Incidental Mutation 'IGL00340:Stard3'
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ID4506
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stard3
Ensembl Gene ENSMUSG00000018167
Gene NameSTART domain containing 3
Synonymses64, Mln64
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00340
Quality Score
Status
Chromosome11
Chromosomal Location98358368-98381112 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98377459 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 239 (Y239H)
Ref Sequence ENSEMBL: ENSMUSP00000018311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018311]
Predicted Effect probably damaging
Transcript: ENSMUST00000018311
AA Change: Y239H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167
AA Change: Y239H

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,220,762 L230I probably damaging Het
Adamts3 G A 5: 89,701,666 H632Y probably damaging Het
Adgre5 T A 8: 83,728,401 M221L probably benign Het
Apba2 A T 7: 64,736,941 I439F possibly damaging Het
Arid1b C A 17: 5,321,284 N632K probably damaging Het
Bcas3 A T 11: 85,365,591 I60L probably damaging Het
Brd9 T C 13: 73,938,547 S56P probably damaging Het
Ccdc57 T A 11: 120,860,469 D925V possibly damaging Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Cdhr3 T C 12: 33,052,209 T410A probably benign Het
Ddx60 G T 8: 61,958,646 D511Y probably damaging Het
Drc7 C A 8: 95,056,001 probably benign Het
Dysf A G 6: 84,141,951 E1290G probably benign Het
Fam168b T C 1: 34,836,802 M1V probably null Het
Farsa A G 8: 84,864,257 K208R probably damaging Het
Fnip2 A G 3: 79,518,061 probably benign Het
Gm17535 A T 9: 3,035,111 H170L probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm5852 T C 3: 93,727,194 noncoding transcript Het
Gnb2 T C 5: 137,530,706 probably benign Het
Gpr158 A G 2: 21,368,683 N143S probably damaging Het
Hcn1 C A 13: 117,602,977 Q92K unknown Het
Helb T C 10: 120,098,245 I678V possibly damaging Het
Hnrnpl C A 7: 28,813,373 A118D probably damaging Het
Klhl14 G A 18: 21,651,864 P169S probably benign Het
Kndc1 T C 7: 139,901,988 probably benign Het
Lmod2 A G 6: 24,598,052 E57G probably damaging Het
Lrch4 T C 5: 137,637,747 I300T possibly damaging Het
Lrp6 A G 6: 134,456,090 V1426A probably benign Het
Lrrc39 A G 3: 116,570,981 probably benign Het
Mamstr G A 7: 45,644,285 V262I probably benign Het
Mob1b A T 5: 88,756,155 T217S probably benign Het
Mocs3 G A 2: 168,231,491 R286H possibly damaging Het
Mpo A T 11: 87,802,617 Q27L probably benign Het
Ncdn A T 4: 126,747,188 D506E probably benign Het
Noxa1 A G 2: 25,094,902 I8T probably benign Het
Olfr46 T A 7: 140,610,753 S196T probably damaging Het
Olfr514 C T 7: 108,825,073 V309I probably benign Het
Olfr878 A G 9: 37,919,050 Y131C probably damaging Het
Oma1 G T 4: 103,319,368 A110S probably benign Het
Pde4a A C 9: 21,211,061 K694T probably benign Het
Phc1 A G 6: 122,322,999 probably benign Het
Pias1 A G 9: 62,923,296 V187A probably damaging Het
Pifo A G 3: 106,014,508 V33A probably benign Het
Pigf C A 17: 87,020,448 L130F probably null Het
Pkd1 G T 17: 24,580,095 V2763L probably damaging Het
Ppp1r8 T C 4: 132,834,681 Y76C probably damaging Het
Ppp6r3 C A 19: 3,518,324 G158V probably damaging Het
Ptpn13 A G 5: 103,551,058 I1136V probably damaging Het
Ptprq T C 10: 107,576,929 I1770V probably damaging Het
Rhpn2 A T 7: 35,370,760 I148F probably damaging Het
Stau1 T C 2: 166,950,809 Y412C probably benign Het
Sucnr1 A G 3: 60,086,632 I194V probably benign Het
Tanc1 A G 2: 59,790,841 T335A possibly damaging Het
Tmem126a T C 7: 90,452,755 T79A probably benign Het
Trav9-2 A T 14: 53,591,383 Y70F probably benign Het
Tspear A G 10: 77,873,236 E432G probably benign Het
Ube2o T C 11: 116,544,754 R403G probably benign Het
Unc80 C A 1: 66,606,459 S1431R possibly damaging Het
Usp24 G A 4: 106,401,139 C1578Y probably damaging Het
Vsig10 A T 5: 117,351,587 M473L probably benign Het
Xpot T A 10: 121,605,644 M559L probably benign Het
Other mutations in Stard3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00498:Stard3 APN 11 98376530 missense possibly damaging 0.90
IGL01652:Stard3 APN 11 98378733 splice site probably benign
IGL02553:Stard3 APN 11 98376563 missense possibly damaging 0.55
IGL03160:Stard3 APN 11 98378911 missense probably damaging 1.00
R0508:Stard3 UTSW 11 98372314 missense probably damaging 0.99
R1619:Stard3 UTSW 11 98376609 critical splice donor site probably null
R4781:Stard3 UTSW 11 98372334 missense possibly damaging 0.91
R5889:Stard3 UTSW 11 98375535 missense probably benign 0.13
R6117:Stard3 UTSW 11 98372262 missense probably damaging 1.00
R6406:Stard3 UTSW 11 98378769 missense probably benign 0.06
R7290:Stard3 UTSW 11 98378219 critical splice donor site probably null
R7719:Stard3 UTSW 11 98375676 missense probably benign 0.05
Posted On2012-04-20