Myo18a - SNV Details



 Gene Information 
Gene Name Myo18a
Gene Description myosin XVIIIA [Source:MGI Symbol;Acc:MGI:2667185]
Uniprot Name
CCDS Name
Gene GO
actomyosin structure organization; trans-Golgi network; membrane; Golgi membrane; motor activity; termination of G-protein coupled receptor signaling pathway; myosin complex; poly(A) RNA binding; Golgi organization; actomyosin; metabolic process; protein binding; positive regulation of protein secretion; ADP binding; cell migration; cytoskeleton; endoplasmic reticulum-Golgi intermediate compartment; actin filament binding; ATP binding; Golgi vesicle budding
Homolog in other species MYO18A
Omim http://omim.org/entry/609517
Immgen Expression
MEDIAN
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000631
Chromosome 11
Coordinate 77,864,786     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02869
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 96 Other Mutations

 Predictions 
Polyphen Score 0.7
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved