Mutagenetix > Incidental Mutation

Incidental Mutation 'R4630:Nox3'

349150

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

het, nmf250

MMRRC Submission

041895-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R4630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3685515-3746536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3744257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 96 (D96G)

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

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

AlphaFold

Q672J9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115800
AA Change: D96G

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: D96G

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

0.7182

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,622 (GRCm39)		probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
BC024139	T	G	15: 76,009,294 (GRCm39)	Q240P	probably benign	Het
Bckdha	A	T	7: 25,330,884 (GRCm39)	I44N	probably damaging	Het
Brpf1	T	C	6: 113,286,867 (GRCm39)	Y32H	probably damaging	Het
Catip	A	G	1: 74,408,072 (GRCm39)		probably benign	Het
Ccdc138	T	C	10: 58,409,477 (GRCm39)	L602P	probably damaging	Het
Cilp	A	T	9: 65,187,162 (GRCm39)	T1086S	probably benign	Het
Comp	A	T	8: 70,827,032 (GRCm39)	I58F	possibly damaging	Het
Crygs	T	C	16: 22,624,268 (GRCm39)	E113G	possibly damaging	Het
Dnmt3b	C	T	2: 153,512,235 (GRCm39)	R319*	probably null	Het
Eif3a	A	G	19: 60,758,366 (GRCm39)	I804T	unknown	Het
Eif3a	A	T	19: 60,766,424 (GRCm39)	H301Q	probably benign	Het
Elf3	A	T	1: 135,184,478 (GRCm39)		probably benign	Het
Fads2b	C	A	2: 85,348,990 (GRCm39)	G41*	probably null	Het
Gm10384	A	G	15: 36,872,017 (GRCm39)		noncoding transcript	Het
Gm11627	T	A	11: 102,469,657 (GRCm39)		probably benign	Het
Gpr183	A	T	14: 122,192,261 (GRCm39)	Y87N	probably damaging	Het
Gpr183	G	C	14: 122,192,262 (GRCm39)	Y86*	probably null	Het
Gpr26	T	C	7: 131,568,709 (GRCm39)	V18A	probably damaging	Het
Herc1	T	A	9: 66,340,996 (GRCm39)		probably null	Het
Hint2	C	T	4: 43,656,396 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,927,899 (GRCm39)	D837E	probably damaging	Het
Jmjd1c	C	A	10: 66,993,753 (GRCm39)	S78*	probably null	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lalba	T	C	15: 98,380,549 (GRCm39)	M2V	probably benign	Het
Lama1	T	A	17: 68,101,295 (GRCm39)	D1929E	probably benign	Het
Macf1	T	C	4: 123,367,432 (GRCm39)	K878R	possibly damaging	Het
Mboat4	T	C	8: 34,591,108 (GRCm39)	S182P	probably damaging	Het
Muc5b	A	T	7: 141,411,721 (GRCm39)	T1556S	unknown	Het
Myo1g	T	C	11: 6,469,047 (GRCm39)	Y85C	probably damaging	Het
Ncapd2	C	A	6: 125,156,196 (GRCm39)		probably null	Het
Or10a48	T	C	7: 108,424,802 (GRCm39)	M135V	probably damaging	Het
Or1e17	T	C	11: 73,831,822 (GRCm39)	L250P	probably damaging	Het
Or6c212	A	G	10: 129,559,350 (GRCm39)	L21P	probably damaging	Het
Pacs1	C	T	19: 5,206,384 (GRCm39)		probably null	Het
Pgap4	C	G	4: 49,586,254 (GRCm39)	V305L	probably benign	Het
Pgm5	C	A	19: 24,812,110 (GRCm39)	G141*	probably null	Het
Pik3r4	A	G	9: 105,532,098 (GRCm39)	M557V	probably benign	Het
Pld4	T	A	12: 112,731,498 (GRCm39)	V217D	probably damaging	Het
Pphln1-ps1	T	C	16: 13,495,278 (GRCm39)	S126P	probably damaging	Het
Ppp1r3c	T	C	19: 36,710,915 (GRCm39)	E285G	probably benign	Het
Pradc1	T	A	6: 85,424,275 (GRCm39)	M24L	possibly damaging	Het
Prepl	T	C	17: 85,390,659 (GRCm39)	T100A	probably benign	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Rtkn	A	T	6: 83,129,163 (GRCm39)	K540*	probably null	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Setd4	A	G	16: 93,388,114 (GRCm39)	L124P	probably benign	Het
Sh3gl2	A	G	4: 85,297,646 (GRCm39)	D208G	probably damaging	Het
Sult4a1	T	C	15: 83,989,779 (GRCm39)	T8A	possibly damaging	Het
Tert	A	G	13: 73,797,110 (GRCm39)	D1116G	probably damaging	Het
Tlr4	A	G	4: 66,757,477 (GRCm39)	E90G	probably benign	Het
Tmem123	T	C	9: 7,791,393 (GRCm39)	L164P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trp53bp1	G	T	2: 121,038,368 (GRCm39)	A1490D	probably damaging	Het
Ttc16	T	C	2: 32,665,389 (GRCm39)		probably benign	Het
Tyw5	T	A	1: 57,427,686 (GRCm39)	Q306L	probably damaging	Het
Ube2j2	T	A	4: 156,039,715 (GRCm39)	I14N	probably damaging	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Zar1	A	G	5: 72,738,249 (GRCm39)	V51A	probably benign	Het
Zbtb38	T	G	9: 96,570,904 (GRCm39)	N60T	probably damaging	Het
Zfp354a	T	C	11: 50,961,045 (GRCm39)	S417P	probably damaging	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp518a	C	T	19: 40,901,423 (GRCm39)	Q451*	probably null	Het
Zfp64	T	C	2: 168,768,463 (GRCm39)	N383S	possibly damaging	Het
Zfp687	A	T	3: 94,919,799 (GRCm39)		probably null	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
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
R6911:Nox3	UTSW	17	3,736,198 (GRCm39)	missense	probably damaging	1.00
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'- ATGCAAGGTTTCATGTGTTCAGATG -3'
(R):5'- TGTGAGTTAGAGCCAGAGACC -3'

Sequencing Primer
(F):5'- TGTTCAGATGAAGGGTGAAAGCTTC -3'
(R):5'- GCTGTGATCAAATGCCACTAG -3'

Posted On

2015-10-08