Incidental Mutation 'R5001:Nox4'
ID 389908
Institutional Source Beutler Lab
Gene Symbol Nox4
Ensembl Gene ENSMUSG00000030562
Gene Name NADPH oxidase 4
Synonyms
MMRRC Submission 042595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5001 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 86895304-87047918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87010011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 404 (Y404F)
Ref Sequence ENSEMBL: ENSMUSP00000070039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032781] [ENSMUST00000068829] [ENSMUST00000126887] [ENSMUST00000136577] [ENSMUST00000144267]
AlphaFold Q9JHI8
Predicted Effect probably damaging
Transcript: ENSMUST00000032781
AA Change: Y404F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: Y404F

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 damaging
Transcript: ENSMUST00000068829
AA Change: Y404F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562
AA Change: Y404F

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 G A 12: 4,248,434 (GRCm39) V499M possibly damaging Het
Aff4 T C 11: 53,295,184 (GRCm39) S795P probably damaging Het
Ank G A 15: 27,562,819 (GRCm39) V176I probably damaging Het
Ankfn1 A G 11: 89,332,268 (GRCm39) I446T possibly damaging Het
Arhgap33 C A 7: 30,232,441 (GRCm39) S32I possibly damaging Het
Ascc3 T A 10: 50,699,744 (GRCm39) Y1856N probably damaging Het
Atf3 T C 1: 190,909,472 (GRCm39) T66A probably benign Het
Atf7ip T C 6: 136,538,386 (GRCm39) C548R probably damaging Het
Bag6 A G 17: 35,364,152 (GRCm39) T841A probably damaging Het
Bbof1 A T 12: 84,473,630 (GRCm39) Q320L possibly damaging Het
Bmp2k A T 5: 97,201,001 (GRCm39) Q307L probably damaging Het
Btaf1 T A 19: 36,964,052 (GRCm39) N874K possibly damaging Het
Calr4 G A 4: 109,096,179 (GRCm39) probably null Het
Camk1d T C 2: 5,317,912 (GRCm39) I248V possibly damaging Het
Ccdc177 G A 12: 80,804,160 (GRCm39) R705C unknown Het
Cdk18 C T 1: 132,046,587 (GRCm39) probably null Het
Cers4 A G 8: 4,565,565 (GRCm39) S4G probably benign Het
Cfap54 A G 10: 92,800,396 (GRCm39) V1604A probably benign Het
Chd8 C T 14: 52,441,372 (GRCm39) G907S probably benign Het
Cilk1 T C 9: 78,038,801 (GRCm39) S17P probably damaging Het
Cnksr3 G A 10: 7,076,746 (GRCm39) Q149* probably null Het
Cntd1 T C 11: 101,176,557 (GRCm39) V218A possibly damaging Het
Cog7 A T 7: 121,549,109 (GRCm39) V384E probably damaging Het
Col5a2 A G 1: 45,542,058 (GRCm39) V6A unknown Het
Col7a1 T C 9: 108,794,146 (GRCm39) probably null Het
Cpsf6 T A 10: 117,203,866 (GRCm39) I29L possibly damaging Het
Cyp3a13 T C 5: 137,897,178 (GRCm39) T379A probably benign Het
Ddx46 T C 13: 55,800,732 (GRCm39) S296P probably damaging Het
Dmbt1 A G 7: 130,651,742 (GRCm39) D328G probably damaging Het
Dnah8 T G 17: 31,006,159 (GRCm39) L3692W probably damaging Het
Dnmt3l A C 10: 77,895,565 (GRCm39) S368R probably null Het
Egfr A G 11: 16,854,434 (GRCm39) K869E probably damaging Het
Ehd1 G A 19: 6,347,724 (GRCm39) M359I probably benign Het
F5 A T 1: 164,023,139 (GRCm39) T1566S probably benign Het
Flrt2 T C 12: 95,745,725 (GRCm39) I21T probably benign Het
Galnt1 T A 18: 24,404,812 (GRCm39) I383K probably benign Het
Ghdc G T 11: 100,657,660 (GRCm39) A523D probably damaging Het
Gm24022 A G 12: 113,393,399 (GRCm39) probably benign Het
Golga3 T C 5: 110,353,643 (GRCm39) S934P probably damaging Het
Gpr135 T A 12: 72,117,282 (GRCm39) T162S probably benign Het
Gucd1 G A 10: 75,353,036 (GRCm39) probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Igkv6-15 T C 6: 70,383,633 (GRCm39) Y56C probably damaging Het
Il22ra1 A T 4: 135,460,415 (GRCm39) Y57F probably damaging Het
Irak4 A G 15: 94,456,154 (GRCm39) E247G possibly damaging Het
Kank3 T C 17: 34,040,746 (GRCm39) V13A possibly damaging Het
Klhl1 A T 14: 96,374,046 (GRCm39) S667T probably damaging Het
Klhl6 T G 16: 19,765,741 (GRCm39) *620C probably null Het
Lct A G 1: 128,235,978 (GRCm39) L343P probably damaging Het
Lgr6 G T 1: 134,918,370 (GRCm39) P264T probably benign Het
Lilrb4a T A 10: 51,367,516 (GRCm39) probably null Het
Lin7a G T 10: 107,218,530 (GRCm39) G25* probably null Het
Lmnb2 G A 10: 80,753,946 (GRCm39) T36M probably damaging Het
Manba T C 3: 135,273,391 (GRCm39) F775S probably benign Het
Marchf6 A G 15: 31,465,468 (GRCm39) V812A probably damaging Het
Megf6 T A 4: 154,352,517 (GRCm39) L1292H probably damaging Het
Myo18b T G 5: 112,909,206 (GRCm39) Q1979P probably damaging Het
Myoz1 T C 14: 20,703,769 (GRCm39) M59V probably damaging Het
Naa35 T C 13: 59,773,345 (GRCm39) I100T possibly damaging Het
Ntn1 T C 11: 68,151,358 (GRCm39) Y441C probably damaging Het
Onecut3 A G 10: 80,331,154 (GRCm39) T105A unknown Het
Or10ak8 C A 4: 118,774,440 (GRCm39) V75F probably damaging Het
Or1n1 T C 2: 36,750,082 (GRCm39) T93A probably benign Het
Or4d5 G A 9: 40,012,523 (GRCm39) H88Y probably benign Het
Pabpc1l A G 2: 163,884,438 (GRCm39) S392G probably benign Het
Pan3 T A 5: 147,463,492 (GRCm39) probably null Het
Pcdha4 G A 18: 37,088,001 (GRCm39) S728N probably benign Het
Pds5a T C 5: 65,854,128 (GRCm39) D38G probably damaging Het
Pgm2l1 A G 7: 99,921,583 (GRCm39) I605V probably benign Het
Phip T C 9: 82,778,072 (GRCm39) probably null Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Ppig T A 2: 69,571,830 (GRCm39) V183D unknown Het
Ppp2r2a A T 14: 67,259,757 (GRCm39) L313* probably null Het
Ppp4c A G 7: 126,386,709 (GRCm39) F126S probably damaging Het
Ptger2 C A 14: 45,226,824 (GRCm39) R135S probably damaging Het
Rab11fip5 T A 6: 85,324,788 (GRCm39) E506D probably damaging Het
Rdh12 G A 12: 79,259,516 (GRCm39) G133R probably damaging Het
Rims2 A T 15: 39,315,824 (GRCm39) D610V probably benign Het
Saa1 T A 7: 46,390,132 (GRCm39) Y122F probably damaging Het
Septin10 A T 10: 59,012,811 (GRCm39) V269E probably damaging Het
Serpina3n T A 12: 104,374,998 (GRCm39) D23E probably benign Het
Serpinb11 A G 1: 107,304,598 (GRCm39) K188E possibly damaging Het
Slc18a3 C T 14: 32,185,736 (GRCm39) V216M possibly damaging Het
Slc19a3 G T 1: 83,000,341 (GRCm39) N225K probably benign Het
Slc4a1 T A 11: 102,242,329 (GRCm39) I797F probably benign Het
Slx9 A G 10: 77,325,850 (GRCm39) V154A probably benign Het
Spic A G 10: 88,511,761 (GRCm39) M165T possibly damaging Het
Timm44 A T 8: 4,325,886 (GRCm39) M1K probably null Het
Tmc6 A G 11: 117,661,610 (GRCm39) L572P probably benign Het
Tnc G A 4: 63,918,299 (GRCm39) T1204M probably benign Het
Tnc G A 4: 63,902,726 (GRCm39) T1517I probably damaging Het
Trip11 A T 12: 101,851,169 (GRCm39) L680* probably null Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Tulp3 A C 6: 128,302,031 (GRCm39) V330G probably damaging Het
Upf1 A G 8: 70,787,350 (GRCm39) S835P probably damaging Het
Wdr64 A G 1: 175,620,525 (GRCm39) probably null Het
Yju2b G A 8: 84,985,304 (GRCm39) P322S probably benign Het
Zbtb40 A G 4: 136,723,461 (GRCm39) L643P probably damaging Het
Zc3h18 A T 8: 123,110,259 (GRCm39) D36V probably damaging Het
Other mutations in Nox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Nox4 APN 7 87,025,424 (GRCm39) missense possibly damaging 0.89
IGL02711:Nox4 APN 7 87,046,076 (GRCm39) missense probably damaging 1.00
IGL03234:Nox4 APN 7 86,966,521 (GRCm39) critical splice donor site probably null
IGL03286:Nox4 APN 7 87,019,349 (GRCm39) splice site probably benign
BB001:Nox4 UTSW 7 87,023,589 (GRCm39) missense probably benign 0.00
BB011:Nox4 UTSW 7 87,023,589 (GRCm39) missense probably benign 0.00
LCD18:Nox4 UTSW 7 86,892,275 (GRCm39) unclassified probably benign
PIT4151001:Nox4 UTSW 7 86,954,097 (GRCm39) missense probably benign 0.02
R0717:Nox4 UTSW 7 86,954,098 (GRCm39) nonsense probably null
R1033:Nox4 UTSW 7 87,023,621 (GRCm39) missense probably damaging 0.99
R1135:Nox4 UTSW 7 86,972,997 (GRCm39) missense probably damaging 1.00
R1333:Nox4 UTSW 7 86,896,072 (GRCm39) missense possibly damaging 0.80
R1477:Nox4 UTSW 7 86,945,074 (GRCm39) missense probably benign 0.16
R1489:Nox4 UTSW 7 86,954,097 (GRCm39) missense probably damaging 0.99
R1579:Nox4 UTSW 7 87,019,231 (GRCm39) missense probably damaging 0.98
R1669:Nox4 UTSW 7 86,945,097 (GRCm39) missense probably benign 0.01
R1742:Nox4 UTSW 7 86,945,026 (GRCm39) missense possibly damaging 0.82
R1900:Nox4 UTSW 7 87,010,004 (GRCm39) nonsense probably null
R2112:Nox4 UTSW 7 87,021,216 (GRCm39) missense probably damaging 1.00
R2192:Nox4 UTSW 7 87,023,588 (GRCm39) missense probably benign 0.02
R2496:Nox4 UTSW 7 86,955,958 (GRCm39) missense probably benign 0.04
R2497:Nox4 UTSW 7 86,945,084 (GRCm39) nonsense probably null
R4158:Nox4 UTSW 7 87,046,032 (GRCm39) missense possibly damaging 0.95
R4160:Nox4 UTSW 7 87,046,032 (GRCm39) missense possibly damaging 0.95
R4281:Nox4 UTSW 7 86,946,732 (GRCm39) missense possibly damaging 0.77
R4685:Nox4 UTSW 7 86,946,716 (GRCm39) missense probably benign 0.36
R4791:Nox4 UTSW 7 86,954,055 (GRCm39) missense probably benign 0.35
R5091:Nox4 UTSW 7 87,025,450 (GRCm39) missense probably damaging 1.00
R5174:Nox4 UTSW 7 86,972,974 (GRCm39) missense probably benign 0.10
R5220:Nox4 UTSW 7 87,023,616 (GRCm39) missense possibly damaging 0.91
R5278:Nox4 UTSW 7 87,021,134 (GRCm39) missense probably damaging 1.00
R5723:Nox4 UTSW 7 86,954,181 (GRCm39) intron probably benign
R5840:Nox4 UTSW 7 87,010,001 (GRCm39) missense probably benign 0.00
R5852:Nox4 UTSW 7 86,988,172 (GRCm39) missense probably damaging 0.98
R7516:Nox4 UTSW 7 86,970,905 (GRCm39) missense probably benign
R7529:Nox4 UTSW 7 87,044,976 (GRCm39) missense unknown
R7587:Nox4 UTSW 7 86,966,510 (GRCm39) missense probably damaging 1.00
R7643:Nox4 UTSW 7 86,972,962 (GRCm39) missense probably damaging 1.00
R7660:Nox4 UTSW 7 87,019,230 (GRCm39) missense probably damaging 0.97
R7786:Nox4 UTSW 7 86,945,050 (GRCm39) missense probably damaging 0.99
R7871:Nox4 UTSW 7 86,963,335 (GRCm39) missense possibly damaging 0.95
R7924:Nox4 UTSW 7 87,023,589 (GRCm39) missense probably benign 0.00
R7934:Nox4 UTSW 7 86,945,032 (GRCm39) missense probably damaging 1.00
R8024:Nox4 UTSW 7 86,954,118 (GRCm39) missense probably damaging 0.99
R8053:Nox4 UTSW 7 87,019,255 (GRCm39) missense probably damaging 1.00
R8269:Nox4 UTSW 7 86,955,930 (GRCm39) splice site probably benign
R8376:Nox4 UTSW 7 87,023,592 (GRCm39) missense probably damaging 1.00
R8461:Nox4 UTSW 7 86,966,479 (GRCm39) missense probably damaging 0.99
R9041:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9100:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9101:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9102:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9109:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9135:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9136:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9220:Nox4 UTSW 7 86,970,774 (GRCm39) missense probably benign 0.01
R9252:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9298:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9306:Nox4 UTSW 7 86,896,781 (GRCm39) missense probably benign 0.01
R9338:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9339:Nox4 UTSW 7 87,025,448 (GRCm39) missense probably benign 0.05
R9448:Nox4 UTSW 7 87,045,001 (GRCm39) missense unknown
X0021:Nox4 UTSW 7 87,044,886 (GRCm39) missense probably damaging 1.00
Z1177:Nox4 UTSW 7 87,044,920 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCTTGCCACATTACACAAGAG -3'
(R):5'- CCCCAGATCTAATTTGTAAAGAGTC -3'

Sequencing Primer
(F):5'- GTTGCCCAAATTAATAACACTGTAC -3'
(R):5'- CAGTCTAGGTTACTTGGGA -3'
Posted On 2016-06-06