Incidental Mutation 'IGL02934:Stard6'
ID 364249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard6
Ensembl Gene ENSMUSG00000079608
Gene Name StAR related lipid transfer domain containing 6
Synonyms 4933429L05Rik, 1700011K09Rik, 4833424I06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL02934
Quality Score
Status
Chromosome 18
Chromosomal Location 70605525-70634137 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 70629175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114959] [ENSMUST00000164223] [ENSMUST00000168249] [ENSMUST00000174118] [ENSMUST00000174667]
AlphaFold P59096
Predicted Effect probably benign
Transcript: ENSMUST00000114959
SMART Domains Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164223
SMART Domains Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168249
SMART Domains Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173612
Predicted Effect probably benign
Transcript: ENSMUST00000174118
SMART Domains Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174667
SMART Domains Protein: ENSMUSP00000133956
Gene: ENSMUSG00000079608

DomainStartEndE-ValueType
Pfam:START 4 98 9.6e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Stard6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Stard6 APN 18 70,616,559 (GRCm39) missense probably benign 0.00
IGL02403:Stard6 APN 18 70,629,183 (GRCm39) critical splice acceptor site probably null
IGL03144:Stard6 APN 18 70,609,182 (GRCm39) missense possibly damaging 0.53
R0344:Stard6 UTSW 18 70,629,186 (GRCm39) missense probably damaging 1.00
R2850:Stard6 UTSW 18 70,616,522 (GRCm39) missense probably benign 0.20
R2896:Stard6 UTSW 18 70,609,459 (GRCm39) missense probably benign 0.02
R3236:Stard6 UTSW 18 70,633,557 (GRCm39) missense probably damaging 0.99
R4532:Stard6 UTSW 18 70,616,605 (GRCm39) missense probably damaging 1.00
R4959:Stard6 UTSW 18 70,631,631 (GRCm39) missense possibly damaging 0.92
R4973:Stard6 UTSW 18 70,631,631 (GRCm39) missense possibly damaging 0.92
R5080:Stard6 UTSW 18 70,629,293 (GRCm39) missense probably damaging 1.00
R6380:Stard6 UTSW 18 70,609,459 (GRCm39) missense probably benign 0.02
R7331:Stard6 UTSW 18 70,616,553 (GRCm39) missense probably damaging 1.00
R7396:Stard6 UTSW 18 70,633,506 (GRCm39) missense possibly damaging 0.95
R7399:Stard6 UTSW 18 70,631,718 (GRCm39) splice site probably null
R8002:Stard6 UTSW 18 70,633,597 (GRCm39) missense possibly damaging 0.68
R9512:Stard6 UTSW 18 70,633,601 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18