Incidental Mutation 'R4420:Nqo1'
ID 327052
Institutional Source Beutler Lab
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
MMRRC Submission 041141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4420 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108114857-108129838 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 108118749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000003947
SMART Domains Protein: ENSMUSP00000003947
Gene: ENSMUSG00000003849

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (53/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef17 G A 7: 100,531,515 (GRCm39) probably benign Het
Atp1b1 T C 1: 164,281,127 (GRCm39) T53A probably damaging Het
Carmil3 A G 14: 55,731,045 (GRCm39) Q104R probably damaging Het
Casz1 T G 4: 149,033,375 (GRCm39) N1382K possibly damaging Het
Chfr T A 5: 110,318,746 (GRCm39) C585* probably null Het
Chp2 T C 7: 121,821,161 (GRCm39) F174S probably damaging Het
Dclre1c A T 2: 3,434,782 (GRCm39) probably null Het
Dnah6 A G 6: 73,168,462 (GRCm39) V487A probably benign Het
Dnah9 T C 11: 66,009,575 (GRCm39) R771G probably benign Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Elp3 G A 14: 65,818,240 (GRCm39) A140V probably damaging Het
Fbrsl1 T C 5: 110,526,852 (GRCm39) H387R possibly damaging Het
Gnat3 T C 5: 18,204,799 (GRCm39) S151P probably damaging Het
Gucy1a2 T A 9: 3,634,640 (GRCm39) L228H probably damaging Het
Gzmn A T 14: 56,403,463 (GRCm39) H215Q probably benign Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Hsf5 T G 11: 87,548,130 (GRCm39) H604Q probably benign Het
Hus1 T C 11: 8,950,133 (GRCm39) E196G probably damaging Het
Il12rb2 G T 6: 67,293,394 (GRCm39) probably null Het
Irs1 T C 1: 82,266,171 (GRCm39) S682G possibly damaging Het
Jcad T C 18: 4,676,032 (GRCm39) S1265P probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Matk A G 10: 81,098,291 (GRCm39) S361G possibly damaging Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Nceh1 A G 3: 27,295,798 (GRCm39) D353G probably damaging Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Pcdh7 T C 5: 58,286,512 (GRCm39) I1196T probably benign Het
Pla2g4d A G 2: 120,114,644 (GRCm39) V29A probably benign Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Prdx5 C A 19: 6,885,332 (GRCm39) probably null Het
Psme4 C T 11: 30,762,028 (GRCm39) T456I possibly damaging Het
Ptprd A T 4: 75,957,614 (GRCm39) S923R possibly damaging Het
Samd12 G A 15: 53,723,655 (GRCm39) R13W probably damaging Het
Slc35f4 A T 14: 49,551,034 (GRCm39) probably benign Het
Smc1b A G 15: 84,997,031 (GRCm39) Y530H probably damaging Het
Spata2l T C 8: 123,960,768 (GRCm39) T174A possibly damaging Het
Sugct C T 13: 17,627,130 (GRCm39) C241Y probably damaging Het
Tarbp1 G T 8: 127,173,819 (GRCm39) A965D possibly damaging Het
Tas1r3 A G 4: 155,946,789 (GRCm39) V272A probably damaging Het
Tas2r117 T A 6: 132,780,312 (GRCm39) L150* probably null Het
Trip10 C T 17: 57,562,448 (GRCm39) P322L probably benign Het
Wdfy3 A C 5: 102,058,850 (GRCm39) H1487Q probably damaging Het
Wdr95 G A 5: 149,456,131 (GRCm39) V8M probably damaging Het
Zc3h15 C A 2: 83,488,356 (GRCm39) A98E probably damaging Het
Zfp763 T G 17: 33,237,455 (GRCm39) K563N probably benign Het
Zmym2 G A 14: 57,194,335 (GRCm39) D1198N probably damaging Het
Zp1 C T 19: 10,892,124 (GRCm39) probably null Het
Other mutations in Nqo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Nqo1 APN 8 108,115,587 (GRCm39) missense probably benign 0.21
IGL02711:Nqo1 APN 8 108,119,563 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTGAGCAGAAGAAACCATCCTG -3'
(R):5'- ATGTCAGTCAGAGGGTGTGC -3'

Sequencing Primer
(F):5'- GTCCAAACCATCCTGTCA -3'
(R):5'- AGGGTGTGCAGCTGAGC -3'
Posted On 2015-07-07