Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Nox3'

539129

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

nmf250, het

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

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: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	A	7: 43,501,147	T67I	possibly damaging	Het
4931406P16Rik	A	G	7: 34,245,668	S384P	probably benign	Het
Abca5	A	T	11: 110,306,280	M524K	probably benign	Het
Aco2	G	A	15: 81,895,396	V134I	probably benign	Het
Acsf2	C	T	11: 94,570,380	M323I	probably benign	Het
Acvr1	T	C	2: 58,447,573	D499G	probably benign	Het
Armc5	G	A	7: 128,240,425	C305Y	probably damaging	Het
Astl	T	C	2: 127,356,386	I286T	probably benign	Het
Atp8a2	G	A	14: 60,012,410	S544L	probably benign	Het
Bbs7	G	T	3: 36,605,704	A194E	probably benign	Het
Brca2	A	G	5: 150,541,742	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,639,700	S1283L	probably benign	Het
Creld2	T	C	15: 88,819,997	S64P	probably damaging	Het
Crtc1	T	C	8: 70,398,311	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,791,119	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,294,871	M487V	probably benign	Het
Dnah12	T	C	14: 26,878,079	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,750,183	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,648,221		probably null	Het
Erf	T	C	7: 25,244,578	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,616,611	I720F	probably benign	Het
Fam83b	T	A	9: 76,490,932	E963V	probably damaging	Het
Fat1	T	A	8: 45,051,023	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,788,080	K118*	probably null	Het
Fcgbp	A	T	7: 28,089,704	Y565F	probably benign	Het
Gm128	A	T	3: 95,240,429	S185T	probably benign	Het
Gm6309	C	T	5: 146,168,830	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprin2	T	C	14: 34,194,640	Y391C	probably damaging	Het
Hexa	T	C	9: 59,539,938	L72P	probably damaging	Het
Hrasls5	A	G	19: 7,639,465		probably benign	Het
Il31ra	T	A	13: 112,549,464	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,322,501	A939T	probably benign	Het
Kif16b	A	G	2: 142,700,099		probably benign	Het
Kndc1	A	T	7: 139,910,278	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,457,543	R2775S	unknown	Het
Luc7l3	C	T	11: 94,309,636	R52H	probably damaging	Het
Mapk15	A	T	15: 75,993,898	R13S	probably damaging	Het
Mdga2	G	T	12: 66,506,115	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,870,611	Q69*	probably null	Het
Mlph	A	T	1: 90,945,620	D551V	probably damaging	Het
Mup5	A	T	4: 61,834,569	F72L	probably benign	Het
Narf	T	C	11: 121,238,461	S24P	probably benign	Het
Ncapg2	A	G	12: 116,426,582	I384V	probably benign	Het
Neo1	T	C	9: 58,917,052	T698A	probably benign	Het
Nrros	T	C	16: 32,162,239	R24G	probably null	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr449	T	C	6: 42,838,802	V307A	probably benign	Het
Pde9a	T	C	17: 31,466,412	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 72,070,396	D315G	probably benign	Het
Plekha6	C	T	1: 133,272,535	A284V	probably benign	Het
Plekhg2	A	G	7: 28,360,259	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,287	A144E	probably damaging	Het
Ppp1r10	T	C	17: 35,929,561	V581A	possibly damaging	Het
Prr12	A	G	7: 45,048,845		probably benign	Het
Rfx6	T	C	10: 51,723,853	V565A	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Saxo2	A	G	7: 82,635,194	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,903,120	D86G	probably benign	Het
Shroom3	A	T	5: 92,943,017	M1128L	probably benign	Het
Smok2a	C	A	17: 13,225,656	T40K	probably benign	Het
Tatdn1	C	T	15: 58,921,269		probably null	Het
Tbc1d2	C	A	4: 46,649,712	G108V	probably damaging	Het
Tbck	T	C	3: 132,686,942	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,626,103	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,598,799	D245G	probably benign	Het
Trim68	A	T	7: 102,684,468	D2E	probably damaging	Het
Trps1	T	A	15: 50,822,298	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,638,603	T385A	probably benign	Het
Ubap2l	A	T	3: 90,038,848	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,532,155	R105W	probably damaging	Het
Ubr4	G	A	4: 139,458,234		probably null	Het
Unc5b	A	G	10: 60,831,092	L25P	probably benign	Het
Usp38	A	G	8: 80,993,329	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,232,204	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,454,600	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 18,827,202	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,499,973		probably benign	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
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
R9028:Nox3	UTSW	17	3665910	missense	possibly damaging	0.62
R9128:Nox3	UTSW	17	3669861	missense	probably damaging	1.00
R9581:Nox3	UTSW	17	3650053	missense	possibly damaging	0.95
R9780:Nox3	UTSW	17	3685985	missense	possibly damaging	0.78

Predicted Primers

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

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

Posted On

2018-11-06