Mutagenetix > Incidental Mutations

Incidental Mutation 'R8357:Nox3'

645837

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

nmf250, het

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R8357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3635240-3696261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3685923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 143 (S143P)

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115800]

AlphaFold

Q672J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000115800
AA Change: S143P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: S143P

Domain	Start	End	E-Value	Type
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

0.4403

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,140,112	L813Q	probably damaging	Het
Alpk3	A	G	7: 81,093,318	N961S	probably damaging	Het
Arhgap42	A	T	9: 9,016,220	S403T	probably benign	Het
Cdkl1	T	C	12: 69,747,338	T342A	probably benign	Het
Chd2	T	C	7: 73,447,237	E1497G	probably damaging	Het
Cldn11	T	C	3: 31,163,193	V170A	probably benign	Het
Cps1	T	A	1: 67,156,854	F291I	probably damaging	Het
Cpsf2	T	A	12: 102,002,670	S722T	probably damaging	Het
Creld1	T	C	6: 113,491,738		probably null	Het
Dgki	T	A	6: 36,850,956	E1002V	possibly damaging	Het
Disp3	T	A	4: 148,261,115	I423F	possibly damaging	Het
Dysf	T	C	6: 84,188,245	V1601A	probably benign	Het
E4f1	G	A	17: 24,446,527	A347V	probably benign	Het
Ehmt2	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	17: 34,905,161		probably benign	Het
Epb41l1	G	A	2: 156,525,251	R680Q	probably benign	Het
Fcrl5	T	G	3: 87,444,260	S272A	probably damaging	Het
Gbp7	A	T	3: 142,546,372	D572V	probably benign	Het
Gm21903	A	T	17: 39,043,320	F8I	unknown	Het
Grin2b	A	G	6: 135,732,199	S1450P	probably benign	Het
Icos	C	A	1: 60,993,856	S71R	probably damaging	Het
Ighv1-13	T	A	12: 114,630,832	N51K	unknown	Het
Ighv1-37	C	T	12: 114,896,625		probably benign	Het
Il1f9	A	G	2: 24,188,649	Y87C	probably benign	Het
Irf7	T	C	7: 141,263,281	N440D	possibly damaging	Het
Ivns1abp	T	A	1: 151,354,010	L150M	probably damaging	Het
Kif16b	A	G	2: 142,711,908	I990T	probably damaging	Het
Kif23	A	G	9: 61,927,035		probably null	Het
Lca5l	T	G	16: 96,159,708	K523T	possibly damaging	Het
Mast3	A	G	8: 70,780,441	F1076L	probably benign	Het
Nek11	A	T	9: 105,347,992	I107N	probably damaging	Het
Nlrp12	T	C	7: 3,240,805	H359R	probably damaging	Het
Olfr1495	A	T	19: 13,768,357	N5I	probably benign	Het
Olfr957	A	C	9: 39,511,146	N191K	probably benign	Het
Rnf10	C	A	5: 115,272,261	K51N	possibly damaging	Het
Scap	G	A	9: 110,381,286	G921D	probably benign	Het
Tk2	A	T	8: 104,236,818	S140T	probably damaging	Het
Tmem106b	A	G	6: 13,084,244	Y249C	probably damaging	Het
Ttll5	T	A	12: 85,876,578	S276R	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,356	V79A	probably benign	Het
Zfp410	T	C	12: 84,327,312	V141A	possibly damaging	Het

Other mutations in Nox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Nox3	APN	17	3683015	missense	probably damaging	0.99
IGL01135:Nox3	APN	17	3696252	utr 5 prime	probably benign
IGL01791:Nox3	APN	17	3682943	missense	possibly damaging	0.68
IGL02423:Nox3	APN	17	3682916	missense	probably damaging	1.00
IGL03091:Nox3	APN	17	3665844	missense	probably benign	0.42
R0046:Nox3	UTSW	17	3682961	missense	probably benign	0.08
R0046:Nox3	UTSW	17	3682961	missense	probably benign	0.08
R0085:Nox3	UTSW	17	3635281	missense	probably benign	0.14
R0426:Nox3	UTSW	17	3695563	missense	probably damaging	1.00
R0690:Nox3	UTSW	17	3695564	missense	probably damaging	1.00
R1281:Nox3	UTSW	17	3696185	missense	probably damaging	1.00
R1350:Nox3	UTSW	17	3650121	missense	probably damaging	1.00
R1843:Nox3	UTSW	17	3669878	missense	probably damaging	1.00
R1902:Nox3	UTSW	17	3670017	missense	probably damaging	1.00
R2023:Nox3	UTSW	17	3694021	splice site	probably benign
R2762:Nox3	UTSW	17	3696158	missense	probably benign	0.35
R2872:Nox3	UTSW	17	3682916	missense	probably damaging	1.00
R2872:Nox3	UTSW	17	3682916	missense	probably damaging	1.00
R4429:Nox3	UTSW	17	3682958	missense	probably benign	0.05
R4630:Nox3	UTSW	17	3693982	missense	possibly damaging	0.53
R4926:Nox3	UTSW	17	3669894	missense	probably damaging	1.00
R4928:Nox3	UTSW	17	3635275	missense	probably null	1.00
R5181:Nox3	UTSW	17	3635286	nonsense	probably null
R6911:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R6912:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R7486:Nox3	UTSW	17	3669944	missense	probably damaging	1.00
R7529:Nox3	UTSW	17	3671775	missense	probably damaging	0.99
R8355:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R8455:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R8457:Nox3	UTSW	17	3685923	missense	probably damaging	1.00
R9028:Nox3	UTSW	17	3665910	missense	possibly damaging	0.62
R9128:Nox3	UTSW	17	3669861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGAAACCTCTTTTATCCAGC -3'
(R):5'- TTCAAGACACTGGGAGAGATGC -3'

Sequencing Primer
(F):5'- TTATCCAGCTCTTTTATGTGAAGC -3'
(R):5'- AATTCCTTGTAGACTGCCAGAGC -3'

Posted On

2020-09-02