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 54,404,049     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cGg
Var Base C
Zygosity Heterozygous
Read Depth 50
Allele Frequency
A:R0.60
C:V0.40
Amino Acid Position 998
Amino Acid Change L->R (Leucine -> Arginine)
Sample ID IGL02210
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

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

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved