Unc5a - SNV Details



 Gene Information 
Gene Name Unc5a
Old Gene Names for Unc5a Unc5h1
Gene Description unc-5 homolog A (C. elegans) [Source:MGI Symbol;Acc:MGI:894682]
MGI phenotype Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord.
Uniprot Name
CCDS Name
Gene GO
apoptosis
axon guidance
cytosol
integral to membrane
multicellular organismal development
netrin receptor activity
plasma membrane
protein binding
receptor activity
signal transduction
Homolog in other species UNC5A
Omim http://omim.org/entry/607869
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025876
Chromosome 13
Coordinate 55,004,514     (Assembly: GRCm38)    
Ref Base G
Codon Change Gaa/Aaa
Var Base A
Zygosity Heterozygous
Read Depth 23
Allele Frequency
G:0.48
A:0.52
Amino Acid Position 797
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL00924
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.64
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved