Serpina1a - SNV Details



 Gene Information 
Gene Name Serpina1a
Old Gene Names for Serpina1a Aat-2 , Spi1-1 , Aat2
Gene Description serine (or cysteine) peptidase inhibitor, clade A, member 1A [Source:MGI Symbol;Acc:MGI:891971]
Uniprot Name
CCDS Name
Gene GO
protein N-linked glycosylation; response to peptide hormone stimulus; serine-type endopeptidase inhibitor activity; protein binding; response to cytokine stimulus; extracellular region; regulation of proteolysis; negative regulation of endopeptidase activity; acute-phase response
Homolog in other species SERPINA1
Immgen Expression
LOW
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066366
Chromosome 12
Coordinate 103,854,706     (Assembly: GRCm38)    
Ref Base C
Codon Change Gga/Aga
Var Base T
Zygosity Heterozygous
Read Depth 83
Allele Frequency
C:R0.60
T:V0.40
Amino Acid Position 338
Amino Acid Change G->R (Glycine -> Arginine)
Sample ID IGL02159
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved