Nedd4 - SNV Details



 Gene Information 
Gene Name Nedd4
Old Gene Names for Nedd4 Aa959633 , Al023035 , Au019897 , E430025j12rik , Nedd4a
Gene Description neural precursor cell expressed, developmentally down-regulated 4 [Source:MGI Symbol;Acc:MGI:97297]
MGI phenotype Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development.
Uniprot Name
CCDS Name
Gene GO
cellular response to UV; proline-rich region binding; blood vessel morphogenesis; endocardial cushion development; regulation of ion transmembrane transport; regulation of potassium ion transmembrane transporter activity; lysosomal transport; perinuclear region of cytoplasm; membrane; development involved in symbiotic interaction; cell cortex; RNA polymerase binding; transmission of virus; phosphoserine binding; receptor internalization; cytoplasm; sodium channel inhibitor activity; neuromuscular junction development; ubiquitin ligase complex; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; intracellular; phosphothreonine binding; negative regulation of vascular endothelial growth factor receptor signaling pathway; ubiquitin binding; cellular protein modification process; positive regulation of protein catabolic process; ubiquitin-protein ligase activity; regulation of dendrite morphogenesis; positive regulation of phosphatidylinositol 3-kinase cascade; protein binding; protein ubiquitination; protein K63-linked ubiquitination; neuron projection development; protein monoubiquitination; nucleus; cytosol; negative regulation of sodium ion transport; receptor catabolic process; protein domain specific binding; beta-2 adrenergic receptor binding; chromatin; protein targeting to lysosome; positive regulation of nucleocytoplasmic transport; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage; outflow tract morphogenesis; glucocorticoid receptor signaling pathway; plasma membrane; regulation of synapse organization; regulation of membrane potential; T cell activation; adaptive immune response; Golgi apparatus; progesterone receptor signaling pathway
Homolog in other species NEDD4
Omim http://omim.org/entry/602278
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN/HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, SPLEEN, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032216
Chromosome 9
Coordinate 72,736,934     (Assembly: GRCm38)    
Ref Base T
Codon Change aTg/aAg
Var Base A
Zygosity Heterozygous
Read Depth 58
Allele Frequency
T:R0.52
A:V0.48
Amino Acid Position 661
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL01973
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 58 Other Mutations

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

 Protein domains 
ENSMUSP00000034740:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
HECT HECT IPR000569 ENSMUSP00000034740 Pfam 582
884 Description available Search pathways
HECT HECT IPR000569 ENSMUSP00000034740 Superfamily 507
881 Description available Search pathways
HECT HECT IPR000569 ENSMUSP00000034740 Smart 550
886 Description available Search pathways
HECT HECT IPR000569 ENSMUSP00000034740 Prosite_profiles 552
886 Description available Search pathways

 Availability Details 
Availability