Incidental Mutation 'IGL03160:Stard3'
ID 411369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard3
Ensembl Gene ENSMUSG00000018167
Gene Name StAR related lipid transfer domain containing 3
Synonyms es64, Mln64
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03160
Quality Score
Status
Chromosome 11
Chromosomal Location 98249194-98271938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98269737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 352 (R352L)
Ref Sequence ENSEMBL: ENSMUSP00000018311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008021] [ENSMUST00000018311]
AlphaFold Q61542
Predicted Effect probably benign
Transcript: ENSMUST00000008021
SMART Domains Protein: ENSMUSP00000008021
Gene: ENSMUSG00000007877

DomainStartEndE-ValueType
Pfam:Telethonin 3 167 7.7e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000018311
AA Change: R352L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: R352L

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Pfam:MENTAL 48 214 1.1e-65 PFAM
START 240 445 4.43e-67 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155063
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a truncated allele are viable and fertile and display mild defects in cholesterol metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T C 13: 111,392,462 (GRCm39) S266P probably benign Het
Agrn A T 4: 156,254,820 (GRCm39) F1525Y probably damaging Het
Akap13 T C 7: 75,380,165 (GRCm39) V2165A probably damaging Het
Ccn6 T C 10: 39,029,233 (GRCm39) T232A probably damaging Het
Cd109 G T 9: 78,568,338 (GRCm39) probably null Het
Cdhr4 A C 9: 107,873,068 (GRCm39) T339P probably benign Het
Chek1 T C 9: 36,633,941 (GRCm39) H128R probably damaging Het
Clcn7 T A 17: 25,365,427 (GRCm39) probably benign Het
Dnah9 A G 11: 65,998,880 (GRCm39) F1056S probably damaging Het
Eml3 A T 19: 8,912,319 (GRCm39) Q372L probably benign Het
Fam161b T C 12: 84,400,599 (GRCm39) T458A probably benign Het
Fbxo3 T A 2: 103,860,692 (GRCm39) C36* probably null Het
Gm28042 T A 2: 119,866,309 (GRCm39) I369N possibly damaging Het
Gpc1 A G 1: 92,785,579 (GRCm39) Y423C probably damaging Het
Heatr5a A G 12: 51,931,279 (GRCm39) probably benign Het
Hectd4 A T 5: 121,397,942 (GRCm39) Y290F probably benign Het
Ifi207 T C 1: 173,562,670 (GRCm39) probably benign Het
Kndc1 A T 7: 139,500,605 (GRCm39) K657* probably null Het
Lama5 T C 2: 179,822,128 (GRCm39) T2927A probably damaging Het
Lepr A T 4: 101,622,103 (GRCm39) N345I probably damaging Het
Mtbp T C 15: 55,484,013 (GRCm39) probably benign Het
Muc1 G A 3: 89,140,331 (GRCm39) V608I possibly damaging Het
Or56a3 A G 7: 104,735,520 (GRCm39) N199S probably damaging Het
P2ry13 A G 3: 59,117,496 (GRCm39) L94P probably damaging Het
Retreg3 G T 11: 100,990,501 (GRCm39) Q89K probably benign Het
Rhoq A C 17: 87,304,349 (GRCm39) Y160S probably damaging Het
Samd9l A T 6: 3,374,894 (GRCm39) V789D probably damaging Het
Slc35f5 T C 1: 125,502,472 (GRCm39) S275P probably damaging Het
Slc51a G A 16: 32,297,568 (GRCm39) R110C probably damaging Het
Snapc1 T A 12: 74,016,978 (GRCm39) H205Q probably damaging Het
Stat5a A G 11: 100,752,671 (GRCm39) I85V possibly damaging Het
Tenm3 A T 8: 49,099,453 (GRCm39) D117E probably benign Het
Tg T A 15: 66,711,152 (GRCm39) C971* probably null Het
Tnrc6c T A 11: 117,640,651 (GRCm39) probably benign Het
Tra2a C T 6: 49,240,798 (GRCm39) V4I possibly damaging Het
Trim54 C T 5: 31,289,424 (GRCm39) T145I probably damaging Het
Vmn2r75 T C 7: 85,797,644 (GRCm39) D723G probably damaging Het
Wnk1 T C 6: 119,903,594 (GRCm39) T2042A probably damaging Het
Zfp87 T C 13: 67,669,392 (GRCm39) E18G probably damaging Het
Other mutations in Stard3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Stard3 APN 11 98,268,285 (GRCm39) missense probably damaging 0.99
IGL00498:Stard3 APN 11 98,267,356 (GRCm39) missense possibly damaging 0.90
IGL01652:Stard3 APN 11 98,269,559 (GRCm39) splice site probably benign
IGL02553:Stard3 APN 11 98,267,389 (GRCm39) missense possibly damaging 0.55
R0508:Stard3 UTSW 11 98,263,140 (GRCm39) missense probably damaging 0.99
R1619:Stard3 UTSW 11 98,267,435 (GRCm39) critical splice donor site probably null
R4781:Stard3 UTSW 11 98,263,160 (GRCm39) missense possibly damaging 0.91
R5889:Stard3 UTSW 11 98,266,361 (GRCm39) missense probably benign 0.13
R6117:Stard3 UTSW 11 98,263,088 (GRCm39) missense probably damaging 1.00
R6406:Stard3 UTSW 11 98,269,595 (GRCm39) missense probably benign 0.06
R7290:Stard3 UTSW 11 98,269,045 (GRCm39) critical splice donor site probably null
R7719:Stard3 UTSW 11 98,266,502 (GRCm39) missense probably benign 0.05
R9275:Stard3 UTSW 11 98,262,931 (GRCm39) start gained probably benign
R9278:Stard3 UTSW 11 98,262,931 (GRCm39) start gained probably benign
R9563:Stard3 UTSW 11 98,270,797 (GRCm39) critical splice acceptor site probably null
Posted On 2016-08-02