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 44,012,867     (Assembly: GRCm38)    
Ref Base T
Codon Change aTg/aAg
Var Base A
Zygosity Heterozygous
Read Depth 40
Allele Frequency
T:R0.55
A:V0.45
Amino Acid Position 776
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL02237
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.36
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved