Adk - SNV Details



 Human Rare Diseases 
Hypermethioninemia encephalopathy due to adenosine kinase deficiency

 Gene Information 
Gene Name Adk
Old Gene Names for Adk 2310026j05rik , 5033405d03rik , Ai255373 , Ai987814
Gene Description adenosine kinase [Source:MGI Symbol;Acc:MGI:87930]
MGI phenotype Homozygous mutation of this gene results in death before 14 days of age, growth retardation, liver abnormalities, apnea, and impaired temperature regulation.
Uniprot Name
CCDS Name
Gene GO
dATP biosynthetic process; type B pancreatic cell proliferation; circadian regulation of gene expression; metal ion binding; adenosine kinase activity; positive regulation of cardiac muscle hypertrophy; positive regulation of T cell proliferation; nucleus; cytosol; phosphotransferase activity
alcohol group as acceptor; adenosine metabolic process; ATP binding; purine ribonucleoside salvage; AMP salvage
Homolog in other species ADK
Omim http://omim.org/entry/102750
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
HIGH(LOWER IN FERTILIZEDEGG, OOCYTE, MACROPHAGE_7HRLPS, SPLEEN, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039197
Chromosome 14
Coordinate 21,103,854     (Assembly: GRCm38)    
Ref Base G
Codon Change Gaa/Aaa
Var Base A
Zygosity Heterozygous
Read Depth 64
Allele Frequency
G:R0.45
A:V0.55
Amino Acid Position 58
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL01701
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.8
Polyphen Prediction Possibly damaging
Sift Score 0.03
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000047665:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Carbohydrate kinase PfkB PfkB_dom IPR011611 ENSMUSP00000047665 Pfam 43
355 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved