Alkbh8 - SNV Details



 Gene Information 
Gene Name Alkbh8
Old Gene Names for Alkbh8 9430088n01rik , 4930562c03rik , 8030431d03rik
Gene Description alkB, alkylation repair homolog 8 (E. coli) [Source:MGI Symbol;Acc:MGI:1914917]
MGI phenotype Homozygous mutants show no obvious phenotype at 20 months of age.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; tRNA (uracil) methyltransferase activity; oxidoreductase activity; RNA binding; cytoplasm; tRNA methylation; metal ion binding; oxidoreductase activity
acting on paired donors
with incorporation or reduction of molecular oxygen
2-oxoglutarate as one donor
and incorporation of one atom each of oxygen into both donors; metabolic process; protein binding; nucleus; cytosol; response to DNA damage stimulus; nucleotide binding; microtubule cytoskeleton; methyltransferase activity; nucleic acid binding
Homolog in other species ALKBH8
Omim http://omim.org/entry/613306
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025899
Chromosome 9
Coordinate 3,385,354     (Assembly: GRCm38)    
Ref Base A
Codon Change Agg/Ggg
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Position 584
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL01419
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 62 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved