Gm20388,Afg3l1 - SNV Details



 Gene Information 
Gene Name Gm20388 , Afg3l1
Old Gene Names for Afg3l1 1700047g05rik , 3110061k15rik
Gene Description AFG3(ATPase family gene 3)-like 1 (yeast) [Source:MGI Symbol;Acc:MGI:1928277],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; Golgi cisterna membrane; protein glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; carbohydrate binding; extracellular region
mitochondrion; membrane; integral to membrane; mitochondrial fusion; mitochondrion organization; zinc ion binding; nucleoside-triphosphatase activity; mitochondrial protein processing; cristae formation; protein catabolic process; nucleotide binding; ATP binding; proteolysis; mitochondrial membrane; metalloendopeptidase activity
Homolog in other species AFG3L1P,NO_HOMOLOG
Omim NO_OMIM,http://omim.org/entry/603020
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN),NO_IMMGEN
Gnf Expression
MEDIAN,NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000092329
Chromosome 8
Coordinate 123,494,853     (Assembly: GRCm38)    
Ref Base C
Codon Change Cgt/Tgt
Var Base T
Zygosity Heterozygous
Read Depth 90
Allele Frequency
C:R0.54
T:V0.46
Amino Acid Position 484
Amino Acid Change R->C (Arginine -> Cysteine)
Sample ID IGL01612
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved