Napsa - SNV Details



 Gene Information 
Gene Name Napsa
Old Gene Names for Napsa Kdap
Gene Description napsin A aspartic peptidase [Source:MGI Symbol;Acc:MGI:109365]
Uniprot Name
CCDS Name
Gene GO
lysosome; surfactant homeostasis; peptidase activity; endopeptidase activity; proteolysis; alveolar lamellar body; aspartic-type endopeptidase activity; extracellular space; membrane protein proteolysis
Homolog in other species NAPSA
Immgen Expression
LOW(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000002204
Chromosome 7
Coordinate 44,586,665     (Assembly: GRCm38)    
Ref Base A
Codon Change tAt/tGt
Var Base G
Zygosity Heterozygous
Read Depth 107
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 376
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL01630
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000002274:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Aspartic peptidase domain Peptidase_aspartic IPR021109 ENSMUSP00000002274 Superfamily 1
397 Description available Search pathways
Aspartic peptidase Peptidase_A1 IPR001461 ENSMUSP00000002274 Pfam 72
388 Description available Search pathways

 Availability Details 
Availability Cryopreserved