Ndufa9 - SNV Details



 Human Rare Diseases 
Isolated NADH-CoQ reductase deficiency

 Gene Information 
Gene Name Ndufa9
Old Gene Names for Ndufa9 1010001n11rik
Gene Description NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 [Source:MGI Symbol;Acc:MGI:1913358]
Uniprot Name
CCDS Name
Gene GO
oxidation-reduction process; mitochondrion; oxidoreductase activity
acting on the CH-OH group of donors
NAD or NADP as acceptor; catalytic activity; cellular metabolic process; mitochondrial inner membrane; steroid biosynthetic process; nucleotide binding; 3-beta-hydroxy-delta5-steroid dehydrogenase activity; respiratory chain; mitochondrial matrix; electron transport chain; coenzyme binding
Homolog in other species NDUFA9
Omim http://omim.org/entry/603834
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
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000000399
Chromosome 6
Coordinate 126,844,785     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 35
Allele Frequency
A:R0.60
G:V0.40
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02167
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved