Incidental Mutation 'R5174:Nox4'
ID 399006
Institutional Source Beutler Lab
Gene Symbol Nox4
Ensembl Gene ENSMUSG00000030562
Gene Name NADPH oxidase 4
Synonyms
MMRRC Submission 042754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5174 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 86895304-87047918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86972974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 327 (I327S)
Ref Sequence ENSEMBL: ENSMUSP00000070039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032781] [ENSMUST00000068829] [ENSMUST00000126887] [ENSMUST00000136577] [ENSMUST00000144267]
AlphaFold Q9JHI8
Predicted Effect probably benign
Transcript: ENSMUST00000032781
AA Change: I327S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: I327S

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
AA Change: I327S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562
AA Change: I327S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,728,209 (GRCm39) S632P probably damaging Het
Arhgef16 G A 4: 154,366,504 (GRCm39) R451W probably damaging Het
Asxl3 A T 18: 22,656,172 (GRCm39) D1394V probably benign Het
Atp2a3 T A 11: 72,871,041 (GRCm39) I545N probably damaging Het
Cadps2 T A 6: 23,287,742 (GRCm39) Y1181F probably damaging Het
Camkmt C A 17: 85,759,665 (GRCm39) F268L probably benign Het
Casp14 C T 10: 78,551,225 (GRCm39) G20D possibly damaging Het
Celf1 T C 2: 90,831,353 (GRCm39) C61R probably damaging Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Cers3 A T 7: 66,434,616 (GRCm39) K203M probably damaging Het
Clip4 T C 17: 72,117,957 (GRCm39) F334S probably damaging Het
Cyp2b13 T A 7: 25,788,118 (GRCm39) D415E possibly damaging Het
Decr2 A T 17: 26,306,443 (GRCm39) probably null Het
Dmxl2 T C 9: 54,352,768 (GRCm39) probably null Het
Dnah7b G A 1: 46,282,509 (GRCm39) A2881T possibly damaging Het
Dnaja3 A G 16: 4,502,161 (GRCm39) H55R probably benign Het
Dnajc11 T C 4: 152,064,441 (GRCm39) F531L probably damaging Het
Efcab6 A G 15: 83,938,687 (GRCm39) F10L probably benign Het
Epm2aip1 T C 9: 111,102,455 (GRCm39) F476S probably damaging Het
Fat3 T C 9: 15,910,866 (GRCm39) N1712S probably damaging Het
Flnc T C 6: 29,448,893 (GRCm39) V1343A possibly damaging Het
Fsip2 C T 2: 82,811,085 (GRCm39) P2468L probably benign Het
Gm5798 A G 14: 41,070,620 (GRCm39) H10R possibly damaging Het
Gm7168 A G 17: 14,168,717 (GRCm39) Y28C probably damaging Het
Gtpbp6 G A 5: 110,255,983 (GRCm39) R19C possibly damaging Het
Gucy2e A G 11: 69,127,392 (GRCm39) F27S probably benign Het
Inhca C T 9: 103,159,755 (GRCm39) probably null Het
Krba1 A G 6: 48,389,229 (GRCm39) E548G probably damaging Het
Ltbr A G 6: 125,286,500 (GRCm39) S229P probably benign Het
Mgat5b A T 11: 116,868,541 (GRCm39) Y488F probably benign Het
Mia3 T A 1: 183,112,348 (GRCm39) K475* probably null Het
Mrpl53 C T 6: 83,086,638 (GRCm39) T114M possibly damaging Het
Mrps35 T C 6: 146,961,709 (GRCm39) Y195H possibly damaging Het
Muc4 A T 16: 32,570,556 (GRCm39) I539F possibly damaging Het
Nedd1 T A 10: 92,547,074 (GRCm39) T150S possibly damaging Het
Nrk C G X: 137,887,528 (GRCm39) A1018G probably benign Het
Or4c102 T A 2: 88,422,992 (GRCm39) N281K probably damaging Het
Or4d5 T C 9: 40,012,043 (GRCm39) T248A possibly damaging Het
Or52ae7 T A 7: 103,119,610 (GRCm39) F121L probably benign Het
Or5w19 T A 2: 87,698,755 (GRCm39) V140E possibly damaging Het
Pdzd2 G A 15: 12,372,600 (GRCm39) P2512S probably benign Het
Ptgis T A 2: 167,045,390 (GRCm39) probably null Het
Rnf170 T A 8: 26,619,196 (GRCm39) M140K probably benign Het
Scaf4 A T 16: 90,044,062 (GRCm39) I637K unknown Het
Sdccag8 A T 1: 176,672,916 (GRCm39) T270S probably damaging Het
Sec24d T C 3: 123,158,575 (GRCm39) C1022R probably damaging Het
Sec63 T C 10: 42,705,077 (GRCm39) probably benign Het
Serpinb3d C G 1: 107,006,228 (GRCm39) E287Q possibly damaging Het
Silc1 A T 12: 27,192,027 (GRCm39) noncoding transcript Het
Smarcd2 A G 11: 106,157,871 (GRCm39) probably benign Het
Sox15 A G 11: 69,546,545 (GRCm39) Y116C probably damaging Het
Spag16 T C 1: 70,532,955 (GRCm39) S545P probably damaging Het
Ssc5d C A 7: 4,930,970 (GRCm39) T184N possibly damaging Het
St6galnac2 A T 11: 116,572,773 (GRCm39) F228I probably damaging Het
Syne1 T C 10: 4,991,490 (GRCm39) N8408S probably damaging Het
Trank1 A C 9: 111,194,627 (GRCm39) T884P probably benign Het
Ubr3 T A 2: 69,839,506 (GRCm39) L1540H probably damaging Het
Ugt2b37 C A 5: 87,399,739 (GRCm39) M256I probably benign Het
Vmn2r69 G A 7: 85,064,739 (GRCm39) T49I possibly damaging Het
Vmn2r72 T A 7: 85,387,048 (GRCm39) I839L probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Zfp319 A T 8: 96,054,797 (GRCm39) probably null Het
Zfp592 T C 7: 80,688,073 (GRCm39) S1000P probably damaging Het
Zfp938 T C 10: 82,061,838 (GRCm39) N261D possibly damaging Het
Zfp957 A G 14: 79,450,828 (GRCm39) S324P unknown Het
Zswim6 G T 13: 107,863,216 (GRCm39) noncoding transcript 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
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
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'- GCTGAGAGCTTTAGCCATATTTTACTC -3'
(R):5'- GCTGATACACTGGGGCAATG -3'

Sequencing Primer
(F):5'- TGCTCAGTTGTTAATTCAGTCATAC -3'
(R):5'- CACTGGGGCAATGGAGAATAATATAC -3'
Posted On 2016-07-06