Incidental Mutation 'R4158:Nox4'
ID 315625
Institutional Source Beutler Lab
Gene Symbol Nox4
Ensembl Gene ENSMUSG00000030562
Gene Name NADPH oxidase 4
Synonyms
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4158 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 86895304-87047918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87046032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 557 (H557L)
Ref Sequence ENSEMBL: ENSMUSP00000032781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032781] [ENSMUST00000068829] [ENSMUST00000126887] [ENSMUST00000136577] [ENSMUST00000144267]
AlphaFold Q9JHI8
Predicted Effect possibly damaging
Transcript: ENSMUST00000032781
AA Change: H557L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: H557L

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
Meta Mutation Damage Score 0.2831 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,103,854 (GRCm39) H597R probably damaging Het
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign 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
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
R5001:Nox4 UTSW 7 87,010,011 (GRCm39) missense probably damaging 0.96
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'- TAGCAGCCAATTTATGCCCATAG -3'
(R):5'- CCTTGGTATTCTTTGGCATAGC -3'

Sequencing Primer
(F):5'- TGGAAAATGGTTTTAAGATGAAAAGG -3'
(R):5'- GCATAGCACAGCTGTTTGATTCAG -3'
Posted On 2015-05-14