Dmxl2 - SNV Details



 Gene Information 
Gene Name Dmxl2
Old Gene Names for Dmxl2 6430411k14rik , E130119p06rik
Gene Description Dmx-like 2 [Source:MGI Symbol;Acc:MGI:2444630]
Uniprot Name
CCDS Name
Gene GO
synaptic vesicle membrane; protein binding; cell junction; synaptic vesicle; Rab GTPase binding; biological_process; extracellular space
Homolog in other species DMXL2
Omim http://omim.org/entry/612186
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC GROUP, TGD.SP)
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041268
Chromosome 9
Coordinate 54,416,945     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 32
Allele Frequency
A:R0.56
T:V0.44
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL02668
Median Base Quality 39.5
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved