Incidental Mutation 'IGL01312:Stard5'
ID 73720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard5
Ensembl Gene ENSMUSG00000046027
Gene Name StAR related lipid transfer domain containing 5
Synonyms 18B7-T7(GS), D7Ertd152e, 2310058G22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01312
Quality Score
Status
Chromosome 7
Chromosomal Location 83281225-83291536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83282397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 70 (P70L)
Ref Sequence ENSEMBL: ENSMUSP00000112781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075418] [ENSMUST00000117410]
AlphaFold Q9EPQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000075418
AA Change: P70L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027
AA Change: P70L

DomainStartEndE-ValueType
START 7 210 8.57e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117410
AA Change: P70L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027
AA Change: P70L

DomainStartEndE-ValueType
Pfam:START 7 196 5.9e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208892
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal vertebral transverse process morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle2 G T 5: 110,382,218 (GRCm39) V65L probably benign Het
C3 G A 17: 57,532,993 (GRCm39) probably benign Het
Colgalt1 G A 8: 72,075,420 (GRCm39) R442H probably damaging Het
Epb41l2 A G 10: 25,317,485 (GRCm39) M1V probably null Het
Etaa1 A G 11: 17,895,909 (GRCm39) L736S probably damaging Het
Foxm1 T C 6: 128,350,337 (GRCm39) F546S probably damaging Het
Fscn3 T C 6: 28,434,469 (GRCm39) I348T probably damaging Het
Garre1 A T 7: 33,955,933 (GRCm39) D385E probably benign Het
Gcm2 T C 13: 41,256,607 (GRCm39) T381A probably damaging Het
Nup153 T C 13: 46,840,300 (GRCm39) T1103A probably benign Het
Or10ag59 A G 2: 87,405,518 (GRCm39) Q30R probably damaging Het
Pde7b A G 10: 20,311,940 (GRCm39) probably null Het
Shld2 T C 14: 33,990,150 (GRCm39) D252G possibly damaging Het
St7 T A 6: 17,922,013 (GRCm39) I361N probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tas2r134 T A 2: 51,518,247 (GRCm39) L242H probably damaging Het
Tnrc6b G A 15: 80,807,779 (GRCm39) R1577H probably damaging Het
Trappc11 C A 8: 47,958,712 (GRCm39) A716S possibly damaging Het
Wdr35 C T 12: 9,058,655 (GRCm39) T604M probably damaging Het
Zbtb24 T G 10: 41,327,885 (GRCm39) I257S possibly damaging Het
Other mutations in Stard5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Stard5 APN 7 83,289,653 (GRCm39) missense possibly damaging 0.71
IGL03374:Stard5 APN 7 83,285,980 (GRCm39) missense possibly damaging 0.83
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0038:Stard5 UTSW 7 83,285,951 (GRCm39) splice site probably benign
R0631:Stard5 UTSW 7 83,281,965 (GRCm39) missense probably damaging 1.00
R2170:Stard5 UTSW 7 83,282,366 (GRCm39) missense probably benign 0.01
R2995:Stard5 UTSW 7 83,281,951 (GRCm39) missense probably damaging 1.00
R4616:Stard5 UTSW 7 83,282,489 (GRCm39) intron probably benign
R5372:Stard5 UTSW 7 83,282,428 (GRCm39) missense probably damaging 1.00
R5628:Stard5 UTSW 7 83,282,355 (GRCm39) missense probably benign 0.30
R7836:Stard5 UTSW 7 83,285,984 (GRCm39) missense probably damaging 1.00
R9249:Stard5 UTSW 7 83,281,253 (GRCm39) missense probably damaging 0.97
R9574:Stard5 UTSW 7 83,281,944 (GRCm39) missense probably benign
Posted On 2013-10-07