Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01135:Nox3'

53107

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?

Possibly non essential (E-score: 0.394) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

3635240-3696261 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 3696252 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000024565
AA Change: T4S

SMART Domains

Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: T4S

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000115800

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	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
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

Posted On

2013-06-21