Mutagenetix > Incidental Mutations

Incidental Mutation 'R2023:Nox3'

220194

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

nmf250, het

MMRRC Submission

040032-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.362) question?

Stock #

R2023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3635240-3696261 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 3694021 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024565

SMART Domains

Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.4%

Validation Efficiency

97% (60/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	T	7: 29,531,534		noncoding transcript	Het
9930111J21Rik1	A	G	11: 48,948,420	S447P	possibly damaging	Het
9930111J21Rik2	A	G	11: 49,020,317	F430L	probably benign	Het
Acap2	A	G	16: 31,119,415	V297A	probably damaging	Het
Adam3	G	A	8: 24,689,463	R613C	possibly damaging	Het
Akt1	C	T	12: 112,659,637	R67Q	probably benign	Het
Ambp	T	C	4: 63,151,465	Y108C	probably damaging	Het
Apob	A	G	12: 8,011,090	I3158V	probably benign	Het
Bank1	T	C	3: 136,325,918	T8A	probably benign	Het
Casp8ap2	T	C	4: 32,644,560	V1211A	probably benign	Het
Ccdc88a	G	T	11: 29,463,546	E695*	probably null	Het
Cep68	A	C	11: 20,239,888	S375A	probably benign	Het
Cfap44	A	G	16: 44,416,012	I417V	probably benign	Het
Chrna2	T	A	14: 66,142,228	H5Q	probably benign	Het
Cog7	A	T	7: 121,936,970	I549K	probably damaging	Het
Col28a1	C	A	6: 8,083,783	S558I	possibly damaging	Het
Cyp4f14	A	G	17: 32,906,531	I385T	probably damaging	Het
Erap1	T	A	13: 74,666,508	V451E	probably benign	Het
Frem1	G	T	4: 82,913,558	T1988K	probably benign	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm5616	A	G	9: 48,450,628		noncoding transcript	Het
Gm5709	T	C	3: 59,635,721		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hsd11b1	T	C	1: 193,240,378	T124A	probably benign	Het
Itpr3	T	A	17: 27,102,811	M1054K	possibly damaging	Het
Kars	T	C	8: 112,001,852	N200S	probably benign	Het
Kdm2a	C	A	19: 4,322,464	R951L	probably damaging	Het
Ldhd	T	A	8: 111,629,946	H61L	probably damaging	Het
Macf1	G	T	4: 123,472,730	A2746E	probably damaging	Het
Micall2	A	G	5: 139,717,511	V190A	possibly damaging	Het
Mis18bp1	A	T	12: 65,149,109	V627E	probably damaging	Het
Muc4	A	T	16: 32,752,254	T711S	probably benign	Het
Notch4	T	C	17: 34,587,528	L1813P	probably damaging	Het
Olfr32	G	T	2: 90,138,856	C94*	probably null	Het
Olfr487	A	G	7: 108,211,842	L229P	probably damaging	Het
Olfr786	T	A	10: 129,437,582	Y257N	probably damaging	Het
Osbpl2	C	A	2: 180,150,176		probably null	Het
Pamr1	T	A	2: 102,634,535	M343K	probably benign	Het
Pcdh15	T	G	10: 74,631,193	S1684A	possibly damaging	Het
Pgr	T	A	9: 8,958,398	V802D	probably damaging	Het
Pgs1	A	G	11: 118,002,402	E55G	probably benign	Het
Pkd2	T	A	5: 104,466,878		probably null	Het
Ppp3r2	T	C	4: 49,681,723	I76V	probably benign	Het
Ptprd	C	T	4: 75,957,104	E1240K	probably damaging	Het
Recql5	G	A	11: 115,893,640	T878I	probably benign	Het
Rnf17	A	G	14: 56,431,579	D233G	possibly damaging	Het
Sectm1a	A	G	11: 121,069,582		probably benign	Het
Smo	A	G	6: 29,754,716	N262D	possibly damaging	Het
Srcin1	A	G	11: 97,526,046	S931P	probably benign	Het
Tcof1	C	T	18: 60,833,533	G329R	probably damaging	Het
Tctex1d4	A	G	4: 117,128,307	E109G	possibly damaging	Het
Thsd7a	G	A	6: 12,327,536	H1446Y	probably benign	Het
Tlr11	A	G	14: 50,362,569	T671A	probably damaging	Het
Tmem171	C	A	13: 98,692,225	W139L	probably damaging	Het
Vmn2r101	C	T	17: 19,590,106	R385*	probably null	Het
Vps13c	A	T	9: 67,936,285		probably benign	Het
Zfp287	A	C	11: 62,714,982	Y366*	probably null	Het
Zfp456	A	T	13: 67,366,497	C363*	probably null	Het
Zfp523	A	G	17: 28,201,004		probably benign	Het
Zfp667	A	C	7: 6,305,417	K361N	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
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
R8357: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

Predicted Primers

PCR Primer
(F):5'- TCTAAAGGCACGATTGGGAG -3'
(R):5'- TGTGAGTTAGAGCCAGAGACC -3'

Sequencing Primer
(F):5'- GCACGATTGGGAGGAGTTAAAC -3'
(R):5'- GAGACCTAAGAAATCCCACTTTTAG -3'

Posted On

2014-08-25