Adam3 - SNV Details



 Gene Information 
Gene Name Adam3
Old Gene Names for Adam3 Cyrn1
Gene Description a disintegrin and metallopeptidase domain 3 (cyritestin) [Source:MGI Symbol;Acc:MGI:102518]
MGI phenotype Mice homozygous for targeted mutations that inactivate the gene are male infertile, due to the inability of the sperm to bind to the zona pellucida. If the zona pellucida is removed sperm-egg membrane fusion happens as expected.
Uniprot Name
CCDS Name
Gene GO
sperm part; zinc ion binding; membrane raft; protein binding; cell surface; binding of sperm to zona pellucida; extracellular region; proteolysis; metalloendopeptidase activity
Homolog in other species ADAM3A
Immgen Expression
LOW
Gnf Expression
LOW(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031553
Chromosome 8
Coordinate 24,697,191     (Assembly: GRCm38)    
Ref Base C
Codon Change tGt/tTt
Var Base A
Zygosity Heterozygous
Read Depth 49
Allele Frequency
C:R0.49
A:V0.51
Amino Acid Position 428
Amino Acid Change C->F (Cysteine -> Phenylalanine)
Sample ID IGL02355
Median Base Quality 39
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved