Tmed9 - SNV Details



 Gene Information 
Gene Name Tmed9
Old Gene Names for Tmed9 2400003b06rik
Gene Description transmembrane emp24 protein transport domain containing 9 [Source:MGI Symbol;Acc:MGI:1914761]
Uniprot Name
CCDS Name
Gene GO
syntaxin binding; endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi membrane; protein transport; endoplasmic reticulum membrane; endoplasmic reticulum; Golgi organization; protein binding; integral component of membrane; extracellular vesicular exosome; transport; endoplasmic reticulum-Golgi intermediate compartment; COPI coating of Golgi vesicle; positive regulation of organelle organization; Golgi apparatus
Homolog in other species TMED9
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058569
Chromosome 13
Coordinate 55,596,878     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:R0.49
T:V0.51
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL03323
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging

 Availability Details 
Availability