Megf6 - SNV Details



 Gene Information 
Gene Name Megf6
Old Gene Names for Megf6 2600001p17rik , Egfl3
Gene Description multiple EGF-like-domains 6 [Source:MGI Symbol;Acc:MGI:1919351]
Uniprot Name
CCDS Name
Gene GO
protein binding; cellular_component; extracellular region; biological_process; calcium ion binding
Homolog in other species MEGF6
Omim http://omim.org/entry/604266
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
HIGH
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000057751
Chromosome 4
Coordinate 154,270,692     (Assembly: GRCm38)    
Ref Base A
Codon Change gAt/gGt
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Position 1488
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02172
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.05
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved