Incidental Mutation 'IGL02423:Nox3'
ID 292773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nox3
Ensembl Gene ENSMUSG00000023802
Gene Name NADPH oxidase 3
Synonyms het, nmf250
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL02423
Quality Score
Status
Chromosome 17
Chromosomal Location 3685515-3746536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3733191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 240 (H240R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115800]
AlphaFold Q672J9
Predicted Effect probably damaging
Transcript: ENSMUST00000024565
AA Change: H240R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: H240R

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:Ferric_reduct 75 238 8.6e-28 PFAM
Pfam:FAD_binding_8 311 413 4.1e-26 PFAM
Pfam:NAD_binding_6 419 569 1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115800
AA Change: H220R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: H220R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Ferric_reduct 55 218 5.4e-23 PFAM
Pfam:FAD_binding_6 290 379 1.8e-8 PFAM
Pfam:FAD_binding_8 291 393 1.5e-27 PFAM
Pfam:NAD_binding_6 399 549 1e-34 PFAM
Meta Mutation Damage Score 0.8864 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the NOX family of NADPH oxidases. These enzymes catalyze the transfer of electrons from NADPH to molecular oxygen to produce superoxide and other reactive oxygen species (ROS). The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia, which are crystalline structures of the inner ear involved in the perception of gravity and linear acceleration. In mouse mutations of this gene lead to the absence of otoconia and vestibular dysfunction. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants bilaterally lack otoliths in otherwise normal ears and display impaired swimming ability, motor capabilities, and vestibular responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca6 A G 11: 110,109,832 (GRCm39) probably benign Het
Adarb2 A T 13: 8,619,756 (GRCm39) R81W probably damaging Het
Adgrf4 T C 17: 42,983,467 (GRCm39) I72V probably benign Het
Banp A G 8: 122,733,830 (GRCm39) I360V probably benign Het
Bmp8a C A 4: 123,210,220 (GRCm39) G289C possibly damaging Het
Car3 A T 3: 14,931,911 (GRCm39) H94L probably damaging Het
Ccdc137 G A 11: 120,350,927 (GRCm39) R108H possibly damaging Het
Cdk14 T C 5: 4,938,905 (GRCm39) N411S probably benign Het
Col4a2 A G 8: 11,483,800 (GRCm39) M907V probably benign Het
Cyp4f17 T A 17: 32,725,923 (GRCm39) W19R possibly damaging Het
Dmxl2 A G 9: 54,301,032 (GRCm39) S2360P possibly damaging Het
Eif2d T G 1: 131,081,097 (GRCm39) probably benign Het
Epx A G 11: 87,762,144 (GRCm39) I369T possibly damaging Het
Fcgbp A G 7: 27,789,378 (GRCm39) E648G probably benign Het
Fer1l4 G A 2: 155,894,827 (GRCm39) P14L probably benign Het
Folr1 A G 7: 101,507,732 (GRCm39) F236S probably benign Het
Foxj2 T G 6: 122,819,732 (GRCm39) M540R possibly damaging Het
Gtf2h1 A G 7: 46,464,824 (GRCm39) T420A probably benign Het
H2-T3 T A 17: 36,498,248 (GRCm39) T222S probably damaging Het
Ice1 A T 13: 70,740,718 (GRCm39) M2163K probably damaging Het
Inppl1 A G 7: 101,481,450 (GRCm39) V244A probably benign Het
Kansl3 A T 1: 36,391,050 (GRCm39) V373D probably damaging Het
Kdm3a A G 6: 71,590,987 (GRCm39) probably benign Het
Krtap1-3 A T 11: 99,481,680 (GRCm39) C156S unknown Het
Mab21l3 T C 3: 101,726,045 (GRCm39) D317G probably damaging Het
Nherf1 A G 11: 115,054,539 (GRCm39) probably null Het
Nxn A T 11: 76,164,858 (GRCm39) S218T probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Or6c35 G A 10: 129,169,397 (GRCm39) V216I probably benign Het
Pcdhb13 T C 18: 37,577,392 (GRCm39) V590A possibly damaging Het
Pim3 T C 15: 88,747,734 (GRCm39) V200A probably benign Het
Plekha3 T C 2: 76,510,524 (GRCm39) F20L probably damaging Het
Pmp22 G T 11: 63,049,118 (GRCm39) R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 (GRCm39) D364A probably benign Het
Psd A G 19: 46,302,943 (GRCm39) F155L possibly damaging Het
Rbm22 T C 18: 60,704,891 (GRCm39) probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Ryr2 A T 13: 11,760,084 (GRCm39) F1556I probably damaging Het
Scap G A 9: 110,207,685 (GRCm39) A465T probably benign Het
Sdf2 A G 11: 78,141,844 (GRCm39) S60G probably damaging Het
Sema3a T C 5: 13,615,776 (GRCm39) I400T probably damaging Het
Ski T C 4: 155,244,191 (GRCm39) D478G probably damaging Het
Slc12a7 A T 13: 73,911,882 (GRCm39) probably benign Het
Sned1 A G 1: 93,211,322 (GRCm39) T1074A probably benign Het
Srebf2 A G 15: 82,059,298 (GRCm39) T239A probably damaging Het
Stk4 C T 2: 163,928,419 (GRCm39) H84Y probably benign Het
Syne1 G T 10: 5,318,295 (GRCm39) Q444K probably benign Het
Tecpr1 T A 5: 144,140,305 (GRCm39) I817F possibly damaging Het
Tep1 G T 14: 51,082,077 (GRCm39) Q1159K possibly damaging Het
Tmem39b G A 4: 129,572,442 (GRCm39) H387Y probably damaging Het
Tpp1 T C 7: 105,398,907 (GRCm39) H174R probably damaging Het
Ttn C T 2: 76,535,617 (GRCm39) V35134I probably benign Het
Usp34 A G 11: 23,304,900 (GRCm39) I378V probably benign Het
Vinac1 T C 2: 128,889,968 (GRCm39) E42G probably benign Het
Vmn2r1 T A 3: 63,997,665 (GRCm39) H440Q probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zic4 C A 9: 91,266,228 (GRCm39) H284N probably damaging Het
Zkscan6 A G 11: 65,719,120 (GRCm39) H380R probably benign Het
Other mutations in Nox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Nox3 APN 17 3,733,290 (GRCm39) missense probably damaging 0.99
IGL01135:Nox3 APN 17 3,746,527 (GRCm39) utr 5 prime probably benign
IGL01791:Nox3 APN 17 3,733,218 (GRCm39) missense possibly damaging 0.68
IGL03091:Nox3 APN 17 3,716,119 (GRCm39) missense probably benign 0.42
R0046:Nox3 UTSW 17 3,733,236 (GRCm39) missense probably benign 0.08
R0046:Nox3 UTSW 17 3,733,236 (GRCm39) missense probably benign 0.08
R0085:Nox3 UTSW 17 3,685,556 (GRCm39) missense probably benign 0.14
R0426:Nox3 UTSW 17 3,745,838 (GRCm39) missense probably damaging 1.00
R0690:Nox3 UTSW 17 3,745,839 (GRCm39) missense probably damaging 1.00
R1281:Nox3 UTSW 17 3,746,460 (GRCm39) missense probably damaging 1.00
R1350:Nox3 UTSW 17 3,700,396 (GRCm39) missense probably damaging 1.00
R1843:Nox3 UTSW 17 3,720,153 (GRCm39) missense probably damaging 1.00
R1902:Nox3 UTSW 17 3,720,292 (GRCm39) missense probably damaging 1.00
R2023:Nox3 UTSW 17 3,744,296 (GRCm39) splice site probably benign
R2762:Nox3 UTSW 17 3,746,433 (GRCm39) missense probably benign 0.35
R2872:Nox3 UTSW 17 3,733,191 (GRCm39) missense probably damaging 1.00
R2872:Nox3 UTSW 17 3,733,191 (GRCm39) missense probably damaging 1.00
R4429:Nox3 UTSW 17 3,733,233 (GRCm39) missense probably benign 0.05
R4630:Nox3 UTSW 17 3,744,257 (GRCm39) missense possibly damaging 0.53
R4926:Nox3 UTSW 17 3,720,169 (GRCm39) missense probably damaging 1.00
R4928:Nox3 UTSW 17 3,685,550 (GRCm39) missense probably null 1.00
R5181:Nox3 UTSW 17 3,685,561 (GRCm39) nonsense probably null
R6911:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R6912:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R7486:Nox3 UTSW 17 3,720,219 (GRCm39) missense probably damaging 1.00
R7529:Nox3 UTSW 17 3,722,050 (GRCm39) missense probably damaging 0.99
R8355:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R8357:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R8455:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R8457:Nox3 UTSW 17 3,736,198 (GRCm39) missense probably damaging 1.00
R9028:Nox3 UTSW 17 3,716,185 (GRCm39) missense possibly damaging 0.62
R9128:Nox3 UTSW 17 3,720,136 (GRCm39) missense probably damaging 1.00
R9581:Nox3 UTSW 17 3,700,328 (GRCm39) missense possibly damaging 0.95
R9780:Nox3 UTSW 17 3,736,260 (GRCm39) missense possibly damaging 0.78
Posted On 2015-04-16