Incidental Mutation 'IGL01024:Nox3'
ID 54064
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 # IGL01024
Quality Score
Status
Chromosome 17
Chromosomal Location 3685515-3746536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3733290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 187 (I187N)
Ref Sequence ENSEMBL: ENSMUSP00000111466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115800]
AlphaFold Q672J9
Predicted Effect possibly damaging
Transcript: ENSMUST00000024565
AA Change: I207N

PolyPhen 2 Score 0.950 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: I207N

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: I187N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: I187N

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,040 (GRCm39) V209A probably benign Het
Abca6 T A 11: 110,087,968 (GRCm39) Y1053F probably benign Het
Acot12 C T 13: 91,929,330 (GRCm39) Q386* probably null Het
Adamts16 A G 13: 70,943,603 (GRCm39) V336A probably benign Het
Ankrd49 A G 9: 14,694,099 (GRCm39) F23L probably damaging Het
Aspm A T 1: 139,405,862 (GRCm39) H1583L possibly damaging Het
Atp6v0a1 A G 11: 100,939,265 (GRCm39) I677V probably benign Het
Brinp1 A T 4: 68,680,731 (GRCm39) W600R probably damaging Het
Ccdc185 T C 1: 182,574,988 (GRCm39) E567G possibly damaging Het
Clip2 T C 5: 134,539,066 (GRCm39) D445G probably damaging Het
Elp5 T C 11: 69,859,248 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,570 (GRCm39) M1V probably null Het
Gtf2a1l A G 17: 88,978,719 (GRCm39) K40R probably damaging Het
Hdc A G 2: 126,445,766 (GRCm39) V246A probably benign Het
Hectd2 T A 19: 36,583,793 (GRCm39) F479L probably damaging Het
Hipk1 G T 3: 103,667,952 (GRCm39) N538K probably benign Het
Kif27 T A 13: 58,436,015 (GRCm39) E1259D possibly damaging Het
Klhdc2 T A 12: 69,352,610 (GRCm39) N256K probably benign Het
Krt71 C T 15: 101,645,109 (GRCm39) A401T probably damaging Het
Mapk3 A T 7: 126,363,946 (GRCm39) K312* probably null Het
Med12l G T 3: 58,980,762 (GRCm39) S365I probably damaging Het
Mgam A G 6: 40,619,944 (GRCm39) K11R probably benign Het
Nudcd1 T A 15: 44,284,222 (GRCm39) M55L probably benign Het
Or1a1b A T 11: 74,097,481 (GRCm39) L187Q probably damaging Het
Or4f59 A T 2: 111,872,716 (GRCm39) F220L probably benign Het
Or8b57 A G 9: 40,004,029 (GRCm39) S78P probably damaging Het
Pard6g T C 18: 80,123,037 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,774,217 (GRCm39) R461H probably damaging Het
Ppm1f C A 16: 16,741,633 (GRCm39) T369K probably benign Het
Ppp1r16b C T 2: 158,582,736 (GRCm39) probably benign Het
Pramel29 A T 4: 143,935,045 (GRCm39) I232K possibly damaging Het
Prom2 T C 2: 127,383,059 (GRCm39) N61S probably benign Het
Psmc2 T C 5: 22,006,196 (GRCm39) probably benign Het
Psme2 A G 14: 55,825,893 (GRCm39) probably benign Het
Ptprc T C 1: 138,008,650 (GRCm39) H655R probably damaging Het
Pxdn A C 12: 30,037,098 (GRCm39) N292T probably damaging Het
Rapgef2 T C 3: 78,977,445 (GRCm39) I1301V probably benign Het
Rnase11 T C 14: 51,287,321 (GRCm39) I78V probably benign Het
Rpl41 A G 10: 128,384,246 (GRCm39) probably benign Het
Sgf29 G A 7: 126,264,103 (GRCm39) R56Q possibly damaging Het
Sis A G 3: 72,819,209 (GRCm39) L1449S probably damaging Het
Slc34a2 T A 5: 53,224,972 (GRCm39) V371D possibly damaging Het
Son C A 16: 91,452,798 (GRCm39) T515K probably damaging Het
Tbx15 A T 3: 99,223,562 (GRCm39) D250V probably damaging Het
Thoc2l T G 5: 104,669,612 (GRCm39) V1378G probably benign Het
Tmem171 T A 13: 98,823,026 (GRCm39) probably null Het
Ugt2b36 C T 5: 87,228,728 (GRCm39) probably null Het
Vill G A 9: 118,899,418 (GRCm39) probably null Het
Vmn2r22 A G 6: 123,615,012 (GRCm39) F193L probably damaging Het
Vmn2r95 C T 17: 18,672,590 (GRCm39) probably benign Het
Vstm2a T A 11: 16,231,874 (GRCm39) V223D possibly damaging Het
Other mutations in Nox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02423:Nox3 APN 17 3,733,191 (GRCm39) missense probably damaging 1.00
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 2013-06-28