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 54,415,475     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 37
Allele Frequency
T:R0.59
C:V0.40
Amino Acid Position 1542
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01346
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000113705:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
RAVE complex protein Rav1 C-terminal Rav1p_C IPR022033 ENSMUSP00000113705 Pfam 1493
1849 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved