Spink5 - SNV Details



 Human Rare Diseases 
Netherton syndrome

 Gene Information 
Gene Name Spink5
Old Gene Names for Spink5 2310065d10rik , Av238912
Gene Description serine peptidase inhibitor, Kazal type 5 [Source:MGI Symbol;Acc:MGI:1919682]
MGI phenotype Homozygous mutant mice display neonatal lethality, exfoliative erythroderma, and severe dehydration.
Uniprot Name
CCDS Name
Gene GO
peptidase inhibitor activity; perinuclear region of cytoplasm; epidermal lamellar body; cell cortex; cytoplasm; endoplasmic reticulum membrane; endoplasmic reticulum; serine-type endopeptidase inhibitor activity; negative regulation of peptidase activity; protein binding; epidermal cell differentiation; cytosol; negative regulation of proteolysis; regulation of cell adhesion
Homolog in other species SPINK5
Omim http://omim.org/entry/605010
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055561
Chromosome 18
Coordinate 43,996,676     (Assembly: GRCm38)    
Ref Base A
Codon Change Aat/Gat
Var Base G
Zygosity Heterozygous
Read Depth 71
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Position 445
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL01907
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.13
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved