Sema4c - SNV Details



 Gene Information 
Gene Name Sema4c
Old Gene Names for Sema4c Semai , Ai426163
Gene Description sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C [Source:MGI Symbol;Acc:MGI:109252]
MGI phenotype Mice homozygous for a targeted mutation exhibit exencephaly, neonatal lethality, and abnormal cerebellum morphology.
Uniprot Name
CCDS Name
Gene GO
postsynaptic membrane; muscle cell differentiation; membrane; integral to membrane; receptor activity; synaptic vesicle membrane; protein binding; cerebellum development; cell junction; neural tube closure; positive regulation of stress-activated MAPK cascade; plasma membrane; semaphorin-plexin signaling pathway; cell migration in hindbrain; multicellular organismal development; postsynaptic density
Homolog in other species SEMA4C
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026121
Chromosome 1
Coordinate 36,550,203     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gAg
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.64
T:V0.36
Amino Acid Position 614
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02282
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved