Zfyve26 - SNV Details



 Human Rare Diseases 
Autosomal recessive spastic paraplegia type 15

 Gene Information 
Gene Name Zfyve26
Old Gene Names for Zfyve26 Gm893 , 9330197e15rik , A630028o16rik
Gene Description zinc finger, FYVE domain containing 26 [Source:MGI Symbol;Acc:MGI:1924767]
Uniprot Name
CCDS Name
Gene GO
DNA repair
catalytic activity
cell cycle
centrosome
cytokinesis
cytoplasm
cytoskeleton
double-strand break repair via homologous recombination
lipid binding
metal ion binding
midbody
Homolog in other species ZFYVE26
Omim http://omim.org/entry/612012
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066440
Chromosome 12
Coordinate 79,280,900     (Assembly: GRCm38)    
Ref Base A
Codon Change Tct/Cct
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:0.45
G:0.55
Amino Acid Position 559
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL00940
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.26
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved