Plxna4 - SNV Details



 Gene Information 
Gene Name Plxna4
Gene Description plexin A4 [Source:MGI Symbol;Acc:MGI:2179061]
MGI phenotype Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels.
Uniprot Name
CCDS Name
Gene GO
semaphorin receptor activity; membrane; nervous system development; integral to membrane; receptor activity; sympathetic nervous system development; signal transduction; vagus nerve morphogenesis; cranial nerve morphogenesis; glossopharyngeal nerve morphogenesis; intracellular; facial nerve morphogenesis; protein binding; regulation of axon extension involved in axon guidance; chemorepulsion of branchiomotor axon; anterior commissure morphogenesis; axon guidance; neuron projection morphogenesis; regulation of negative chemotaxis; plasma membrane; semaphorin-plexin signaling pathway; postganglionic parasympathetic nervous system development; multicellular organismal development; trigeminal nerve morphogenesis
Homolog in other species PLXNA4A
Omim http://omim.org/entry/604280
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
LOW
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029765
Chromosome 6
Coordinate 32,310,478     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Ttc
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 495
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL01753
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.26
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved