Gm20388,Afg3l1 - SNV Details



 Gene Information 
Gene Name Gm20388 , Afg3l1
Old Gene Names for Afg3l1 1700047g05rik , 3110061k15rik
Gene Description AFG3-like AAA ATPase 1 [Source:MGI Symbol;Acc:MGI:1928277],predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; membrane; mitochondrial fusion; mitochondrion organization; zinc ion binding; nucleoside-triphosphatase activity; integral component of membrane; mitochondrial protein processing; cristae formation; nucleotide binding; ATP binding; proteolysis; mitochondrial membrane; metalloendopeptidase activity
Golgi cisterna membrane; Golgi lumen; protein O-linked glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; manganese ion binding; integral component of membrane; extracellular region
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 123,487,389     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 378
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Change F->I (Phenylalanine -> Isoleucine)
Sample ID IGL00331
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved