Megf8 - SNV Details



 Human Rare Diseases 
Carpenter syndrome

 Gene Information 
Gene Name Megf8
Old Gene Names for Megf8 Aw049492 , Egfl4
Gene Description multiple EGF-like-domains 8 [Source:MGI Symbol;Acc:MGI:2446294]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; receptor activity; protein binding; calcium ion binding; multicellular organismal development
Homolog in other species MEGF8
Omim http://omim.org/entry/604267
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045039
Chromosome 7
Coordinate 25,337,900     (Assembly: GRCm38)    
Ref Base G
Codon Change Gtg/Atg
Var Base A
Zygosity Heterozygous
Read Depth 25
Allele Frequency
G:R0.48
A:V0.52
Amino Acid Position 742
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL02301
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.52
Polyphen Prediction Possibly damaging
Sift Score 0.09
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved