Efcab5 - SNV Details



 Gene Information 
Gene Name Efcab5
Old Gene Names for Efcab5 4930563a03rik
Gene Description EF-hand calcium binding domain 5 [Source:MGI Symbol;Acc:MGI:2442440]
Uniprot Name
CCDS Name
Gene GO
cellular_component; biological_process; calcium ion binding; molecular_function
Homolog in other species EFCAB5
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050944
Chromosome 11
Coordinate 77,104,313     (Assembly: GRCm38)    
Ref Base A
Codon Change aTt/aAt
Var Base T
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.62
T:V0.38
Amino Acid Position 1144
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02270
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved