Incidental Mutation 'R6117:Stard3'
ID 485173
Institutional Source Beutler Lab
Gene Symbol Stard3
Ensembl Gene ENSMUSG00000018167
Gene Name StAR related lipid transfer domain containing 3
Synonyms es64, Mln64
MMRRC Submission 044266-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6117 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98249194-98271938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98263088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000018311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018311]
AlphaFold Q61542
Predicted Effect probably damaging
Transcript: ENSMUST00000018311
AA Change: S48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: S48P

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: ENSMUST00000148738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155063
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,348,534 (GRCm39) Y625C probably damaging Het
Ankmy1 A G 1: 92,788,996 (GRCm39) probably benign Het
Apmap T C 2: 150,442,252 (GRCm39) T41A probably benign Het
Cacna1a A G 8: 85,341,350 (GRCm39) Y1804C probably damaging Het
Cacna1e A T 1: 154,437,537 (GRCm39) I333N possibly damaging Het
Cdsn C A 17: 35,865,931 (GRCm39) S153R unknown Het
Celsr1 A T 15: 85,816,612 (GRCm39) M1777K probably benign Het
Cmtr1 A G 17: 29,901,139 (GRCm39) M249V probably benign Het
Cmya5 A G 13: 93,231,674 (GRCm39) L1138P probably damaging Het
Crim1 A C 17: 78,610,517 (GRCm39) D324A probably damaging Het
Dmap1 T A 4: 117,532,732 (GRCm39) probably null Het
Dnah17 T C 11: 118,010,397 (GRCm39) Y307C probably benign Het
Dnah5 T A 15: 28,270,566 (GRCm39) L956H probably damaging Het
Enpp3 C T 10: 24,663,750 (GRCm39) S537N probably damaging Het
Eya3 T A 4: 132,439,173 (GRCm39) L323Q probably damaging Het
Fads3 A T 19: 10,031,631 (GRCm39) H226L probably damaging Het
Flrt3 T A 2: 140,502,365 (GRCm39) D421V possibly damaging Het
Frmd4a T C 2: 4,607,060 (GRCm39) V370A possibly damaging Het
Gapvd1 T C 2: 34,580,471 (GRCm39) probably null Het
Gm2178 T C 14: 26,235,995 (GRCm39) probably benign Het
Gm5592 A G 7: 40,937,888 (GRCm39) N390S probably benign Het
Hoxa10 T A 6: 52,211,800 (GRCm39) R39* probably null Het
Kcnj1 A G 9: 32,308,478 (GRCm39) T281A probably damaging Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Naip1 T A 13: 100,581,245 (GRCm39) M1L probably damaging Het
Or10ak9 A T 4: 118,726,341 (GRCm39) Y121F probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pcdhb12 G A 18: 37,568,695 (GRCm39) probably benign Het
Pde1b T C 15: 103,429,909 (GRCm39) V134A probably damaging Het
Plxnb2 A T 15: 89,042,203 (GRCm39) D1600E probably benign Het
Prss54 T A 8: 96,292,086 (GRCm39) probably null Het
Ryr3 A T 2: 112,465,741 (GRCm39) I4757N probably damaging Het
Slc1a6 T C 10: 78,624,822 (GRCm39) Y76H possibly damaging Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Sox15 G T 11: 69,546,716 (GRCm39) G173V possibly damaging Het
Stk32c G A 7: 138,702,839 (GRCm39) Q67* probably null Het
Svil T A 18: 5,116,016 (GRCm39) W2101R probably damaging Het
Taar7e T A 10: 23,914,427 (GRCm39) Y306N probably damaging Het
Tarbp1 T A 8: 127,154,280 (GRCm39) M1485L probably benign Het
Togaram1 A G 12: 65,014,261 (GRCm39) D504G probably damaging Het
Trrap T C 5: 144,739,771 (GRCm39) L1091S possibly damaging Het
Unc80 A G 1: 66,714,226 (GRCm39) E2856G possibly damaging Het
Usp47 C T 7: 111,687,139 (GRCm39) T699M 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
IGL03160:Stard3 APN 11 98,269,737 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATGATGCCATTCCTGGGACC -3'
(R):5'- ATCAAGCCCATGGGTAAGGC -3'

Sequencing Primer
(F):5'- ATTCCTGGGACCCTGACAG -3'
(R):5'- TAAGGCACCCCTCCCATGTG -3'
Posted On 2017-08-16