Incidental Mutation 'IGL02486:Nox1'
ID 295434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nox1
Ensembl Gene ENSMUSG00000031257
Gene Name NADPH oxidase 1
Synonyms Nox-1, GP91 phox homolog
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02486
Quality Score
Status
Chromosome X
Chromosomal Location 132987170-133038455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132993560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 433 (G433D)
Ref Sequence ENSEMBL: ENSMUSP00000108900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033610] [ENSMUST00000113275] [ENSMUST00000159259]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033610
AA Change: G482D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000033610
Gene: ENSMUSG00000031257
AA Change: G482D

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ferric_reduct 54 218 1.7e-30 PFAM
Pfam:FAD_binding_8 291 388 3.9e-26 PFAM
Pfam:NAD_binding_6 394 544 8.5e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113275
AA Change: G433D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108900
Gene: ENSMUSG00000031257
AA Change: G433D

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:Ferric_reduct 54 218 3.1e-25 PFAM
Pfam:FAD_binding_8 291 388 2.3e-27 PFAM
Pfam:FAD_binding_6 292 388 4.3e-7 PFAM
Pfam:NAD_binding_6 394 439 2.3e-7 PFAM
Pfam:NAD_binding_6 426 495 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159259
AA Change: G445D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124355
Gene: ENSMUSG00000031257
AA Change: G445D

DomainStartEndE-ValueType
Pfam:Ferric_reduct 16 181 6e-23 PFAM
Pfam:FAD_binding_8 254 351 1.5e-27 PFAM
Pfam:FAD_binding_6 255 351 1.6e-7 PFAM
Pfam:NAD_binding_6 357 507 2.5e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of the NADPH oxidase enzyme, which is a membrane-bound, multisubunit protein. This complex catalyzes the transfer of electrons from NADPH to molecular oxygen to produce superoxide or hydrogen peroxide and may have a role in antimicrobial killing and cell signaling. This protein binds other subunits in order to produce superoxide. In mouse, deficiency of this enzyme may be associated with changes in blood pressure. [provided by RefSeq, Jun 2013]
PHENOTYPE: Male mice hemizygous for one mutation show abnormal blood vessel morphology and physiology with decreased basal systolic blood pressure. Male hemizygotes for two null mutations exhibit abnormal response to angiotensin II. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 111,424,955 (GRCm39) N147K probably benign Het
Abtb3 C A 10: 85,476,419 (GRCm39) P900H probably damaging Het
Bcas1 T C 2: 170,248,318 (GRCm39) D201G probably damaging Het
Bmp1 T A 14: 70,742,216 (GRCm39) D333V possibly damaging Het
Capn6 T C X: 142,587,673 (GRCm39) E535G probably benign Het
Cdin1 T C 2: 115,607,487 (GRCm39) V280A possibly damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Col14a1 T A 15: 55,252,092 (GRCm39) probably benign Het
Daam1 T C 12: 71,993,919 (GRCm39) probably benign Het
Elapor2 T A 5: 9,472,323 (GRCm39) V340E probably benign Het
Eno4 A G 19: 58,934,097 (GRCm39) probably null Het
Fat1 T C 8: 45,478,109 (GRCm39) V2385A probably benign Het
Ffar4 T C 19: 38,102,208 (GRCm39) I281T possibly damaging Het
Flcn C T 11: 59,691,869 (GRCm39) W260* probably null Het
Fry T G 5: 150,414,642 (GRCm39) S496A probably damaging Het
Gk T A X: 84,759,274 (GRCm39) I373F possibly damaging Het
Gpr108 T C 17: 57,542,977 (GRCm39) N528S probably damaging Het
Hey1 T A 3: 8,731,579 (GRCm39) R50W probably damaging Het
Hgf A G 5: 16,807,287 (GRCm39) Y393C probably damaging Het
Hmcn2 A T 2: 31,310,107 (GRCm39) E3260D probably damaging Het
Ift172 A G 5: 31,414,927 (GRCm39) I1365T probably damaging Het
Letmd1 A G 15: 100,372,992 (GRCm39) R31G probably damaging Het
Mak16 T C 8: 31,650,614 (GRCm39) probably benign Het
Mapkapk3 C T 9: 107,166,467 (GRCm39) G26D probably damaging Het
Mphosph8 T C 14: 56,925,844 (GRCm39) V603A possibly damaging Het
Myom1 G T 17: 71,406,939 (GRCm39) probably benign Het
Neb T A 2: 52,172,615 (GRCm39) N1564I possibly damaging Het
Or11h6 T C 14: 50,880,089 (GRCm39) F111S probably damaging Het
Or2n1b T A 17: 38,460,112 (GRCm39) L211Q probably damaging Het
Or51i2 T C 7: 103,689,617 (GRCm39) S205P probably damaging Het
Or52m1 A T 7: 102,289,627 (GRCm39) H58L probably damaging Het
Rcc2 T C 4: 140,437,673 (GRCm39) W135R probably damaging Het
Rgl2 A G 17: 34,154,954 (GRCm39) I205V probably damaging Het
Robo4 G A 9: 37,319,670 (GRCm39) G640E probably damaging Het
Slc26a5 A G 5: 22,051,323 (GRCm39) F64L probably damaging Het
Slc27a2 A G 2: 126,395,270 (GRCm39) T66A probably benign Het
St18 T C 1: 6,890,307 (GRCm39) S580P probably damaging Het
Syt15 G A 14: 33,944,933 (GRCm39) R160K probably damaging Het
Tmem63b A G 17: 45,984,909 (GRCm39) S200P probably damaging Het
Tnks T A 8: 35,318,352 (GRCm39) N841I probably damaging Het
Tnr G A 1: 159,679,664 (GRCm39) probably null Het
Unc13d A G 11: 115,960,632 (GRCm39) probably benign Het
Usp4 T C 9: 108,228,228 (GRCm39) L74P probably damaging Het
Other mutations in Nox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Nox1 APN X 133,008,583 (GRCm39) splice site probably benign
R2059:Nox1 UTSW X 132,995,993 (GRCm39) splice site probably benign
Posted On 2015-04-16