AA Change: G78E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,668,570 Y1025H probably damaging Het
Adarb2 T C 13: 8,570,246 L256P probably benign Het
Arsj A G 3: 126,365,114 Y114C probably damaging Het
Bdp1 G A 13: 100,056,192 P1378L probably benign Het
Clca2 T C 3: 145,095,178 Y138C probably damaging Het
Dsp G A 13: 38,192,687 D1483N probably benign Het
Etl4 T C 2: 20,785,387 S617P probably benign Het
Fbxo34 T C 14: 47,530,217 S345P probably benign Het
Gm5420 A G 10: 21,691,615 noncoding transcript Het
Gpr182 T A 10: 127,750,786 I99F possibly damaging Het
Hectd1 A G 12: 51,802,274 I349T possibly damaging Het
Kifc5b A G 17: 26,924,744 T497A possibly damaging Het
Mllt3 A C 4: 87,840,820 D330E probably damaging Het
Mpp3 T C 11: 102,000,585 T576A probably benign Het
Mroh2b A G 15: 4,905,024 M126V probably benign Het
Naalad2 T G 9: 18,327,373 D644A probably damaging Het
Olfr1247 A G 2: 89,609,376 I242T probably damaging Het
Otof C A 5: 30,405,777 A242S possibly damaging Het
Otof T C 5: 30,419,512 D132G probably benign Het
Pdk4 T A 6: 5,491,869 M68L probably benign Het
Ptprf A G 4: 118,236,291 Y385H probably damaging Het
Rxrb A G 17: 34,036,631 N254S probably damaging Het
Samd5 T A 10: 9,629,024 Y162F probably benign Het
Sapcd2 A G 2: 25,376,479 *392W probably null Het
Senp6 T C 9: 80,136,510 Y635H probably damaging Het
Serpine1 C A 5: 137,069,331 V163L probably damaging Het
Slc15a1 T C 14: 121,460,679 E678G possibly damaging Het
Slc22a16 T C 10: 40,595,314 F494L possibly damaging Het
Slc5a12 T A 2: 110,620,373 C304* probably null Het
Spink1 G A 18: 43,737,151 probably benign Het
Stx1a T C 5: 135,045,664 I203T probably damaging Het
Tap2 A G 17: 34,205,412 probably benign Het
Trim75 T C 8: 64,983,735 D21G possibly damaging Het
Vmn1r62 T A 7: 5,676,145 I275N probably damaging Het
Other mutations in Star
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Star APN 8 25812866 unclassified probably null
IGL02165:Star APN 8 25812815 missense possibly damaging 0.75
IGL03274:Star APN 8 25811054 missense possibly damaging 0.72
R1327:Star UTSW 8 25809837 missense probably benign 0.45
R3816:Star UTSW 8 25809877 missense probably benign 0.15
R4790:Star UTSW 8 25808616 missense probably damaging 0.99
R5490:Star UTSW 8 25809917 missense probably damaging 1.00
R6362:Star UTSW 8 25811807 missense probably benign 0.18
R6964:Star UTSW 8 25811823 missense probably benign 0.00
Posted On2013-10-07