A2m - SNV Details



 Gene Information 
Gene Name A2m
Old Gene Names for A2m Ai893533
Gene Description alpha-2-macroglobulin [Source:MGI Symbol;Acc:MGI:2449119]
Uniprot Name
CCDS Name
Gene GO
negative regulation of complement activation
lectin pathway; peptidase inhibitor activity; growth factor binding; enzyme binding; serine-type endopeptidase inhibitor activity; protein binding; interleukin-1 binding; stem cell differentiation; tumor necrosis factor binding; interleukin-8 binding; extracellular region; endopeptidase inhibitor activity; extracellular space; female pregnancy
Homolog in other species A2M
Omim http://omim.org/entry/103950
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030111
Chromosome 6
Coordinate 121,649,895     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgc/Agc
Var Base A
Zygosity Heterozygous
Read Depth 42
Allele Frequency
T:R0.40
A:V0.60
Amino Acid Position 569
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL02066
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 60 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000032203:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Alpha-2-macroglobulin, N-terminal 2 A2M_N_2 IPR011625 ENSMUSP00000032203 Pfam 466
612 Description available Search pathways

 Availability Details 
Availability Cryopreserved