Aldh7a1 - SNV Details



 Human Rare Diseases 
Pyridoxine-dependent epilepsy

 Gene Information 
Gene Name Aldh7a1
Old Gene Names for Aldh7a1 Atq1 , D18wsu181e
Gene Description aldehyde dehydrogenase family 7, member A1 [Source:MGI Symbol;Acc:MGI:108186]
MGI phenotype Mice homozygous for disruptions in this gene display a normal phenotuype.
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; L-aminoadipate-semialdehyde dehydrogenase activity; glycine betaine biosynthetic process from choline; oxidoreductase activity; cytoplasm; oxidoreductase activity
acting on the aldehyde or oxo group of donors
NAD or NADP as acceptor; metabolic process; protein binding; nucleus; cytosol; extracellular vesicular exosome; betaine-aldehyde dehydrogenase activity
Homolog in other species ALDH7A1
Omim http://omim.org/entry/107323
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000053644
Chromosome 18
Coordinate 56,542,216     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 59
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02887
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 87 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved