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; biological_process
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 54,445,433     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtg/Atg
Var Base T
Zygosity Heterozygous
Read Depth 26
Allele Frequency
C:R0.58
T:V0.42
Amino Acid Position 621
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL02238
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

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

 Availability Details 
Availability Cryopreserved , Line Propagating