Incidental Mutation 'R5889:Stard3'
ID 501972
Institutional Source Beutler Lab
Gene Symbol Stard3
Ensembl Gene ENSMUSG00000018167
Gene Name StAR related lipid transfer domain containing 3
Synonyms es64, Mln64
MMRRC Submission 044090-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5889 (G1)
Quality Score 21
Status Validated
Chromosome 11
Chromosomal Location 98249194-98271938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 98266361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 120 (Q120H)
Ref Sequence ENSEMBL: ENSMUSP00000018311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018311]
AlphaFold Q61542
Predicted Effect probably benign
Transcript: ENSMUST00000018311
AA Change: Q120H

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: Q120H

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,461 (GRCm39) E297G probably damaging Het
Astn1 C T 1: 158,427,950 (GRCm39) P707L possibly damaging Het
Cep290 T C 10: 100,334,936 (GRCm39) S319P possibly damaging Het
Chrna4 A C 2: 180,670,451 (GRCm39) L435W probably damaging Het
Cilp C A 9: 65,187,625 (GRCm39) A1240D possibly damaging Het
Col17a1 A G 19: 47,637,511 (GRCm39) F1249S possibly damaging Het
Creb3l3 T C 10: 80,928,367 (GRCm39) probably benign Het
Cyp4f40 C A 17: 32,894,731 (GRCm39) T432N probably benign Het
Dsg1c T G 18: 20,416,658 (GRCm39) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,478,620 (GRCm39) D34E probably damaging Het
Edc4 C T 8: 106,614,654 (GRCm39) T112I possibly damaging Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Exoc6 A G 19: 37,570,693 (GRCm39) H291R probably damaging Het
Fbln5 G T 12: 101,731,485 (GRCm39) N236K probably damaging Het
Fndc8 A T 11: 82,789,555 (GRCm39) T238S probably damaging Het
Frem3 T C 8: 81,340,917 (GRCm39) V1070A probably damaging Het
Gabra4 A T 5: 71,729,234 (GRCm39) N515K possibly damaging Het
Gemin5 A G 11: 58,013,181 (GRCm39) V1422A possibly damaging Het
Gm10118 A G 10: 63,762,890 (GRCm39) probably benign Het
Grm5 A G 7: 87,252,281 (GRCm39) D177G probably damaging Het
Gtf2h4 G A 17: 35,981,792 (GRCm39) P147L possibly damaging Het
Hgsnat T C 8: 26,453,395 (GRCm39) D265G probably damaging Het
Hsd17b4 T A 18: 50,310,276 (GRCm39) L513Q probably damaging Het
Hsd17b7 A T 1: 169,783,487 (GRCm39) M307K probably benign Het
Hspa5 T C 2: 34,664,629 (GRCm39) V361A probably damaging Het
Iqgap2 A G 13: 95,768,550 (GRCm39) V1450A probably benign Het
Itpr3 A G 17: 27,334,039 (GRCm39) E2037G probably damaging Het
Itprid2 T A 2: 79,488,072 (GRCm39) D718E probably damaging Het
Lama5 T C 2: 179,835,467 (GRCm39) probably benign Het
Manba G T 3: 135,230,359 (GRCm39) G311* probably null Het
Mettl24 T A 10: 40,622,486 (GRCm39) V236E probably benign Het
Myh3 A G 11: 66,977,201 (GRCm39) D310G probably damaging Het
Ncoa4 A T 14: 31,888,616 (GRCm39) probably benign Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Nos3 C A 5: 24,573,775 (GRCm39) probably benign Het
Or13c7b T C 4: 43,820,492 (GRCm39) M290V possibly damaging Het
Pcdhga3 T A 18: 37,809,662 (GRCm39) V705D probably damaging Het
Prom2 C T 2: 127,371,331 (GRCm39) A776T possibly damaging Het
Prss48 A G 3: 85,905,492 (GRCm39) I127T probably damaging Het
Rtca T C 3: 116,293,232 (GRCm39) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm39) Y267C probably damaging Het
Scube3 A G 17: 28,379,887 (GRCm39) R272G possibly damaging Het
Sprr1a G T 3: 92,391,951 (GRCm39) H17N probably benign Het
Supt6 A G 11: 78,103,574 (GRCm39) I1377T probably damaging Het
Svop A T 5: 114,203,692 (GRCm39) S30T probably benign Het
Syne2 T A 12: 76,119,026 (GRCm39) L5882* probably null Het
Tanc2 G T 11: 105,812,633 (GRCm39) R1359L probably benign Het
Tmc7 A C 7: 118,165,549 (GRCm39) L55R probably benign Het
Trappc11 G A 8: 47,972,613 (GRCm39) A320V probably benign Het
Ttll8 G C 15: 88,818,142 (GRCm39) P178A probably damaging Het
Ttn T C 2: 76,560,993 (GRCm39) E20809G probably damaging Het
Tubb2a A T 13: 34,259,451 (GRCm39) V113E possibly damaging Het
Ube2d1 A T 10: 71,095,699 (GRCm39) probably benign Het
Usp48 T C 4: 137,343,723 (GRCm39) V452A probably benign Het
Vldlr T A 19: 27,217,064 (GRCm39) I39N probably damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Zyg11b C T 4: 108,094,577 (GRCm39) W669* probably null 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
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
Predicted Primers PCR Primer
(F):5'- GCAGGGACGTAAAGACTTTGC -3'
(R):5'- GACCTTGACAATGAGGAATGCAC -3'

Sequencing Primer
(F):5'- GTTTCTGCCAAGGAAACACTG -3'
(R):5'- TGAGGAATGCACTGGACACC -3'
Posted On 2018-02-01