Incidental Mutation 'IGL01134:Nqo1'
ID51811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nqo1
Ensembl Gene ENSMUSG00000003849
Gene NameNAD(P)H dehydrogenase, quinone 1
SynonymsDia4, NQO1, NAD(P)H dehydrogenase (quinone), Ox1, QR1, Ox-1, NMO1, Nmor1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL01134
Quality Score
Status
Chromosome8
Chromosomal Location107388225-107403206 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107388955 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 230 (D230G)
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
Transcript: ENSMUST00000003947
AA Change: D230G

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003947
Gene: ENSMUSG00000003849
AA Change: D230G

DomainStartEndE-ValueType
Pfam:FMN_red 4 174 6e-11 PFAM
Pfam:Flavodoxin_2 4 212 9.7e-52 PFAM
low complexity region 240 251 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Acaca T G 11: 84,251,279 H637Q probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap6 C A 12: 52,937,217 A848E probably damaging Het
Cxxc4 A G 3: 134,240,659 I334V probably null Het
Cyp2b13 T A 7: 26,081,700 I179N probably damaging Het
Cyp2d40 C A 15: 82,760,901 A183S unknown Het
Cyp2g1 A G 7: 26,809,831 N110S probably benign Het
F5 A T 1: 164,191,979 R674S possibly damaging Het
Fnip2 G T 3: 79,512,503 Y155* probably null Het
Fut9 G T 4: 25,620,446 Q123K probably benign Het
Gda A G 19: 21,417,065 S143P probably damaging Het
Gpr162 T C 6: 124,858,857 probably null Het
Hsf2bp A G 17: 31,987,404 L251S probably damaging Het
Hsh2d A T 8: 72,193,531 D24V probably damaging Het
Htr1f T A 16: 64,926,138 T264S probably benign Het
Med12l G A 3: 59,042,275 E151K possibly damaging Het
Mgat3 C A 15: 80,212,176 N401K probably benign Het
Mmp27 T G 9: 7,573,297 M130R probably benign Het
Mroh2b T A 15: 4,915,152 S412T probably benign Het
Mrps9 A G 1: 42,903,397 I338M probably damaging Het
Mtmr4 C T 11: 87,604,067 T395M probably damaging Het
Nlrp9b A G 7: 20,023,187 I116M probably benign Het
Pcnx2 C T 8: 125,863,150 V795I probably benign Het
Pde8a G A 7: 81,319,078 R449Q possibly damaging Het
Scn9a A G 2: 66,504,968 Y1226H probably damaging Het
Sema3e A G 5: 14,252,770 R770G probably damaging Het
Smr2 T C 5: 88,108,519 S19P probably damaging Het
Trank1 T C 9: 111,391,781 S2529P probably benign Het
Uspl1 T A 5: 149,204,293 F367L probably damaging Het
Vps41 A G 13: 18,866,150 S838G probably benign Het
Ythdf2 A T 4: 132,205,478 F124I probably damaging Het
Other mutations in Nqo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02711:Nqo1 APN 8 107392931 missense probably damaging 1.00
R2289:Nqo1 UTSW 8 107392998 missense probably benign 0.42
R3011:Nqo1 UTSW 8 107389111 missense probably benign
R4419:Nqo1 UTSW 8 107392117 splice site probably null
R4420:Nqo1 UTSW 8 107392117 splice site probably null
R4659:Nqo1 UTSW 8 107391044 critical splice donor site probably null
R4832:Nqo1 UTSW 8 107388845 missense probably benign 0.27
R4955:Nqo1 UTSW 8 107388857 missense probably benign
R6018:Nqo1 UTSW 8 107388868 missense probably damaging 1.00
R6320:Nqo1 UTSW 8 107388950 missense probably benign 0.00
R7184:Nqo1 UTSW 8 107392647 missense probably damaging 1.00
R7301:Nqo1 UTSW 8 107392648 missense probably damaging 1.00
R7473:Nqo1 UTSW 8 107403097 start gained probably benign
Posted On2013-06-21