Mycbp2 - SNV Details



 Gene Information 
Gene Name Mycbp2
Old Gene Names for Mycbp2 C130061d10rik , Au023734 , Aw107953 , Aw546647 , R75243 , Phr1
Gene Description MYC binding protein 2 [Source:MGI Symbol;Acc:MGI:2179432]
MGI phenotype Mice homozygous for a targeted allele exhibit neonatal lethality, defective diaphragm innervation, abnormal brain morphology and defective axonal guidance.
Uniprot Name
CCDS Name
Gene GO
ubiquitin-protein transferase activity; regulation of cytoskeleton organization; membrane; regulation of protein localization; negative regulation of protein catabolic process; zinc ion binding; protein homodimerization activity; protein binding; protein ubiquitination; branchiomotor neuron axon guidance; central nervous system projection neuron axonogenesis; binding; axon; cell morphogenesis involved in neuron differentiation; microtubule cytoskeleton; motor neuron axon guidance
Homolog in other species MYCBP2
Omim http://omim.org/entry/610392
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033004
Chromosome 14
Coordinate 103,247,758     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 84
Allele Frequency
A:R0.58
T:V0.42
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL03303
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved