Incidental Mutation 'LCD18:Nox4'
ID 478188
Institutional Source Beutler Lab
Gene Symbol Nox4
Ensembl Gene ENSMUSG00000030562
Gene Name NADPH oxidase 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # LCD18 (G1)
Quality Score 999
Status Validated
Chromosome 7
Chromosomal Location 86895304-87047918 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 86892275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032781] [ENSMUST00000068829] [ENSMUST00000124057] [ENSMUST00000126887] [ENSMUST00000136577] [ENSMUST00000144267]
AlphaFold Q9JHI8
Predicted Effect probably benign
Transcript: ENSMUST00000032781
SMART Domains Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562

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: ENSMUST00000124057
SMART Domains Protein: ENSMUSP00000119365
Gene: ENSMUSG00000030562

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124269
Predicted Effect probably benign
Transcript: ENSMUST00000126887
SMART Domains Protein: ENSMUSP00000138336
Gene: ENSMUSG00000030562

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208077
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: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 88% (169/191)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A G 8: 100,450,057 (GRCm39) noncoding transcript Het
Aff2 C A X: 68,791,141 (GRCm39) probably benign Het
Aldh1a1 C A 19: 20,604,010 (GRCm39) probably benign Het
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Het
Apba2 A T 7: 64,271,908 (GRCm39) probably benign Het
Apc2 G C 10: 80,135,808 (GRCm39) probably benign Het
App C G 16: 84,822,300 (GRCm39) probably benign Het
Asic2 C A 11: 80,876,570 (GRCm39) probably benign Het
Btk T C X: 133,479,574 (GRCm39) probably benign Het
Car12 C A 9: 66,668,958 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Ccdc191 G A 16: 43,742,164 (GRCm39) probably benign Het
Ccdc34 N 2: 110,016,318 (GRCm38) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Het
Cdv3 C A 9: 103,242,553 (GRCm39) probably benign Het
Cdv3 A T 9: 103,242,542 (GRCm39) probably benign Het
Celf2 N 2: 6,779,076 (GRCm38) probably benign Het
Cfap299 G A 5: 98,855,367 (GRCm39) probably benign Het
Clec18a C A 8: 111,802,768 (GRCm39) probably benign Het
Cnpy3 GGATGGAT GGATAGATAGATAGATAGATGGAT 17: 47,048,462 (GRCm39) probably benign Het
Cntn4 A G 6: 106,530,901 (GRCm39) probably benign Het
Cntnap5c G C 17: 58,469,155 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Cpne3 G T 4: 19,563,382 (GRCm39) probably benign Het
Cracd GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 5: 76,806,589 (GRCm39) probably benign Het
Dab1 T G 4: 103,903,769 (GRCm39) probably benign Het
Dapp1 G A 3: 137,645,161 (GRCm39) probably benign Het
Dcc G A 18: 72,430,518 (GRCm39) probably benign Het
Dcun1d1 GAAAAAAAAA GAAAAAAAAAA 3: 35,992,154 (GRCm39) probably benign Het
Dennd1b G A 1: 139,042,502 (GRCm39) probably benign Het
Dhdds TAA TA 4: 133,697,674 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Het
Dnm3 CATATATATATATATATATATATA CATATATATATATATATATATA 1: 162,234,130 (GRCm39) probably benign Het
Dock10 N 1: 80,716,623 (GRCm38) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Het
Fgf20 A C 8: 40,745,359 (GRCm39) probably benign Het
Ftsj3 G T 11: 106,140,885 (GRCm39) probably benign Het
Gls T G 1: 52,222,526 (GRCm39) probably benign Het
Gm12130 T C 11: 38,397,750 (GRCm39) noncoding transcript Het
Gm14936 G A X: 111,908,447 (GRCm39) noncoding transcript Het
Gm16630 C T 6: 48,118,203 (GRCm39) noncoding transcript Het
Gm22194 AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 10: 11,816,707 (GRCm39) noncoding transcript Het
Gm26917 C G 17: 40,154,862 (GRCm39) noncoding transcript Het
Gm35048 GACACACACACACACACACACACACACACACACACACAC GACACACACACACACACACACACACACACACACACAC 1: 90,449,248 (GRCm39) noncoding transcript Het
Gm37311 G A 16: 77,415,169 (GRCm39) noncoding transcript Het
Gm37928 AACACACACACACACACACACACACACACACACA AACACACACACACACACACACACACACACACACACA 3: 118,328,206 (GRCm39) noncoding transcript Het
Gm4302 T C 10: 100,177,306 (GRCm39) W197R probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
H2-T23 T C 17: 36,342,108 (GRCm39) probably benign Het
Hgs CTTTTTTT CTTTTTT 11: 120,360,404 (GRCm39) probably benign Het
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Het
Il1rap C A 16: 26,450,343 (GRCm39) probably benign Het
Inhbc N 10: 127,367,140 (GRCm38) probably benign Het
Inpp4b C T 8: 82,419,639 (GRCm39) probably benign Het
Kars1 N 8: 111,993,708 (GRCm38) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Het
Kcnh7 A G 2: 62,880,143 (GRCm39) probably benign Het
Klhl1 G C 14: 96,555,166 (GRCm39) probably benign Het
Lrch1 C T 14: 75,142,461 (GRCm39) probably benign Het
Lrp1b G C 2: 42,127,574 (GRCm39) probably benign Het
Lsm8 G A 6: 18,844,315 (GRCm39) probably benign Het
Lsm8 G A 6: 18,854,320 (GRCm39) probably benign Het
Magi2 T C 5: 20,159,509 (GRCm39) probably benign Het
Matcap2 N 9: 22,442,083 (GRCm38) probably benign Het
Mef2c G A 13: 83,753,942 (GRCm39) probably benign Het
Mei4 A G 9: 82,069,012 (GRCm39) probably benign Het
Mid1 T A X: 168,788,560 (GRCm39) probably benign Het
Mndal G C 1: 173,707,784 (GRCm39) probably benign Het
Mpped2 C A 2: 106,551,773 (GRCm39) probably benign Het
Mtarc2 TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA 1: 184,554,985 (GRCm39) probably benign Het
Mtf1 A G 4: 124,723,109 (GRCm39) probably benign Het
Mxd1 T C 6: 86,644,388 (GRCm39) probably benign Het
Nbea G T 3: 55,608,948 (GRCm39) probably benign Het
Ncor1 N 11: 62,419,782 (GRCm38) probably benign Het
Ocln C T 13: 100,657,075 (GRCm39) probably benign Het
Ofcc1 G A 13: 40,246,443 (GRCm39) probably benign Het
Or5af2 T A 11: 58,708,266 (GRCm39) V144D possibly damaging Het
Paics N 5: 76,956,744 (GRCm38) probably null Het
Paqr8 G T 1: 20,984,882 (GRCm39) probably benign Het
Pate9 T C 9: 36,444,849 (GRCm39) probably benign Het
Pdss1 C T 2: 22,790,980 (GRCm39) probably benign Het
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Het
Pkhd1 G A 1: 20,681,638 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Het
Prr16 C T 18: 51,333,396 (GRCm39) probably benign Het
Prss38 T G 11: 59,266,467 (GRCm39) probably benign Het
Prxl2c G A 13: 64,435,099 (GRCm39) probably benign Het
Ptprk T C 10: 28,450,983 (GRCm39) probably benign Het
Pum1 N 4: 130,730,549 (GRCm38) probably benign Het
Rabgef1 N 5: 130,187,586 (GRCm38) probably null Het
Rgs16 G A 1: 153,619,976 (GRCm39) probably benign Het
Riok3 G T 18: 12,263,039 (GRCm39) probably benign Het
Rn18s-rs5 T C 17: 40,159,446 (GRCm39) noncoding transcript Het
Robo2 N 16: 74,055,954 (GRCm38) probably benign Het
Rps6ka3 A G X: 158,062,211 (GRCm39) probably benign Het
Rptn T A 3: 93,304,848 (GRCm39) L727Q probably benign Het
Slc25a46 C A 18: 31,730,366 (GRCm39) probably benign Het
Spata31f1e T C 4: 42,792,885 (GRCm39) T416A probably benign Het
Spsb1 C T 4: 150,036,943 (GRCm39) probably benign Het
Tbc1d19 A C 5: 53,974,051 (GRCm39) probably benign Het
Trav7-4 C T 14: 53,698,975 (GRCm39) L41F probably benign Het
Trip12 N 1: 84,754,482 (GRCm38) probably benign Het
Ttc13 G A 8: 125,402,605 (GRCm39) probably benign Het
Ttll6 C T 11: 96,046,084 (GRCm39) probably benign Het
Unc5b C G 10: 60,621,950 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Het
Wars2 N 3: 99,214,774 (GRCm38) probably null Het
Zdhhc3 AACACACACACACACACACACACACACACACAC AACACACACACACACACACACACACACACACACAC 9: 122,912,087 (GRCm39) probably benign Het
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Het
Zfp442 C T 2: 150,261,768 (GRCm39) probably benign Het
Zfp808 C T 13: 62,314,465 (GRCm39) 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
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
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
Posted On 2017-05-26