Incidental Mutation 'R2289:Nqo1'
| ID |
244215 |
| 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 |
040288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R2289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
108114857-108129838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108119630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 8
(I8V)
|
| 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 benign
Transcript: ENSMUST00000003947
AA Change: I8V
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003947
Gene: ENSMUSG00000003849
AA Change: I8V
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
| Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
| Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
| Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
| Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
| Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
| Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
| Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
| Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
| Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
| Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
| Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nqo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCCTTCAGCTCACCTG -3'
(R):5'- AACTGTAGATTTTCAGATGAAAGACA -3'
Sequencing Primer
(F):5'- CCTGTTGGGTAGCAAGAGC -3'
(R):5'- GACATTTAGTTGATAATGCTAGCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation