Incidental Mutation 'R3236:Stard6'
ID 259068
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 040618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R3236 (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 70633557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 188 (M188K)
Ref Sequence ENSEMBL: ENSMUSP00000134511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114959] [ENSMUST00000164223] [ENSMUST00000168249] [ENSMUST00000174118] [ENSMUST00000174667]
AlphaFold P59096
Predicted Effect probably damaging
Transcript: ENSMUST00000114959
AA Change: M188K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608
AA Change: M188K

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164223
AA Change: M188K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608
AA Change: M188K

DomainStartEndE-ValueType
START 6 208 8.76e-16 SMART
low complexity region 215 229 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168249
AA Change: M188K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608
AA Change: M188K

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 damaging
Transcript: ENSMUST00000174118
AA Change: M188K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608
AA Change: M188K

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 0.5855 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
5730455P16Rik G A 11: 80,258,996 (GRCm39) L255F probably damaging Het
Aff2 T A X: 68,907,543 (GRCm39) V1175E possibly damaging Het
Agbl3 A G 6: 34,800,022 (GRCm39) probably null Het
Armh3 A T 19: 45,963,722 (GRCm39) probably benign Het
Atm T A 9: 53,391,048 (GRCm39) D1842V probably benign Het
Bcar3 C A 3: 122,318,645 (GRCm39) Q678K probably benign Het
Ccdc88a A G 11: 29,397,995 (GRCm39) T243A possibly damaging Het
Col5a3 G T 9: 20,718,949 (GRCm39) N268K unknown Het
Col6a1 G A 10: 76,547,154 (GRCm39) T737M unknown Het
Cyp3a25 T C 5: 145,939,938 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,680 (GRCm39) T1466A probably benign Het
Dnah9 G A 11: 65,845,815 (GRCm39) T3023I probably benign Het
Ecm1 G T 3: 95,642,158 (GRCm39) Q476K possibly damaging Het
Eml6 A G 11: 29,781,097 (GRCm39) probably null Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fyb1 A C 15: 6,659,597 (GRCm39) D434A probably damaging Het
Gm5478 A G 15: 101,552,738 (GRCm39) Y398H probably damaging Het
H2-Q6 C A 17: 35,644,676 (GRCm39) T155K probably damaging Het
Hk1 T C 10: 62,131,798 (GRCm39) probably null Het
Kdm6b A G 11: 69,297,192 (GRCm39) Y387H probably damaging Het
Lipn A G 19: 34,046,138 (GRCm39) N37S probably benign Het
Lrig3 G A 10: 125,833,056 (GRCm39) C310Y probably damaging Het
Map6 T A 7: 98,986,031 (GRCm39) V645E probably damaging Het
Memo1 A T 17: 74,509,347 (GRCm39) I224K probably damaging Het
Morc2a T C 11: 3,633,612 (GRCm39) I602T probably benign Het
N4bp3 A T 11: 51,536,761 (GRCm39) F104Y probably damaging Het
Ndrg3 T A 2: 156,785,957 (GRCm39) I161F probably damaging Het
Notch3 T C 17: 32,377,435 (GRCm39) R214G probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or14j10 T C 17: 37,935,127 (GRCm39) E133G possibly damaging Het
Or4p7 T C 2: 88,221,750 (GRCm39) I53T probably benign Het
Pdgfra T C 5: 75,328,597 (GRCm39) V243A probably damaging Het
Piwil4 A G 9: 14,611,544 (GRCm39) probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pon2 A T 6: 5,266,986 (GRCm39) N252K possibly damaging Het
Ptf1a T C 2: 19,450,718 (GRCm39) F16S probably damaging Het
Rasgrp1 A G 2: 117,122,293 (GRCm39) Y366H probably benign Het
Rbfox1 G A 16: 7,225,892 (GRCm39) V353I possibly damaging Het
Rrh T C 3: 129,605,360 (GRCm39) Y110C probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scaf4 T A 16: 90,057,105 (GRCm39) D82V unknown Het
Serhl C A 15: 82,988,604 (GRCm39) P177Q probably damaging Het
Setdb1 A G 3: 95,246,065 (GRCm39) V619A probably damaging Het
Sf3b3 A G 8: 111,538,652 (GRCm39) S1123P probably damaging Het
Slc1a3 T C 15: 8,668,607 (GRCm39) I453V probably damaging Het
Slf2 A G 19: 44,930,773 (GRCm39) I617V probably benign Het
Snrnp200 T A 2: 127,063,802 (GRCm39) D660E probably damaging Het
Spata22 T A 11: 73,236,713 (GRCm39) F340I probably damaging Het
Speer4e1 T A 5: 14,984,939 (GRCm39) E206D possibly damaging Het
Stat6 G A 10: 127,488,091 (GRCm39) V282I possibly damaging Het
Supt20 T C 3: 54,616,501 (GRCm39) S253P possibly damaging Het
Szt2 A C 4: 118,240,231 (GRCm39) probably null Het
Thsd4 C A 9: 60,301,670 (GRCm39) K208N probably benign Het
Thsd7b C T 1: 130,145,855 (GRCm39) Q1588* probably null Het
Tmem167 C T 13: 90,252,499 (GRCm39) R52C probably benign Het
Ttn T C 2: 76,729,753 (GRCm39) probably benign Het
Usp39 G A 6: 72,315,372 (GRCm39) probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r24 C T 6: 123,755,984 (GRCm39) Q19* probably null Het
Vps13b G A 15: 35,910,450 (GRCm39) E3405K probably benign Het
Zgrf1 A G 3: 127,407,024 (GRCm39) D1597G probably damaging 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
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
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'- ATTGACCTCAGGCCACTCTC -3'
(R):5'- CCACTTACTAGTAGGCTGTGCTG -3'

Sequencing Primer
(F):5'- GTCTTGTCATATGCACTGTAGAAAG -3'
(R):5'- GCTGTCTGAAATCGCTACGG -3'
Posted On 2015-01-23