Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03091:Nox3'

418380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

nmf250, het

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

IGL03091

Quality Score

Status

Chromosome

Chromosomal Location

3635240-3696261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3665844 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 429 (Q429K)

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115800
AA Change: Q429K

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: Q429K

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	A	T	4: 126,459,189	Y314N	probably damaging	Het
Aknad1	A	G	3: 108,751,903	T78A	possibly damaging	Het
Arhgap33	G	A	7: 30,528,293	P494S	probably damaging	Het
Babam2	T	A	5: 31,785,678		probably null	Het
Ces2g	T	C	8: 104,964,754	V174A	probably damaging	Het
Chd1l	G	A	3: 97,563,547	R811C	probably damaging	Het
Crot	A	T	5: 8,966,897	H598Q	probably benign	Het
Dtx2	C	T	5: 136,012,374	S211L	probably damaging	Het
Duox2	T	G	2: 122,289,474	M852L	probably benign	Het
Fmc1	G	T	6: 38,539,235	S72I	probably damaging	Het
Fut1	T	C	7: 45,619,527	C302R	probably damaging	Het
Gm6401	T	C	14: 41,964,658	T184A	possibly damaging	Het
Gsdma2	C	T	11: 98,652,002	T29I	probably damaging	Het
Lgi2	C	A	5: 52,563,965		probably null	Het
Lipe	A	G	7: 25,380,755	L926P	probably damaging	Het
Lrp1	T	A	10: 127,559,124	I2511F	probably benign	Het
Med10	T	C	13: 69,815,697		probably benign	Het
Nbea	A	G	3: 56,085,304	S294P	probably damaging	Het
Neb	T	A	2: 52,271,312	H2156L	probably benign	Het
Neo1	A	T	9: 58,978,668	N335K	probably damaging	Het
Pkd1l1	T	C	11: 8,855,564	R1671G	probably damaging	Het
Plec	T	C	15: 76,189,303	T504A	possibly damaging	Het
Pou5f1	G	T	17: 35,510,042	R127L	probably benign	Het
Prkdc	T	A	16: 15,705,310		probably benign	Het
Rassf8	T	A	6: 145,815,810	N287K	probably benign	Het
Rdh16	T	C	10: 127,813,633		probably benign	Het
Ryr1	G	A	7: 29,083,486	A1901V	possibly damaging	Het
Scnn1g	A	G	7: 121,746,683	Y343C	probably damaging	Het
Sema5a	A	G	15: 32,538,734		probably benign	Het
Slc9b2	G	A	3: 135,329,030	V310M	probably damaging	Het
Stox2	T	A	8: 47,193,187	I477F	possibly damaging	Het
Terb1	A	T	8: 104,469,154	H548Q	probably benign	Het
Tsks	G	A	7: 44,957,895	M547I	possibly damaging	Het
Ttc25	T	A	11: 100,550,250	Y102*	probably null	Het
Tuba8	G	A	6: 121,220,444	E22K	probably damaging	Het
Wee2	T	C	6: 40,462,034	F364L	probably benign	Het
Zfp644	A	G	5: 106,636,858	Y608H	probably 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
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

Posted On

2016-08-02