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 Non-synonymous
Ensembl ID ENSMUSG00000031878
Chromosome 8
Coordinate 104,526,381     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 35
Allele Frequency
A:R0.60
T:V0.40
Amino Acid Position 137
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL00476
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0.31
Polyphen Prediction Benign
Sift Score 0.08
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000034349:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
UBA/THIF-type NAD/FAD binding fold ThiF_NAD_FAD-bd IPR000594 ENSMUSP00000034349 Pfam 30
159 Description available Search pathways
Molybdenum cofactor biosynthesis, MoeB Molybdenum_cofac_synth_MoeB IPR009036 ENSMUSP00000034349 Superfamily 9
534 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved