Huwe1 - SNV Details



 Human Rare Diseases 
Intellectual deficit, X-linked, Turner type

 Gene Information 
Gene Name Huwe1
Old Gene Names for Huwe1 Ureb1 , 5430439h10rik , Au041296 , C80292 , Gm1718 , C430014n20rik
Gene Description HECT, UBA and WWE domain containing 1 [Source:MGI Symbol;Acc:MGI:1926884]
MGI phenotype Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; ubiquitin-protein transferase activity; membrane; cytoplasm; protein polyubiquitination; protein ubiquitination involved in ubiquitin-dependent protein catabolic process; poly(A) RNA binding; DNA binding; protein binding; binding; protein monoubiquitination; nucleus; extracellular vesicular exosome; base-excision repair; ligase activity; histone ubiquitination
Homolog in other species HUWE1
Omim http://omim.org/entry/300697
Immgen Expression
HIGH(LOWER IN GN.BM)
Gnf Expression
HIGH
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025261
Chromosome X
Coordinate 151,886,766     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.37
G:V0.63
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02902
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 65 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Line Propagating , Progeny Cryopreserved