Mutagenetix > Incidental Mutation

Incidental Mutation 'R6911:Nox3'

539050

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

het, nmf250

MMRRC Submission

045003-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3685515-3746536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3736198 bp (GRCm39)

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: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

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
4930407I10Rik	T	A	15: 81,948,068 (GRCm39)	M655K	probably benign	Het
Adam34l	A	T	8: 44,078,146 (GRCm39)	F693I	probably benign	Het
Amt	G	T	9: 108,178,428 (GRCm39)		probably null	Het
Anapc7	A	T	5: 122,578,343 (GRCm39)	K443*	probably null	Het
Apcs	A	G	1: 172,721,752 (GRCm39)	V198A	probably benign	Het
Atp2a1	A	G	7: 126,056,008 (GRCm39)	V271A	probably damaging	Het
Bltp2	T	A	11: 78,159,179 (GRCm39)	I459N	probably damaging	Het
Cdh20	T	C	1: 104,912,411 (GRCm39)	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,563,497 (GRCm39)	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,009 (GRCm39)	D101G	probably damaging	Het
Coq7	T	A	7: 118,109,385 (GRCm39)	H221L	unknown	Het
Depdc5	A	T	5: 33,081,536 (GRCm39)	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,077,446 (GRCm39)	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268 (GRCm39)	H298N	probably benign	Het
Fam162a	A	G	16: 35,866,747 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,525,346 (GRCm39)	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,258,527 (GRCm39)	Q147K	probably damaging	Het
Ganab	T	A	19: 8,885,152 (GRCm39)		probably null	Het
Gfm1	T	C	3: 67,358,636 (GRCm39)	V409A	possibly damaging	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid1	A	T	14: 34,542,185 (GRCm39)	M1L	probably benign	Het
Helz	C	T	11: 107,510,051 (GRCm39)	T558I	probably benign	Het
Htra4	A	G	8: 25,515,721 (GRCm39)	V439A	probably damaging	Het
Kctd17	A	G	15: 78,318,206 (GRCm39)	E95G	probably damaging	Het
Kif18b	T	C	11: 102,807,206 (GRCm39)	D43G	probably damaging	Het
Lrpprc	G	A	17: 85,063,711 (GRCm39)	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,042,529 (GRCm39)	C311*	probably null	Het
Mcoln2	C	T	3: 145,898,011 (GRCm39)	T44I	probably damaging	Het
Med13l	A	G	5: 118,893,723 (GRCm39)	T2010A	possibly damaging	Het
Med23	C	T	10: 24,778,079 (GRCm39)	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Myh13	C	T	11: 67,245,753 (GRCm39)	Q1095*	probably null	Het
Nktr	C	A	9: 121,583,392 (GRCm39)	Y93*	probably null	Het
Ntrk2	A	T	13: 59,007,029 (GRCm39)	E210D	probably damaging	Het
Nup210	G	T	6: 91,007,112 (GRCm39)	A568E	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or2y1g	A	G	11: 49,171,634 (GRCm39)	I220V	probably benign	Het
Or4g16	A	G	2: 111,136,618 (GRCm39)	T23A	probably benign	Het
Or5as1	T	A	2: 86,980,111 (GRCm39)	K298I	probably damaging	Het
Pdlim5	T	C	3: 142,010,076 (GRCm39)	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per1	C	T	11: 68,994,083 (GRCm39)	T443M	probably damaging	Het
Plxna1	A	G	6: 89,297,956 (GRCm39)	V1774A	probably damaging	Het
Poteg	A	G	8: 27,940,326 (GRCm39)	Y165C	probably damaging	Het
Prlr	A	G	15: 10,329,270 (GRCm39)	T582A	probably benign	Het
Psma5	A	G	3: 108,172,464 (GRCm39)	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	T	C	13: 11,842,445 (GRCm39)	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,541,123 (GRCm39)	I328T	possibly damaging	Het
Slc12a2	G	T	18: 58,052,541 (GRCm39)	V787L	probably benign	Het
St14	C	T	9: 31,018,081 (GRCm39)	R177Q	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,534,987 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,954,863 (GRCm39)	R76G	probably benign	Het
Ube4a	C	T	9: 44,854,056 (GRCm39)	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,510,104 (GRCm39)	V792A	probably damaging	Het
Wdr11	T	C	7: 129,208,819 (GRCm39)	I430T	probably benign	Het
Xkr4	T	C	1: 3,741,544 (GRCm39)	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,842,537 (GRCm39)		probably benign	Het

Other mutations in Nox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Nox3	APN	17	3,733,290 (GRCm39)	missense	probably damaging	0.99
IGL01135:Nox3	APN	17	3,746,527 (GRCm39)	utr 5 prime	probably benign
IGL01791:Nox3	APN	17	3,733,218 (GRCm39)	missense	possibly damaging	0.68
IGL02423:Nox3	APN	17	3,733,191 (GRCm39)	missense	probably damaging	1.00
IGL03091:Nox3	APN	17	3,716,119 (GRCm39)	missense	probably benign	0.42
R0046:Nox3	UTSW	17	3,733,236 (GRCm39)	missense	probably benign	0.08
R0046:Nox3	UTSW	17	3,733,236 (GRCm39)	missense	probably benign	0.08
R0085:Nox3	UTSW	17	3,685,556 (GRCm39)	missense	probably benign	0.14
R0426:Nox3	UTSW	17	3,745,838 (GRCm39)	missense	probably damaging	1.00
R0690:Nox3	UTSW	17	3,745,839 (GRCm39)	missense	probably damaging	1.00
R1281:Nox3	UTSW	17	3,746,460 (GRCm39)	missense	probably damaging	1.00
R1350:Nox3	UTSW	17	3,700,396 (GRCm39)	missense	probably damaging	1.00
R1843:Nox3	UTSW	17	3,720,153 (GRCm39)	missense	probably damaging	1.00
R1902:Nox3	UTSW	17	3,720,292 (GRCm39)	missense	probably damaging	1.00
R2023:Nox3	UTSW	17	3,744,296 (GRCm39)	splice site	probably benign
R2762:Nox3	UTSW	17	3,746,433 (GRCm39)	missense	probably benign	0.35
R2872:Nox3	UTSW	17	3,733,191 (GRCm39)	missense	probably damaging	1.00
R2872:Nox3	UTSW	17	3,733,191 (GRCm39)	missense	probably damaging	1.00
R4429:Nox3	UTSW	17	3,733,233 (GRCm39)	missense	probably benign	0.05
R4630:Nox3	UTSW	17	3,744,257 (GRCm39)	missense	possibly damaging	0.53
R4926:Nox3	UTSW	17	3,720,169 (GRCm39)	missense	probably damaging	1.00
R4928:Nox3	UTSW	17	3,685,550 (GRCm39)	missense	probably null	1.00
R5181:Nox3	UTSW	17	3,685,561 (GRCm39)	nonsense	probably null
R6912:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R7486:Nox3	UTSW	17	3,720,219 (GRCm39)	missense	probably damaging	1.00
R7529:Nox3	UTSW	17	3,722,050 (GRCm39)	missense	probably damaging	0.99
R8355:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R8357:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R8455:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R8457:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
R9028:Nox3	UTSW	17	3,716,185 (GRCm39)	missense	possibly damaging	0.62
R9128:Nox3	UTSW	17	3,720,136 (GRCm39)	missense	probably damaging	1.00
R9581:Nox3	UTSW	17	3,700,328 (GRCm39)	missense	possibly damaging	0.95
R9780:Nox3	UTSW	17	3,736,260 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGCAGAAACCTCTTTTATCCAGC -3'
(R):5'- CATTCAAGACACTGGGAGAGATGC -3'

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

Posted On

2018-11-06