Spink12 - SNV Details



 Gene Information 
Gene Name Spink12
Old Gene Names for Spink12 9230117e20rik
Gene Description serine peptidase inhibitor, Kazal type 11 [Source:MGI Symbol;Acc:MGI:1925492]
Uniprot Name
CCDS Name
Gene GO
serine-type endopeptidase inhibitor activity; protein binding; cellular_component; extracellular region; negative regulation of proteolysis
Homolog in other species SPINK9
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061144
Chromosome 18
Coordinate 44,107,760     (Assembly: GRCm38)    
Ref Base T
Codon Change gTg/gAg
Var Base A
Zygosity Heterozygous
Read Depth 26
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 71
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL01694
Median Base Quality 35.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000080025:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Kazal domain Kazal_dom IPR002350 ENSMUSP00000080025 Pfam 64
105 Description available Search pathways
Kazal domain Kazal_dom IPR002350 ENSMUSP00000080025 Pfam 50
105 Description available Search pathways
Kazal domain Kazal_dom IPR002350 ENSMUSP00000080025 Smart 49
105 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved