Mutagenetix > Incidental Mutation

Incidental Mutation 'R0690:Nox3'

61369

Institutional Source

Beutler Lab

Gene Symbol

Nox3

Ensembl Gene

ENSMUSG00000023802

Gene Name

NADPH oxidase 3

Synonyms

het, nmf250

MMRRC Submission

038875-MU

Accession Numbers

Essential gene?

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

Stock #

R0690 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

3685515-3746536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3745839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 23 (N23S)

Ref Sequence

ENSEMBL: ENSMUSP00000111466 (fasta)

Gene Model

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

AlphaFold

Q672J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000024565
AA Change: N43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: N43S

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 damaging
Transcript: ENSMUST00000115800
AA Change: N23S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: N23S

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

0.4151

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,860,634 (GRCm39)		probably benign	Het
Abi3	T	C	11: 95,724,460 (GRCm39)		probably benign	Het
Adam2	T	C	14: 66,295,095 (GRCm39)	N250S	probably damaging	Het
Agbl4	T	A	4: 111,514,585 (GRCm39)	I532K	probably benign	Het
Agrn	T	G	4: 156,258,910 (GRCm39)	E905A	probably damaging	Het
Ahi1	A	G	10: 20,846,742 (GRCm39)		probably benign	Het
Aifm2	A	G	10: 61,562,231 (GRCm39)	N89S	probably benign	Het
Arsj	C	T	3: 126,231,833 (GRCm39)	T193I	probably damaging	Het
Ascc2	T	A	11: 4,632,933 (GRCm39)	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,528,019 (GRCm39)	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,490,003 (GRCm39)	V56I	possibly damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Celsr2	C	A	3: 108,322,293 (GRCm39)	R173M	probably damaging	Het
Cfap57	A	G	4: 118,426,924 (GRCm39)		probably benign	Het
Cfap69	G	A	5: 5,713,951 (GRCm39)	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,696,905 (GRCm39)		probably benign	Het
Cldn8	C	T	16: 88,359,527 (GRCm39)	V133M	probably damaging	Het
Col2a1	A	T	15: 97,878,073 (GRCm39)	V954E	unknown	Het
Col6a4	T	C	9: 105,905,386 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,586,685 (GRCm39)	M1779V	probably benign	Het
Coq8b	A	G	7: 26,941,674 (GRCm39)	E253G	probably benign	Het
Ctse	T	C	1: 131,602,516 (GRCm39)		probably benign	Het
Cyp2c29	T	A	19: 39,298,170 (GRCm39)	N238K	probably benign	Het
Dcaf1	T	A	9: 106,723,848 (GRCm39)		probably benign	Het
Dcc	A	T	18: 71,942,275 (GRCm39)		probably benign	Het
Dkk1	A	G	19: 30,526,745 (GRCm39)	F12S	probably benign	Het
Dnah6	A	G	6: 73,106,457 (GRCm39)	V1760A	probably benign	Het
Fam117b	G	A	1: 59,997,512 (GRCm39)	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,505,709 (GRCm39)	M110K	probably damaging	Het
Frem3	T	A	8: 81,340,581 (GRCm39)	I958N	possibly damaging	Het
Gab1	T	A	8: 81,526,745 (GRCm39)	N118Y	probably damaging	Het
Gda	T	A	19: 21,387,251 (GRCm39)	I251L	probably benign	Het
Gli2	C	A	1: 118,772,190 (GRCm39)	R505L	probably damaging	Het
Gm5093	A	T	17: 46,750,664 (GRCm39)	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,024,949 (GRCm39)	S327L	probably benign	Het
Gpr156	T	A	16: 37,812,503 (GRCm39)	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071 (GRCm39)	Y790H	probably damaging	Het
Guf1	C	A	5: 69,723,695 (GRCm39)		probably null	Het
H6pd	T	C	4: 150,067,030 (GRCm39)	E452G	possibly damaging	Het
Herc1	T	A	9: 66,294,120 (GRCm39)	Y487*	probably null	Het
Ifi30	T	A	8: 71,217,593 (GRCm39)		probably benign	Het
Klf13	G	A	7: 63,587,819 (GRCm39)	A159V	possibly damaging	Het
Med11	T	A	11: 70,344,052 (GRCm39)	M124K	possibly damaging	Het
Myom3	A	G	4: 135,515,737 (GRCm39)		probably benign	Het
Nat2	A	T	8: 67,954,456 (GRCm39)	I189F	probably damaging	Het
Nhlrc4	C	G	17: 26,162,658 (GRCm39)	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,919,470 (GRCm39)	R173C	probably damaging	Het
Npr2	A	T	4: 43,646,991 (GRCm39)	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,777,661 (GRCm39)	N409S	probably benign	Het
Nucb2	T	C	7: 116,135,086 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,700 (GRCm39)	F179L	possibly damaging	Het
Or5be3	A	G	2: 86,864,226 (GRCm39)	F113S	probably damaging	Het
Or8b12	T	C	9: 37,657,513 (GRCm39)	F28L	probably benign	Het
Orai2	A	T	5: 136,190,453 (GRCm39)	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,371,424 (GRCm39)	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,531,175 (GRCm39)	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,281,109 (GRCm39)	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,803,820 (GRCm39)	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,740,381 (GRCm39)	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,716,081 (GRCm39)		probably benign	Het
Qrfpr	G	A	3: 36,243,708 (GRCm39)	T131M	probably damaging	Het
Rab33b	A	G	3: 51,400,838 (GRCm39)	Y104C	probably damaging	Het
Rad54l	G	T	4: 115,956,947 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,359 (GRCm39)		probably null	Het
Slc1a5	A	T	7: 16,520,829 (GRCm39)	M233L	probably benign	Het
Slc47a2	C	T	11: 61,233,330 (GRCm39)	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,214,004 (GRCm39)	Y39F	probably benign	Het
Slfn5	T	C	11: 82,852,229 (GRCm39)	V785A	probably damaging	Het
Sp6	C	T	11: 96,912,370 (GRCm39)	P28S	possibly damaging	Het
Sptbn5	A	G	2: 119,893,156 (GRCm39)		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
St8sia1	A	G	6: 142,774,980 (GRCm39)	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,690,707 (GRCm39)		probably benign	Het
Syne1	A	G	10: 4,983,138 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,127,472 (GRCm39)	I371N	possibly damaging	Het
Tll1	C	T	8: 64,527,324 (GRCm39)	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,833 (GRCm39)	C114G	probably null	Het
Tmem25	C	T	9: 44,706,811 (GRCm39)		probably benign	Het
Tmem8b	T	C	4: 43,674,562 (GRCm39)	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,549,391 (GRCm39)	H18L	probably benign	Het
Trim63	A	G	4: 134,043,716 (GRCm39)	T60A	probably benign	Het
Trpv2	T	C	11: 62,475,502 (GRCm39)		probably null	Het
Ubr2	A	T	17: 47,249,579 (GRCm39)	I1591K	probably damaging	Het
Use1	A	T	8: 71,819,709 (GRCm39)		probably benign	Het
Zfp850	A	T	7: 27,684,642 (GRCm39)	C35S	possibly damaging	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
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
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'- CCATGCCAATGCGGACTATCCATAAG -3'
(R):5'- TTTAAAGATGCCCTGACTCTTCACACC -3'

Sequencing Primer
(F):5'- TGAAGCTTGAGAAAGTAGAATGCAT -3'
(R):5'- CCTGTTGACTAAGAAGATCCTGTG -3'

Posted On

2013-07-30