Incidental Mutation 'IGL01337:Star'
ID 74675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Star
Ensembl Gene ENSMUSG00000031574
Gene Name steroidogenic acute regulatory protein
Synonyms D8Ertd419e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01337
Quality Score
Status
Chromosome 8
Chromosomal Location 26298502-26306010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26299892 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P51557
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: 121,645,529 (GRCm39) Y1025H probably damaging Het
Adarb2 T C 13: 8,620,282 (GRCm39) L256P probably benign Het
Arsj A G 3: 126,158,763 (GRCm39) Y114C probably damaging Het
Bdp1 G A 13: 100,192,700 (GRCm39) P1378L probably benign Het
Clca3a2 T C 3: 144,800,939 (GRCm39) Y138C probably damaging Het
Dsp G A 13: 38,376,663 (GRCm39) D1483N probably benign Het
Etl4 T C 2: 20,790,198 (GRCm39) S617P probably benign Het
Fbxo34 T C 14: 47,767,674 (GRCm39) S345P probably benign Het
Gm5420 A G 10: 21,567,514 (GRCm39) noncoding transcript Het
Gpr182 T A 10: 127,586,655 (GRCm39) I99F possibly damaging Het
Hectd1 A G 12: 51,849,057 (GRCm39) I349T possibly damaging Het
Kifc5b A G 17: 27,143,718 (GRCm39) T497A possibly damaging Het
Mllt3 A C 4: 87,759,057 (GRCm39) D330E probably damaging Het
Mpp3 T C 11: 101,891,411 (GRCm39) T576A probably benign Het
Mroh2b A G 15: 4,934,506 (GRCm39) M126V probably benign Het
Naalad2 T G 9: 18,238,669 (GRCm39) D644A probably damaging Het
Or4a74 A G 2: 89,439,720 (GRCm39) I242T probably damaging Het
Otof C A 5: 30,563,121 (GRCm39) A242S possibly damaging Het
Otof T C 5: 30,576,856 (GRCm39) D132G probably benign Het
Pdk4 T A 6: 5,491,869 (GRCm39) M68L probably benign Het
Ptprf A G 4: 118,093,488 (GRCm39) Y385H probably damaging Het
Rxrb A G 17: 34,255,605 (GRCm39) N254S probably damaging Het
Samd5 T A 10: 9,504,768 (GRCm39) Y162F probably benign Het
Sapcd2 A G 2: 25,266,491 (GRCm39) *392W probably null Het
Senp6 T C 9: 80,043,792 (GRCm39) Y635H probably damaging Het
Serpine1 C A 5: 137,098,185 (GRCm39) V163L probably damaging Het
Slc15a1 T C 14: 121,698,091 (GRCm39) E678G possibly damaging Het
Slc22a16 T C 10: 40,471,310 (GRCm39) F494L possibly damaging Het
Slc5a12 T A 2: 110,450,718 (GRCm39) C304* probably null Het
Spink1 G A 18: 43,870,216 (GRCm39) probably benign Het
Stx1a T C 5: 135,074,518 (GRCm39) I203T probably damaging Het
Tap2 A G 17: 34,424,386 (GRCm39) probably benign Het
Trim75 T C 8: 65,436,387 (GRCm39) D21G possibly damaging Het
Vmn1r62 T A 7: 5,679,144 (GRCm39) I275N probably damaging Het
Other mutations in Star
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Star APN 8 26,302,894 (GRCm39) splice site probably null
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
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
Posted On 2013-10-07