Incidental Mutation 'IGL02428:Nox1'
ID 293016
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 # IGL02428
Quality Score
Status
Chromosome X
Chromosomal Location 132987170-133038455 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 133008583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033610] [ENSMUST00000113275] [ENSMUST00000159231] [ENSMUST00000159259] [ENSMUST00000162833]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033610
SMART Domains Protein: ENSMUSP00000033610
Gene: ENSMUSG00000031257

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 benign
Transcript: ENSMUST00000113275
SMART Domains Protein: ENSMUSP00000108900
Gene: ENSMUSG00000031257

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: ENSMUST00000159231
SMART Domains Protein: ENSMUSP00000124225
Gene: ENSMUSG00000031257

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159259
SMART Domains Protein: ENSMUSP00000124355
Gene: ENSMUSG00000031257

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
Predicted Effect probably benign
Transcript: ENSMUST00000162833
SMART Domains Protein: ENSMUSP00000123841
Gene: ENSMUSG00000031257

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,110,205 (GRCm39) probably benign Het
AB124611 C T 9: 21,440,221 (GRCm39) S69L possibly damaging Het
Abca6 G A 11: 110,069,618 (GRCm39) A1566V possibly damaging Het
Ahnak A G 19: 8,992,197 (GRCm39) I4494V possibly damaging Het
Ascc3 T A 10: 50,721,791 (GRCm39) Y2081* probably null Het
Cdc42bpb T C 12: 111,289,561 (GRCm39) T423A probably benign Het
Cdh6 T A 15: 13,064,516 (GRCm39) I125F possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,368,609 (GRCm39) L1845P possibly damaging Het
Epha4 A G 1: 77,483,385 (GRCm39) V208A possibly damaging Het
Fanci A G 7: 79,094,264 (GRCm39) probably benign Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Flnc A G 6: 29,451,484 (GRCm39) D1566G probably damaging Het
Gm11565 A G 11: 99,805,811 (GRCm39) T68A probably benign Het
Ifng G A 10: 118,281,159 (GRCm39) R154H probably damaging Het
Il1r1 G A 1: 40,352,392 (GRCm39) E521K possibly damaging Het
Irf3 G T 7: 44,648,163 (GRCm39) L9F probably damaging Het
Jade1 T G 3: 41,568,374 (GRCm39) I814S probably benign Het
Kcnh1 G A 1: 192,019,851 (GRCm39) W365* probably null Het
Kif16b T C 2: 142,514,280 (GRCm39) T1209A possibly damaging Het
Mcur1 A T 13: 43,695,203 (GRCm39) S324T probably damaging Het
Mgat2 C A 12: 69,231,558 (GRCm39) A44E probably benign Het
Oga A T 19: 45,753,940 (GRCm39) W645R probably damaging Het
Or52ae7 A T 7: 103,119,590 (GRCm39) I115F probably benign Het
Or5ak23 A G 2: 85,244,537 (GRCm39) S229P probably benign Het
Pcnt A T 10: 76,265,090 (GRCm39) I340N probably damaging Het
Pde11a T C 2: 75,877,189 (GRCm39) E760G possibly damaging Het
Per3 C T 4: 151,102,674 (GRCm39) probably null Het
Rabep1 G A 11: 70,808,306 (GRCm39) A421T probably benign Het
Rint1 C T 5: 23,999,450 (GRCm39) Q80* probably null Het
Rnaset2b G A 17: 7,248,568 (GRCm39) probably null Het
Sccpdh T C 1: 179,508,070 (GRCm39) Y237H probably benign Het
Scn10a T A 9: 119,520,628 (GRCm39) T91S probably damaging Het
Spock1 A G 13: 57,592,245 (GRCm39) probably benign Het
Stat1 A G 1: 52,182,125 (GRCm39) probably benign Het
Svil A G 18: 5,118,203 (GRCm39) E2212G probably damaging Het
Taok1 T A 11: 77,440,103 (GRCm39) R635W probably benign Het
Vmn1r39 A G 6: 66,781,946 (GRCm39) I124T probably benign Het
Vmn2r32 T C 7: 7,477,283 (GRCm39) I369M probably benign Het
Other mutations in Nox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Nox1 APN X 132,993,560 (GRCm39) missense probably damaging 1.00
R2059:Nox1 UTSW X 132,995,993 (GRCm39) splice site probably benign
Posted On 2015-04-16