Btd - SNV Details



 Human Rare Diseases 
Biotinidase deficiency

 Gene Information 
Gene Name Btd
Gene Description biotinidase [Source:MGI Symbol;Acc:MGI:1347001]
MGI phenotype Mice homozygous for a knock-out allele exhibit behavioral/neurological defects, weakness, bone loss, weight loss, and alopecia when fed a biotin-deprived diet.
Uniprot Name
CCDS Name
Gene GO
biotinidase activity; biotin metabolic process; extracellular vesicular exosome; apical part of cell; perikaryon; nitrogen compound metabolic process; hydrolase activity
acting on carbon-nitrogen (but not peptide) bonds
in linear amides; nucleolus; hydrolase activity
acting on carbon-nitrogen (but not peptide) bonds; extracellular space
Homolog in other species BTD
Omim http://omim.org/entry/608306
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021900
Chromosome 14
Coordinate 31,667,362     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.60
C:V0.40
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL02728
Median Base Quality 37
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 73 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved