Enam - SNV Details

 Human Rare Diseases 
Hypoplastic amelogenesis imperfecta

 Gene Information 
Gene Name Enam
Gene Description enamelin [Source:MGI Symbol;Acc:MGI:1333772]
MGI phenotype Homozygous null mice lack true enamel due to loss of mineralization at the secretory surface of ameloblasts and mandibular incisors are opaque with a rough surface and abnormal wear on the incisal edge. ENU-induced mutant mice provide models for various clinical subtypes of amelogenesis imperfecta.
Uniprot Name
Gene GO
proteinaceous extracellular matrix; biomineral tissue development; cellular_component; amelogenesis; molecular_function
Homolog in other species ENAM
Omim http://omim.org/entry/606585
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029286
Chromosome 5
Coordinate 88,504,559     (Assembly: GRCm38)    
Ref Base T
Codon Change tTa/tAa
Var Base A
Zygosity Heterozygous
Read Depth 103
Allele Frequency
Amino Acid Position 1234
Amino Acid Change L->Stop (Leucine -> Stop)
Sample ID IGL02220
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved