Zzef1 - SNV Details



 Gene Information 
Gene Name Zzef1
Old Gene Names for Zzef1 Bc051585 , C130099l13rik , 8430405d05rik , C85424
Gene Description zinc finger, ZZ-type with EF hand domain 1 [Source:MGI Symbol;Acc:MGI:2444286]
Uniprot Name
CCDS Name
Gene GO
zinc ion binding; cellular_component; biological_process; calcium ion binding; molecular_function
Homolog in other species ZZEF1
Immgen Expression
HIGH(LOWER IN DC.LC.SK)
Gnf Expression
LOW
MEDIAN
MEDIAN
MEDIAN(HIGH IN IMM.G1, IMM.G3)
MEDIAN(HIGH IN LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055670
Chromosome 11
Coordinate 72,913,112     (Assembly: GRCm38)    
Ref Base T
Codon Change aTt/aAt
Var Base A
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:R0.48
A:V0.50
Amino Acid Position 2531
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02110
Median Base Quality 37
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
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved