Incidental Mutation 'IGL03374:Stard5'
ID 420427
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 # IGL03374
Quality Score
Status
Chromosome 7
Chromosomal Location 83281225-83291536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83285980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000112781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075418] [ENSMUST00000117410]
AlphaFold Q9EPQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000075418
AA Change: S102P

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027
AA Change: S102P

DomainStartEndE-ValueType
START 7 210 8.57e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000117410
AA Change: S102P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027
AA Change: S102P

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: ENSMUST00000208892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207355
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Stard5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Stard5 APN 7 83,282,397 (GRCm39) missense probably damaging 1.00
IGL02100:Stard5 APN 7 83,289,653 (GRCm39) missense possibly damaging 0.71
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 2016-08-02