Bicd2 - SNV Details



 Gene Information 
Gene Name Bicd2
Old Gene Names for Bicd2 0610027d24rik , 1110005d12rik
Gene Description bicaudal D homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:1924145]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; microtubule-based movement; protein binding; cytoskeleton; transport; minus-end-directed organelle transport along microtubule; microtubule anchoring at microtubule organizing center; cytoplasmic vesicle; Rab GTPase binding; plasma membrane; Golgi apparatus
Homolog in other species BICD2
Omim http://omim.org/entry/609797
Immgen Expression
MEDIAN
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037933
Chromosome 13
Coordinate 49,369,499     (Assembly: GRCm38)    
Ref Base T
Codon Change aTc/aAc
Var Base A
Zygosity Heterozygous
Read Depth 16
Allele Frequency
T:R0.31
A:V0.69
Amino Acid Position 30
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02029
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000105711:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Bicaudal-D protein, microtubule-associated Bicaudal-D_microtubule-assoc IPR018477 ENSMUSP00000105711 Pfam 9
723 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved