Fbxl20 - SNV Details



 Gene Information 
Gene Name Fbxl20
Old Gene Names for Fbxl20 Ai849362 , 2610511f20rik , Al117906 , C86145 , 4632423n09rik
Gene Description F-box and leucine-rich repeat protein 20 [Source:MGI Symbol;Acc:MGI:1919444]
MGI phenotype Mice homozygous for a null allele exhibit some embryonic lethality, shortened lifespans, decreased body size and altered CNS synaptic transmission.
Uniprot Name
CCDS Name
Gene GO
cytoplasm; behavioral fear response; protein binding; cellular_component
Homolog in other species FBXL20
Omim http://omim.org/entry/609086
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020883
Chromosome 11
Coordinate 98,090,674     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 47
Allele Frequency
C:R0.47
T:V0.53
Amino Acid Change G->D (Glycine -> Aspartic acid)
Sample ID IGL00161
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.88
Polyphen Prediction Possibly damaging

 Availability Details 
Availability