Tubb1 - SNV Details

 Human Rare Diseases 
Autosomal dominant macrothrombocytopenia

 Gene Information 
Gene Name Tubb1
Old Gene Names for Tubb1 2810484g07rik
Gene Description tubulin, beta 1 class VI [Source:MGI Symbol;Acc:MGI:107814]
MGI phenotype Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects.
Uniprot Name
Gene GO
spindle assembly; protein polymerization; GTP catabolic process; cytoplasm; microtubule-based movement; GTPase activity; microtubule; protein complex; microtubule-based process; GTP binding; microtubule cytoskeleton; structural constituent of cytoskeleton; plasma membrane
Homolog in other species TUBB1
Omim http://omim.org/entry/612901
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000016255
Chromosome 2
Coordinate 174,455,669     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 62
Allele Frequency
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02534
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

Polyphen Score 0.02
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved