Incidental Mutation 'IGL02100:Stard5'
ID 279706
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 # IGL02100
Quality Score
Status
Chromosome 7
Chromosomal Location 83281225-83291536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83289653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 173 (V173A)
Ref Sequence ENSEMBL: ENSMUSP00000074872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001792] [ENSMUST00000075418] [ENSMUST00000117410] [ENSMUST00000145610]
AlphaFold Q9EPQ7
Predicted Effect probably benign
Transcript: ENSMUST00000001792
SMART Domains Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741

DomainStartEndE-ValueType
low complexity region 76 92 N/A INTRINSIC
low complexity region 99 115 N/A INTRINSIC
PDZ 222 300 6.5e-23 SMART
PDZ 361 438 3.89e-12 SMART
low complexity region 507 526 N/A INTRINSIC
low complexity region 556 577 N/A INTRINSIC
low complexity region 589 602 N/A INTRINSIC
low complexity region 647 680 N/A INTRINSIC
low complexity region 776 787 N/A INTRINSIC
low complexity region 825 839 N/A INTRINSIC
low complexity region 978 989 N/A INTRINSIC
PDZ 1115 1192 3.6e-16 SMART
low complexity region 1201 1216 N/A INTRINSIC
PDZ 1234 1310 4.11e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000075418
AA Change: V173A

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074872
Gene: ENSMUSG00000046027
AA Change: V173A

DomainStartEndE-ValueType
START 7 210 8.57e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117410
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027

DomainStartEndE-ValueType
Pfam:START 7 196 5.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150174
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,136,029 (GRCm39) Q347L probably null Het
Acvr2a T C 2: 48,788,630 (GRCm39) probably benign Het
Ankrd28 T C 14: 31,449,582 (GRCm39) probably benign Het
Atp6v1b1 A G 6: 83,735,426 (GRCm39) Y498C probably damaging Het
Cdh3 G A 8: 107,270,322 (GRCm39) V400I probably benign Het
Chrnb1 G T 11: 69,684,281 (GRCm39) probably benign Het
Col1a2 A G 6: 4,524,177 (GRCm39) probably benign Het
Cyp2j7 A G 4: 96,124,793 (GRCm39) L35P probably damaging Het
Dennd2c G A 3: 103,060,991 (GRCm39) S561N probably damaging Het
Dennd4a A T 9: 64,816,988 (GRCm39) probably benign Het
Dnai4 A G 4: 102,907,346 (GRCm39) C647R probably damaging Het
Dynll1 A C 5: 115,436,852 (GRCm39) V58G probably damaging Het
Eif3a A T 19: 60,755,442 (GRCm39) probably benign Het
Ercc6 T C 14: 32,239,052 (GRCm39) S47P probably benign Het
Fam76b A G 9: 13,755,416 (GRCm39) probably benign Het
Gbp4 T A 5: 105,269,941 (GRCm39) probably benign Het
Gdi2 T C 13: 3,606,373 (GRCm39) F140L probably benign Het
Gm28043 T C 17: 29,910,400 (GRCm39) probably null Het
Gm5117 T A 8: 32,227,412 (GRCm39) noncoding transcript Het
Gstm6 G T 3: 107,849,653 (GRCm39) N85K probably benign Het
Hip1r C T 5: 124,137,006 (GRCm39) probably benign Het
Igf1r T C 7: 67,839,706 (GRCm39) I671T probably benign Het
Insrr T G 3: 87,718,927 (GRCm39) F961C probably damaging Het
Kbtbd8 T C 6: 95,099,663 (GRCm39) Y314H probably damaging Het
Kif26b C A 1: 178,743,512 (GRCm39) L756I probably damaging Het
Lcor G A 19: 41,547,193 (GRCm39) R259Q possibly damaging Het
Mad1l1 T A 5: 140,129,689 (GRCm39) S449C probably damaging Het
Map1a T G 2: 121,133,327 (GRCm39) L1381R probably damaging Het
Mdn1 G T 4: 32,715,708 (GRCm39) V1992L possibly damaging Het
Pigp G A 16: 94,165,626 (GRCm39) Q99* probably null Het
Pip4p2 T C 4: 14,893,536 (GRCm39) I133T probably benign Het
Rgs8 A T 1: 153,568,469 (GRCm39) probably null Het
Rnf170 T A 8: 26,614,012 (GRCm39) L36H probably damaging Het
Rpap1 T C 2: 119,599,807 (GRCm39) S1004G probably benign Het
Rpl10a-ps2 T C 13: 8,990,779 (GRCm39) probably benign Het
Ryr2 T A 13: 11,752,759 (GRCm39) E1854V possibly damaging Het
Scn7a T G 2: 66,505,843 (GRCm39) *1682S probably null Het
Sema3d A G 5: 12,634,958 (GRCm39) T675A probably benign Het
Slc1a2 T C 2: 102,586,434 (GRCm39) F346S probably damaging Het
St14 G T 9: 31,011,426 (GRCm39) probably benign Het
Taf1b A G 12: 24,594,394 (GRCm39) Y309C possibly damaging Het
Tet1 T C 10: 62,648,507 (GRCm39) N1975S possibly damaging Het
Them5 T A 3: 94,251,782 (GRCm39) I131N probably damaging Het
Tnc A C 4: 63,918,398 (GRCm39) V1171G possibly damaging Het
Ttc12 C A 9: 49,351,482 (GRCm39) G672W probably damaging Het
Usp8 T C 2: 126,579,774 (GRCm39) probably benign Het
Utp4 A G 8: 107,624,807 (GRCm39) N92S probably benign Het
Was A T X: 7,956,554 (GRCm39) F38L possibly damaging Het
Other mutations in Stard5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Stard5 APN 7 83,282,397 (GRCm39) missense probably damaging 1.00
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 2015-04-16