Spg11 - SNV Details



 Human Rare Diseases 
Autosomal recessive spastic paraplegia type 11

 Gene Information 
Gene Name Spg11
Old Gene Names for Spg11 C530005a01rik , 6030465e24rik
Gene Description spastic paraplegia 11 [Source:MGI Symbol;Acc:MGI:2444989]
Uniprot Name
CCDS Name
Gene GO
lysosomal membrane; cytoplasm; protein binding; integral component of membrane; cytosol; extracellular vesicular exosome; cytoplasmic vesicle; plasma membrane; biological_process; nucleolus; molecular_function
Homolog in other species SPG11
Omim http://omim.org/entry/610844
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033396
Chromosome 2
Coordinate 122,059,507     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 30
Allele Frequency
T:R0.43
A:V0.57
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL02743
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.73
Polyphen Prediction Possibly damaging

 Availability Details 
Availability