Plxdc1 - SNV Details



 Gene Information 
Gene Name Plxdc1
Gene Description plexin domain containing 1 [Source:MGI Symbol;Acc:MGI:1919574]
Uniprot Name
CCDS Name
Gene GO
tight junction; spinal cord development; membrane; integral to membrane; receptor activity; cytoplasm; protein binding; neuronal cell body; plasma membrane; dendrite; multicellular organismal development
Homolog in other species PLXDC1
Omim http://omim.org/entry/606826
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, THYMUS, LYMPHNODE, IMM.G2)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000017417
Chromosome 11
Coordinate 97,954,778     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 36
Allele Frequency
A:R0.53
T:V0.44
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02490
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 59 Other Mutations

 Predictions 
Polyphen Score 0.55
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved