|Institutional Source||Beutler Lab|
|Gene Name||NAD(P)H dehydrogenase, quinone 1|
|Synonyms||Dia4, NQO1, NAD(P)H dehydrogenase (quinone), Ox1, QR1, Ox-1, NMO1, Nmor1|
|Is this an essential gene?||Probably non essential (E-score: 0.132)|
|Stock #||R4832 (G1)|
|Chromosomal Location||107388225-107403206 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 107388845 bp|
|Amino Acid Change||Aspartic acid to Histidine at position 267 (D267H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003947 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003947]|
|PDB Structure||CRYSTAL STRUCTURE OF MOUSE NAD[P]H-QUINONE OXIDOREDUCTASE [X-RAY DIFFRACTION]|
|Predicted Effect||probably benign
AA Change: D267H
PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: D267H
|Meta Mutation Damage Score||0.1689|
|Coding Region Coverage||
|Validation Efficiency||98% (106/108)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted null mice display increased toxicity to menadione, insulin resistance, an altered intracellular redox status, as well as decreased pyridine nucleotide synthesis, gluconeogenesis and fatty acid metabolism, leading to reduced quantities of abdominal adipose tissue. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nqo1||
(F):5'- AGAGTATTTCCAGCTCGCTTC -3'
(R):5'- AACGTCTGGAAACCGTCTGG -3'
(F):5'- CCCTGAGGCTCCTAATCTGAC -3'
(R):5'- GGAGGAGACCCCACTCTATTTTG -3'