Incidental Mutation 'R6406:Stard3'
ID 516316
Institutional Source Beutler Lab
Gene Symbol Stard3
Ensembl Gene ENSMUSG00000018167
Gene Name StAR related lipid transfer domain containing 3
Synonyms es64, Mln64
MMRRC Submission 044551-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6406 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98249194-98271938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98269595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 330 (V330A)
Ref Sequence ENSEMBL: ENSMUSP00000018311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018311]
AlphaFold Q61542
Predicted Effect probably benign
Transcript: ENSMUST00000018311
AA Change: V330A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: V330A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C T 17: 45,817,865 (GRCm39) P29L probably benign Het
Acsm1 A G 7: 119,261,484 (GRCm39) N567S probably benign Het
Ahi1 T G 10: 20,852,948 (GRCm39) N505K probably damaging Het
Ank2 T A 3: 126,825,874 (GRCm39) D356V probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifb6 C A 2: 153,746,457 (GRCm39) T117K possibly damaging Het
C2cd6 T C 1: 59,097,835 (GRCm39) E418G possibly damaging Het
Cbx1 A T 11: 96,692,364 (GRCm39) K84* probably null Het
Cr2 A G 1: 194,852,079 (GRCm39) L90P probably damaging Het
Dclk1 A G 3: 55,387,827 (GRCm39) D91G probably damaging Het
Dock1 C A 7: 134,747,215 (GRCm39) Q1509K probably benign Het
Fzd1 T G 5: 4,806,089 (GRCm39) T498P probably damaging Het
Galnt12 A G 4: 47,122,534 (GRCm39) N271S probably benign Het
Gm12888 A G 4: 121,176,654 (GRCm39) I49T possibly damaging Het
Gria4 A T 9: 4,427,077 (GRCm39) W788R probably damaging Het
Ilf3 C T 9: 21,307,540 (GRCm39) A379V probably damaging Het
Islr2 A G 9: 58,107,263 (GRCm39) V43A probably benign Het
Jag1 T A 2: 136,929,563 (GRCm39) N782I probably damaging Het
Klhl8 T A 5: 104,010,981 (GRCm39) I539F possibly damaging Het
Lama5 A T 2: 179,839,257 (GRCm39) C750* probably null Het
Lrrc37a T A 11: 103,388,361 (GRCm39) T2355S unknown Het
Lrrc8a A G 2: 30,147,103 (GRCm39) H639R possibly damaging Het
Map1a A T 2: 121,131,224 (GRCm39) D442V probably damaging Het
Mier3 T C 13: 111,846,343 (GRCm39) probably null Het
Msantd1 C A 5: 35,080,665 (GRCm39) probably null Het
Ncapd2 C A 6: 125,150,841 (GRCm39) A785S probably benign Het
Ncbp2 CTCGTCTGG C 16: 31,775,159 (GRCm39) probably null Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Ndst4 T C 3: 125,232,150 (GRCm39) S240P probably benign Het
Nek9 T C 12: 85,385,946 (GRCm39) D17G probably damaging Het
Nkx6-1 C T 5: 101,811,677 (GRCm39) A142T unknown Het
Nt5dc1 T C 10: 34,200,404 (GRCm39) H205R probably benign Het
Or5b94 T C 19: 12,652,184 (GRCm39) I205T probably benign Het
Or9g3 T A 2: 85,590,651 (GRCm39) Q23L possibly damaging Het
Pafah1b1 A G 11: 74,573,098 (GRCm39) M322T probably benign Het
Parp2 A G 14: 51,056,934 (GRCm39) N353D probably benign Het
Pdcd6ip T C 9: 113,503,412 (GRCm39) N452S possibly damaging Het
Pkd1l2 A G 8: 117,762,586 (GRCm39) V1397A probably damaging Het
Prkdc T A 16: 15,535,665 (GRCm39) L1675Q probably damaging Het
Ptprt T C 2: 161,395,703 (GRCm39) I1157V probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Sele G T 1: 163,878,312 (GRCm39) C217F probably damaging Het
Spats1 T A 17: 45,768,191 (GRCm39) H125L probably damaging Het
Synj2 T A 17: 6,069,846 (GRCm39) probably benign Het
Thoc1 T A 18: 9,977,963 (GRCm39) F301L probably damaging Het
Thumpd3 G A 6: 113,032,924 (GRCm39) E221K probably damaging Het
Trim61 T C 8: 65,466,377 (GRCm39) T295A possibly damaging Het
Trp53bp1 T C 2: 121,101,093 (GRCm39) Q35R probably damaging Het
Tsnaxip1 C T 8: 106,570,615 (GRCm39) T578I probably benign 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
R6117:Stard3 UTSW 11 98,263,088 (GRCm39) missense probably damaging 1.00
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'- GTGCTTACCTTGTACCCAGC -3'
(R):5'- ACCTGACATATTTGTGCGTGGG -3'

Sequencing Primer
(F):5'- CCTGGGCCTGCAGGGAG -3'
(R):5'- CAATGCCGGATGACAGGTATC -3'
Posted On 2018-05-04