Incidental Mutation 'R2850:Stard6'
ID 252140
Institutional Source Beutler Lab
Gene Symbol Stard6
Ensembl Gene ENSMUSG00000079608
Gene Name StAR related lipid transfer domain containing 6
Synonyms 4933429L05Rik, 1700011K09Rik, 4833424I06Rik
MMRRC Submission 040443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R2850 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 70605525-70634137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70616522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 60 (H60Q)
Ref Sequence ENSEMBL: ENSMUSP00000134511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114959] [ENSMUST00000164223] [ENSMUST00000168249] [ENSMUST00000173951] [ENSMUST00000174118] [ENSMUST00000174667]
AlphaFold P59096
Predicted Effect probably benign
Transcript: ENSMUST00000114959
AA Change: H60Q

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
AA Change: H60Q

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164223
AA Change: H60Q

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
AA Change: H60Q

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168249
AA Change: H60Q

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
AA Change: H60Q

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173951
SMART Domains Protein: ENSMUSP00000134211
Gene: ENSMUSG00000079608

DomainStartEndE-ValueType
Blast:START 1 54 8e-18 BLAST
PDB:2MOU|A 1 54 3e-17 PDB
SCOP:d1em2a_ 1 54 2e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174118
AA Change: H60Q

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
AA Change: H60Q

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Ago1 T C 4: 126,336,868 (GRCm39) probably benign Het
Ahi1 C T 10: 20,876,492 (GRCm39) T801I probably benign Het
Alms1 T C 6: 85,598,281 (GRCm39) S1505P probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Anxa6 T A 11: 54,901,852 (GRCm39) Y95F possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Clk1 A G 1: 58,451,438 (GRCm39) L457S probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Cntnap5c T A 17: 58,717,343 (GRCm39) probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cubn G A 2: 13,327,764 (GRCm39) T2687I probably damaging Het
Cypt3 T A X: 152,342,274 (GRCm39) N168K probably damaging Het
E330020D12Rik A G 1: 153,282,336 (GRCm39) noncoding transcript Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Fbxo22 T C 9: 55,130,699 (GRCm39) F323L probably damaging Het
Fnip1 A T 11: 54,393,503 (GRCm39) E646D probably benign Het
Gid4 G A 11: 60,329,400 (GRCm39) probably null Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Gpank1 A G 17: 35,343,557 (GRCm39) S346G probably benign Het
Gtf3c6 T C 10: 40,130,254 (GRCm39) probably benign Het
Hdx T C X: 110,502,720 (GRCm39) I562V probably benign Het
Ifrd2 T C 9: 107,468,908 (GRCm39) probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Kif11 C A 19: 37,397,941 (GRCm39) D630E probably benign Het
Lpl G T 8: 69,352,164 (GRCm39) E372* probably null Het
Mrps26 T C 2: 130,406,967 (GRCm39) V198A probably benign Het
Mucl1 T C 15: 103,782,348 (GRCm39) N201S possibly damaging Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nfat5 A G 8: 108,020,492 (GRCm39) D12G probably damaging Het
Or5b102 T C 19: 13,040,934 (GRCm39) L53P probably damaging Het
Pik3r3 A G 4: 116,127,981 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,350,622 (GRCm39) V489E possibly damaging Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Plb1 T A 5: 32,450,568 (GRCm39) S370T probably benign Het
Ppat G A 5: 77,067,222 (GRCm39) T337I probably benign Het
Prkd3 A G 17: 79,262,025 (GRCm39) V763A possibly damaging Het
Prr9 A T 3: 92,030,476 (GRCm39) S55T probably benign Het
Rbpms G T 8: 34,324,405 (GRCm39) N108K possibly damaging Het
Rc3h2 A T 2: 37,267,427 (GRCm39) D972E probably benign Het
Rrbp1 C T 2: 143,791,269 (GRCm39) R1378Q probably benign Het
Slc26a7 T A 4: 14,593,806 (GRCm39) probably benign Het
Sult6b2 T C 6: 142,743,613 (GRCm39) T138A probably benign Het
Th G A 7: 142,447,812 (GRCm39) Q329* probably null Het
Tmco3 A G 8: 13,345,024 (GRCm39) H268R probably benign Het
Tnn T C 1: 159,966,857 (GRCm39) D429G probably benign Het
Tnrc6a G A 7: 122,779,023 (GRCm39) G1245R probably damaging Het
Trem3 C A 17: 48,556,669 (GRCm39) L47M probably benign Het
Trpm6 T A 19: 18,769,454 (GRCm39) C307S possibly damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Wdr81 A T 11: 75,341,998 (GRCm39) S1090T probably damaging Het
Ythdf3 T C 3: 16,257,982 (GRCm39) probably benign Het
Zfp280d A G 9: 72,219,371 (GRCm39) T183A probably benign Het
Zfp354c G A 11: 50,706,158 (GRCm39) Q306* probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R 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
IGL02934:Stard6 APN 18 70,629,175 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AACCAAGGTCTGTCTGTGTG -3'
(R):5'- AATGGTCCTTGGTTCAGTCC -3'

Sequencing Primer
(F):5'- CAAGGTCTGTCTGTGTGTGTATATAC -3'
(R):5'- GTCCTTGGTTCAGTCCCCAAC -3'
Posted On 2014-12-04