Saa2 - SNV Details



 Gene Information 
Gene Name Saa2
Old Gene Names for Saa2 Aw111173 , Saa-2
Gene Description serum amyloid A 2 [Source:MGI Symbol;Acc:MGI:98222]
MGI phenotype The CE/J strain produces a mutant form of Saa2 and is not susceptible to amyloidosis, as are mice of most other inbred strains. M. caroli, M. spretus and M.m. Czech produce variant Saa2 isoforms and M.m. Czech is also reistant to amyloidosis.
Uniprot Name
CCDS Name
Gene GO
high-density lipoprotein particle; response to stilbenoid; protein binding; extracellular region; acute-phase response
Omim http://omim.org/entry/104751
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN MAMMARYGLAND.LACT)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000057465
Chromosome 7
Coordinate 46,753,472     (Assembly: GRCm38)    
Ref Base A
Codon Change gAt/gGt
Var Base G
Zygosity Heterozygous
Read Depth 83
Allele Frequency
A:R0.54
G:V0.45
Amino Acid Position 49
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01329
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.41
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000075365:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Serum amyloid A protein Serum_amyloid_A IPR000096 ENSMUSP00000075365 Smart 21
122 Description available Search pathways
Serum amyloid A protein Serum_amyloid_A IPR000096 ENSMUSP00000075365 PIRSF 1
122 Description available Search pathways
Serum amyloid A protein Serum_amyloid_A IPR000096 ENSMUSP00000075365 Pfam 22
122 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved , Line Propagating