Adam1b - SNV Details



 Gene Information 
Gene Name Adam1b
Gene Description a disintegrin and metallopeptidase domain 1b [Source:MGI Symbol;Acc:MGI:2429506]
MGI phenotype Mice homozygous for a knock-out allele are viable, healthy and fertile with no significant defects in sperm function.
Uniprot Name
CCDS Name
Gene GO
metallopeptidase activity; spermatogenesis; integral to membrane; zinc ion binding; protein binding; proteolysis; metalloendopeptidase activity
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062438
Chromosome 5
Coordinate 121,501,398     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.69
C:V0.31
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02479
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved