Incidental Mutation 'IGL02711:Nqo1'
ID 304581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nqo1
Ensembl Gene ENSMUSG00000003849
Gene Name NAD(P)H dehydrogenase, quinone 1
Synonyms NAD(P)H dehydrogenase (quinone), Nmor1, Ox1, Dia4, NMO1, Ox-1, NQO1, QR1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02711
Quality Score
Status
Chromosome 8
Chromosomal Location 108114857-108129838 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108119563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 30 (L30Q)
Ref Sequence ENSEMBL: ENSMUSP00000003947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003947]
AlphaFold Q64669
PDB Structure CRYSTAL STRUCTURE OF MOUSE NAD[P]H-QUINONE OXIDOREDUCTASE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000003947
AA Change: L30Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003947
Gene: ENSMUSG00000003849
AA Change: L30Q

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,773,245 (GRCm39) probably null Het
Adamts10 T A 17: 33,757,246 (GRCm39) M400K probably damaging Het
Adamts17 G A 7: 66,701,788 (GRCm39) probably benign Het
Adh5 A G 3: 138,160,434 (GRCm39) K323E probably damaging Het
Angptl2 T C 2: 33,118,255 (GRCm39) W10R probably benign Het
Arhgap15 T C 2: 44,006,674 (GRCm39) F264L possibly damaging Het
Atp6v1g3 T A 1: 138,211,419 (GRCm39) L33Q probably damaging Het
Baz2b A T 2: 59,747,849 (GRCm39) probably benign Het
Capn11 A G 17: 45,943,341 (GRCm39) F611S probably damaging Het
Cep152 T A 2: 125,405,862 (GRCm39) T1557S possibly damaging Het
Cep76 A T 18: 67,771,406 (GRCm39) S75R probably benign Het
Cps1 A G 1: 67,251,676 (GRCm39) probably benign Het
Dbf4 G T 5: 8,458,235 (GRCm39) A199E probably benign Het
Gldc C T 19: 30,122,546 (GRCm39) probably null Het
Hspa14 G A 2: 3,503,557 (GRCm39) A117V probably benign Het
Igkv4-80 G A 6: 68,993,801 (GRCm39) P30L probably damaging Het
Itga2b A T 11: 102,356,551 (GRCm39) W292R possibly damaging Het
Kansl1 A T 11: 104,226,401 (GRCm39) S982T probably damaging Het
Klhdc7b A T 15: 89,272,246 (GRCm39) K1043* probably null Het
Kmt2a A T 9: 44,735,820 (GRCm39) probably benign Het
Krt86 T C 15: 101,371,543 (GRCm39) Y38H probably damaging Het
Lingo4 T C 3: 94,310,700 (GRCm39) I546T probably benign Het
Lrrk1 A G 7: 65,980,515 (GRCm39) S222P probably damaging Het
Lrrk2 T C 15: 91,570,025 (GRCm39) V178A possibly damaging Het
Maml2 T C 9: 13,531,359 (GRCm39) V191A probably benign Het
Msh3 T C 13: 92,487,819 (GRCm39) T133A probably damaging Het
Nck1 T C 9: 100,390,673 (GRCm39) D12G probably damaging Het
Nox4 T C 7: 87,046,076 (GRCm39) Y572H probably damaging Het
Or5ak24 A T 2: 85,261,083 (GRCm39) V30E probably damaging Het
Oxr1 A G 15: 41,517,067 (GRCm39) probably benign Het
Pcare T C 17: 72,056,377 (GRCm39) D1100G probably benign Het
Pcdhb10 A C 18: 37,545,779 (GRCm39) D285A possibly damaging Het
Pclo A G 5: 14,572,322 (GRCm39) N569S unknown Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Ripor3 T G 2: 167,848,200 (GRCm39) probably benign Het
Rpe65 C A 3: 159,328,514 (GRCm39) H441N possibly damaging Het
St14 A G 9: 31,001,196 (GRCm39) V845A probably benign Het
Tmem116 T A 5: 121,625,804 (GRCm39) probably benign Het
Tnfrsf11b A T 15: 54,119,532 (GRCm39) D147E probably benign Het
Ttn C A 2: 76,560,466 (GRCm39) G27566* probably null Het
Zscan18 G T 7: 12,509,044 (GRCm39) probably benign Het
Other mutations in Nqo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Nqo1 APN 8 108,115,587 (GRCm39) missense probably benign 0.21
R2289:Nqo1 UTSW 8 108,119,630 (GRCm39) missense probably benign 0.42
R3011:Nqo1 UTSW 8 108,115,743 (GRCm39) missense probably benign
R4419:Nqo1 UTSW 8 108,118,749 (GRCm39) splice site probably null
R4420:Nqo1 UTSW 8 108,118,749 (GRCm39) splice site probably null
R4659:Nqo1 UTSW 8 108,117,676 (GRCm39) critical splice donor site probably null
R4832:Nqo1 UTSW 8 108,115,477 (GRCm39) missense probably benign 0.27
R4955:Nqo1 UTSW 8 108,115,489 (GRCm39) missense probably benign
R6018:Nqo1 UTSW 8 108,115,500 (GRCm39) missense probably damaging 1.00
R6320:Nqo1 UTSW 8 108,115,582 (GRCm39) missense probably benign 0.00
R7184:Nqo1 UTSW 8 108,119,279 (GRCm39) missense probably damaging 1.00
R7301:Nqo1 UTSW 8 108,119,280 (GRCm39) missense probably damaging 1.00
R7473:Nqo1 UTSW 8 108,129,729 (GRCm39) start gained probably benign
Posted On 2015-04-16