Nae1 - SNV Details



 Gene Information 
Gene Name Nae1
Old Gene Names for Nae1 Appbp1
Gene Description NEDD8 activating enzyme E1 subunit 1 [Source:MGI Symbol;Acc:MGI:2384561]
Uniprot Name
CCDS Name
Gene GO
protein neddylation; catalytic activity; ubiquitin protein ligase binding; protein binding; neuron apoptotic process; NEDD8 activating enzyme activity; plasma membrane; regulation of apoptotic process; regulation of neuron apoptotic process; mitotic DNA replication checkpoint; protein heterodimerization activity
Homolog in other species NAE1
Omim http://omim.org/entry/603385
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000031878
Chromosome 8
Coordinate 104,518,179     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
A:R0.54
T:V0.46
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL03202
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved