Unc13c - SNV Details



 Gene Information 
Gene Name Unc13c
Old Gene Names for Unc13c Unc13h3 , 1500037o19rik , Au019458 , D9ertd414e
Gene Description unc-13 homolog C (C. elegans) [Source:MGI Symbol;Acc:MGI:2149021]
MGI phenotype Homozygous mutant mice demonstrate an impaired ability to learn complex motor tasks, putatively due to an observed increase in paired-pulse facilitation.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; synaptic transmission; cytoplasm; metal ion binding; protein binding; cell junction; non-kinase phorbol ester receptor activity; plasma membrane; exocytosis; presynaptic membrane
Homolog in other species UNC13C
Omim http://omim.org/entry/614568
Immgen Expression
LOW
LOW
LOW
LOW
LOW
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
MEDIAN
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE)
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, SPINALCORDLOWER, SPINALCORDUPPER, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062151
Chromosome 9
Coordinate 73,933,197     (Assembly: GRCm38)    
Ref Base T
Codon Change tAc/tGc
Var Base C
Zygosity Heterozygous
Read Depth 84
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Position 124
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL01123
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved