Dmxl1 - SNV Details



 Gene Information 
Gene Name Dmxl1
Gene Description Dmx-like 1 [Source:MGI Symbol;Acc:MGI:2443926]
Uniprot Name
CCDS Name
Gene GO
biological_process
cellular_component
molecular_function
protein binding
Homolog in other species DMXL1
Omim http://omim.org/entry/605671
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
LOW/MEDIAN
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037416
Chromosome 18
Coordinate 49,917,668     (Assembly: GRCm38)    
Ref Base T
Codon Change gaT/gaG
Var Base G
Zygosity Heterozygous
Read Depth 201
Allele Frequency
T:0.69
G:0.31
Amino Acid Position 2454
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL00740
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 10 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0.19
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved