Incidental Mutation 'R6964:Star'
ID 541890
Institutional Source Beutler Lab
Gene Symbol Star
Ensembl Gene ENSMUSG00000031574
Gene Name steroidogenic acute regulatory protein
Synonyms D8Ertd419e
MMRRC Submission 045074-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6964 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 26298502-26306010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26301851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 227 (H227Q)
Ref Sequence ENSEMBL: ENSMUSP00000033979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033979] [ENSMUST00000068892] [ENSMUST00000139946] [ENSMUST00000210565]
AlphaFold P51557
Predicted Effect probably benign
Transcript: ENSMUST00000033979
AA Change: H227Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000033979
Gene: ENSMUSG00000031574
AA Change: H227Q

DomainStartEndE-ValueType
START 75 280 3.63e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068892
SMART Domains Protein: ENSMUSP00000070957
Gene: ENSMUSG00000031575

DomainStartEndE-ValueType
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: ENSMUST00000139946
SMART Domains Protein: ENSMUSP00000118346
Gene: ENSMUSG00000031575

DomainStartEndE-ValueType
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: ENSMUST00000210565
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630089N07Rik A T 16: 97,866,959 (GRCm39) Y334* probably null Het
Abcc2 A C 19: 43,786,515 (GRCm39) I116L probably benign Het
Adamts17 T A 7: 66,559,148 (GRCm39) Y313N possibly damaging Het
Adamts17 A G 7: 66,654,101 (GRCm39) T444A probably benign Het
Adamtsl1 A G 4: 86,075,091 (GRCm39) I153V probably damaging Het
Ambra1 C T 2: 91,747,761 (GRCm39) Q1046* probably null Het
Ap1g2 A T 14: 55,336,722 (GRCm39) V750D possibly damaging Het
Bcl7a T C 5: 123,507,519 (GRCm39) probably null Het
C4bp A T 1: 130,585,009 (GRCm39) L9Q probably damaging Het
Cadps2 A C 6: 23,583,458 (GRCm39) V344G probably damaging Het
Car7 A G 8: 105,270,213 (GRCm39) D15G possibly damaging Het
Cep126 G C 9: 8,112,101 (GRCm39) H157Q probably null Het
Chst11 C T 10: 83,027,215 (GRCm39) T214I probably damaging Het
Cntrob G A 11: 69,200,317 (GRCm39) R526* probably null Het
Cul1 A G 6: 47,493,443 (GRCm39) T445A probably benign Het
Dclre1c T C 2: 3,454,206 (GRCm39) V363A possibly damaging Het
Dock10 T A 1: 80,481,365 (GRCm39) probably benign Het
Donson A G 16: 91,478,107 (GRCm39) Y465H probably benign Het
Eif3e G A 15: 43,135,685 (GRCm39) A118V probably benign Het
Fam47e A T 5: 92,713,911 (GRCm39) Q180L probably damaging Het
Fat1 T G 8: 45,496,982 (GRCm39) C4156G probably damaging Het
Fermt2 A T 14: 45,702,599 (GRCm39) I441K probably damaging Het
Frmd4b C T 6: 97,282,158 (GRCm39) R510Q probably damaging Het
Fscn1 C T 5: 142,946,415 (GRCm39) A71V probably damaging Het
Gfap G A 11: 102,787,783 (GRCm39) A54V possibly damaging Het
Gjc3 C T 5: 137,955,759 (GRCm39) M175I probably benign Het
Gm10645 C T 8: 83,892,581 (GRCm39) probably benign Het
Haus5 G A 7: 30,357,040 (GRCm39) P464S probably benign Het
Helz2 T A 2: 180,872,221 (GRCm39) I2584F probably damaging Het
Mak T A 13: 41,186,067 (GRCm39) I534L probably benign Het
Map3k9 T C 12: 81,819,777 (GRCm39) D159G probably benign Het
Mcat A G 15: 83,432,132 (GRCm39) probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Ntng2 T A 2: 29,087,041 (GRCm39) Y452F probably benign Het
Or10ag60 T C 2: 87,437,957 (GRCm39) L75P probably damaging Het
Or4a72 T A 2: 89,405,333 (GRCm39) I246F probably benign Het
Or5b118 T A 19: 13,448,725 (GRCm39) Y130* probably null Het
Or5p53 A T 7: 107,532,966 (GRCm39) I80L probably benign Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pianp T A 6: 124,976,353 (GRCm39) V54D possibly damaging Het
Ptprn T C 1: 75,237,293 (GRCm39) D103G possibly damaging Het
Rhcg A G 7: 79,250,279 (GRCm39) V268A probably benign Het
Rhoj T A 12: 75,422,163 (GRCm39) Y74N probably damaging Het
Rigi A G 4: 40,225,697 (GRCm39) S235P probably benign Het
Snx13 A C 12: 35,169,788 (GRCm39) T578P possibly damaging Het
Stau2 A C 1: 16,460,229 (GRCm39) M204R probably damaging Het
Steap4 A G 5: 8,025,568 (GRCm39) Y43C probably damaging Het
Syt8 A G 7: 141,993,158 (GRCm39) E21G probably benign Het
Tacr3 T C 3: 134,535,500 (GRCm39) V156A probably damaging Het
Tmem106b C T 6: 13,082,422 (GRCm39) T199M probably benign Het
Tmem131 T C 1: 36,835,373 (GRCm39) T1583A probably damaging Het
Tom1 G A 8: 75,778,593 (GRCm39) V87I probably null Het
Treml4 G T 17: 48,579,847 (GRCm39) probably null Het
Ttn T C 2: 76,544,457 (GRCm39) K32843R probably damaging Het
Wdr95 T G 5: 149,505,315 (GRCm39) C223W probably damaging Het
Wipi1 C T 11: 109,494,590 (GRCm39) R81Q probably benign Het
Zc3h7a G A 16: 10,967,088 (GRCm39) T568I probably benign Het
Zfp287 A T 11: 62,615,643 (GRCm39) I228N probably damaging Het
Zfp606 T A 7: 12,223,519 (GRCm39) V10E probably damaging Het
Other mutations in Star
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CAGGTTCTGATGAGCTAGTACCC -3'
(R):5'- CAGTGTCCTCAGACTTCCAC -3'

Sequencing Primer
(F):5'- TGATGAGCTAGTACCCATGCC -3'
(R):5'- TTGCTGTCACACATGAGCAC -3'
Posted On 2018-11-28