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
integral to membrane; cytoplasm; protein binding; cytosol; 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 122,095,686     (Assembly: GRCm38)    
Ref Base T
Codon Change caA/caT
Var Base A
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.42
A:V0.58
Amino Acid Position 709
Amino Acid Change Q->H (Glutamine -> Histidine)
Sample ID IGL02129
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.61
Polyphen Prediction Possibly damaging
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved