Incidental Mutation 'R1281:Nox3'
ID 151038
Institutional Source Beutler Lab
Gene Symbol Nox3
Ensembl Gene ENSMUSG00000023802
Gene Name NADPH oxidase 3
Synonyms het, nmf250
MMRRC Submission 039347-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R1281 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 3685515-3746536 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3746460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 26 (I26N)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115800]
AlphaFold Q672J9
Predicted Effect probably damaging
Transcript: ENSMUST00000024565
AA Change: I26N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: I26N

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: I6N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: I6N

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A T 1: 173,287,377 (GRCm39) K126* probably null Het
C9 A T 15: 6,519,321 (GRCm39) N386I possibly damaging Het
Csnk1e A C 15: 79,304,841 (GRCm39) N387K possibly damaging Het
Cul9 T C 17: 46,822,460 (GRCm39) T1758A probably damaging Het
Dcaf17 A G 2: 70,908,500 (GRCm39) I256V probably damaging Het
Duox1 G A 2: 122,157,569 (GRCm39) C565Y probably damaging Het
Fchsd2 A G 7: 100,902,759 (GRCm39) H379R possibly damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Krt1c C A 15: 101,721,727 (GRCm39) C438F probably damaging Het
Mast4 G A 13: 102,887,086 (GRCm39) T1001I probably damaging Het
Mrc1 T C 2: 14,298,321 (GRCm39) F726L probably damaging Het
Mroh2a T TN 1: 88,183,889 (GRCm39) probably null Het
Mttp T C 3: 137,812,980 (GRCm39) N550S possibly damaging Het
Necap1 G T 6: 122,851,573 (GRCm39) D16Y possibly damaging Het
Patj T C 4: 98,304,932 (GRCm39) I262T probably damaging Het
Pcdh8 T C 14: 80,005,166 (GRCm39) E953G probably damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Sacs A G 14: 61,429,250 (GRCm39) I433M probably benign Het
Sclt1 A G 3: 41,602,055 (GRCm39) F552L probably benign Het
Smc5 T C 19: 23,213,247 (GRCm39) N479S probably benign Het
Tg G A 15: 66,568,338 (GRCm39) V1342I probably benign Het
Ube2n C A 10: 95,377,618 (GRCm39) N132K probably benign Het
Vmn2r55 A T 7: 12,404,825 (GRCm39) C193S probably benign Het
Zc3hav1 A G 6: 38,330,872 (GRCm39) C96R probably damaging Het
Zfp60 T A 7: 27,437,852 (GRCm39) V53E probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GATGAGATCACTGCTATGGGCCAC -3'
(R):5'- AATTCCTTGAGAGCTGCTCCCAAC -3'

Sequencing Primer
(F):5'- GTTTCACAGGCTGATTCACAGAC -3'
(R):5'- TGCTCCCAACAGGTGCTC -3'
Posted On 2014-01-29