Slc27a5 - SNV Details



 Gene Information 
Gene Name Slc27a5
Old Gene Names for Slc27a5 Vlacsr
Gene Description solute carrier family 27 (fatty acid transporter), member 5 [Source:MGI Symbol;Acc:MGI:1347100]
MGI phenotype Mice homozygous for a null allele exhibit altered lipid homeostasis.
Uniprot Name
CCDS Name
Gene GO
fatty acid transporter activity; catalytic activity; cholate-CoA ligase activity; triglyceride mobilization; very long-chain fatty acid metabolic process; bile acid biosynthetic process; endoplasmic reticulum; metabolic process; intracellular membrane-bounded organelle; protein complex; plasma membrane long-chain fatty acid transport; bile acid metabolic process; integral component of endoplasmic reticulum membrane; very long-chain fatty acid-CoA ligase activity; fatty acid transport; protein complex binding; basal plasma membrane; ATP binding; ketone body biosynthetic process; long-chain fatty acid-CoA ligase activity; long-chain fatty acid metabolic process
Homolog in other species SLC27A5
Omim http://omim.org/entry/603314
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030382
Chromosome 7
Coordinate 12,988,639     (Assembly: GRCm38)    
Ref Base A
Codon Change aTc/aCc
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.69
G:V0.31
Amino Acid Position 636
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL00592
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.16
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved