Anxa8 - SNV Details



 Gene Information 
Gene Name Anxa8
Old Gene Names for Anxa8 Ai466995
Gene Description annexin A8 [Source:MGI Symbol;Acc:MGI:1201374]
Uniprot Name
CCDS Name
Gene GO
calcium-dependent phospholipid binding; blood coagulation; calcium ion binding
Homolog in other species ANXA8L1
Omim http://omim.org/entry/602396
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021950
Chromosome 14
Coordinate 34,093,414     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 60
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Position 150
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02675
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000022519:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Annexin Annexin IPR001464 ENSMUSP00000022519 Superfamily 11
326 Description available Search pathways

 Availability Details 
Availability Cryopreserved