Incidental Mutation 'IGL02711:Nox4'
ID304579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nox4
Ensembl Gene ENSMUSG00000030562
Gene NameNADPH oxidase 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.457) question?
Stock #IGL02711
Quality Score
Status
Chromosome7
Chromosomal Location87246096-87398710 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87396868 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 572 (Y572H)
Ref Sequence ENSEMBL: ENSMUSP00000032781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032781] [ENSMUST00000068829] [ENSMUST00000126887] [ENSMUST00000136577] [ENSMUST00000144267]
Predicted Effect probably damaging
Transcript: ENSMUST00000032781
AA Change: Y572H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: Y572H

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Ferric_reduct 58 205 8.3e-21 PFAM
Pfam:FAD_binding_8 306 417 2.8e-17 PFAM
Pfam:NAD_binding_6 423 561 7.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068829
SMART Domains Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Ferric_reduct 58 205 5.3e-27 PFAM
Pfam:FAD_binding_8 306 417 5.5e-17 PFAM
Pfam:NAD_binding_6 423 539 4.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126887
SMART Domains Protein: ENSMUSP00000138336
Gene: ENSMUSG00000030562

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136577
SMART Domains Protein: ENSMUSP00000138274
Gene: ENSMUSG00000030562

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144267
SMART Domains Protein: ENSMUSP00000138143
Gene: ENSMUSG00000030562

DomainStartEndE-ValueType
transmembrane domain 13 35 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 encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null allele display increased heart damage following pressure overload. Mice with a cardiomyocyte specific deletion show decreased damage following pressure overload. Mice homozygous for a different knock-out allele exhibit decreased suseptibility to bleomycin-induced fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,723,245 probably null Het
Adamts10 T A 17: 33,538,272 M400K probably damaging Het
Adamts17 G A 7: 67,052,040 probably benign Het
Adh5 A G 3: 138,454,673 K323E probably damaging Het
Angptl2 T C 2: 33,228,243 W10R probably benign Het
Arhgap15 T C 2: 44,116,662 F264L possibly damaging Het
Atp6v1g3 T A 1: 138,283,681 L33Q probably damaging Het
Baz2b A T 2: 59,917,505 probably benign Het
BC027072 T C 17: 71,749,382 D1100G probably benign Het
Capn11 A G 17: 45,632,415 F611S probably damaging Het
Cep152 T A 2: 125,563,942 T1557S possibly damaging Het
Cep76 A T 18: 67,638,336 S75R probably benign Het
Cps1 A G 1: 67,212,517 probably benign Het
Dbf4 G T 5: 8,408,235 A199E probably benign Het
Gldc C T 19: 30,145,146 probably null Het
Hspa14 G A 2: 3,502,520 A117V probably benign Het
Igkv4-80 G A 6: 69,016,817 P30L probably damaging Het
Itga2b A T 11: 102,465,725 W292R possibly damaging Het
Kansl1 A T 11: 104,335,575 S982T probably damaging Het
Klhdc7b A T 15: 89,388,043 K1043* probably null Het
Kmt2a A T 9: 44,824,523 probably benign Het
Krt86 T C 15: 101,473,662 Y38H probably damaging Het
Lingo4 T C 3: 94,403,393 I546T probably benign Het
Lrrk1 A G 7: 66,330,767 S222P probably damaging Het
Lrrk2 T C 15: 91,685,822 V178A possibly damaging Het
Maml2 T C 9: 13,620,063 V191A probably benign Het
Msh3 T C 13: 92,351,311 T133A probably damaging Het
Nck1 T C 9: 100,508,620 D12G probably damaging Het
Nqo1 A T 8: 107,392,931 L30Q probably damaging Het
Olfr994 A T 2: 85,430,739 V30E probably damaging Het
Oxr1 A G 15: 41,653,671 probably benign Het
Pcdhb10 A C 18: 37,412,726 D285A possibly damaging Het
Pclo A G 5: 14,522,308 N569S unknown Het
Ppfibp1 T A 6: 147,026,238 Y794* probably null Het
Ripor3 T G 2: 168,006,280 probably benign Het
Rpe65 C A 3: 159,622,877 H441N possibly damaging Het
St14 A G 9: 31,089,900 V845A probably benign Het
Tmem116 T A 5: 121,487,741 probably benign Het
Tnfrsf11b A T 15: 54,256,136 D147E probably benign Het
Ttn C A 2: 76,730,122 G27566* probably null Het
Zscan18 G T 7: 12,775,117 probably benign Het
Other mutations in Nox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Nox4 APN 7 87376216 missense possibly damaging 0.89
IGL03234:Nox4 APN 7 87317313 critical splice donor site probably null
IGL03286:Nox4 APN 7 87370141 splice site probably benign
LCD18:Nox4 UTSW 7 87243067 unclassified probably benign
PIT4151001:Nox4 UTSW 7 87304889 missense probably benign 0.02
R0717:Nox4 UTSW 7 87304890 nonsense probably null
R1033:Nox4 UTSW 7 87374413 missense probably damaging 0.99
R1135:Nox4 UTSW 7 87323789 missense probably damaging 1.00
R1333:Nox4 UTSW 7 87246864 missense possibly damaging 0.80
R1477:Nox4 UTSW 7 87295866 missense probably benign 0.16
R1489:Nox4 UTSW 7 87304889 missense probably damaging 0.99
R1579:Nox4 UTSW 7 87370023 missense probably damaging 0.98
R1669:Nox4 UTSW 7 87295889 missense probably benign 0.01
R1742:Nox4 UTSW 7 87295818 missense possibly damaging 0.82
R1900:Nox4 UTSW 7 87360796 nonsense probably null
R2112:Nox4 UTSW 7 87372008 missense probably damaging 1.00
R2192:Nox4 UTSW 7 87374380 missense probably benign 0.02
R2496:Nox4 UTSW 7 87306750 missense probably benign 0.04
R2497:Nox4 UTSW 7 87295876 nonsense probably null
R4158:Nox4 UTSW 7 87396824 missense possibly damaging 0.95
R4160:Nox4 UTSW 7 87396824 missense possibly damaging 0.95
R4281:Nox4 UTSW 7 87297524 missense possibly damaging 0.77
R4685:Nox4 UTSW 7 87297508 missense probably benign 0.36
R4791:Nox4 UTSW 7 87304847 missense probably benign 0.35
R5001:Nox4 UTSW 7 87360803 missense probably damaging 0.96
R5091:Nox4 UTSW 7 87376242 missense probably damaging 1.00
R5174:Nox4 UTSW 7 87323766 missense probably benign 0.10
R5220:Nox4 UTSW 7 87374408 missense possibly damaging 0.91
R5278:Nox4 UTSW 7 87371926 missense probably damaging 1.00
R5723:Nox4 UTSW 7 87304973 intron probably benign
R5840:Nox4 UTSW 7 87360793 missense probably benign 0.00
R5852:Nox4 UTSW 7 87338964 missense probably damaging 0.98
X0021:Nox4 UTSW 7 87395678 missense probably damaging 1.00
Posted On2015-04-16