Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Nox4'

415743

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nox4

Ensembl Gene

ENSMUSG00000030562

Gene Name

NADPH oxidase 4

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

87246096-87398710 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87370141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032781] [ENSMUST00000068829] [ENSMUST00000126887] [ENSMUST00000136577] [ENSMUST00000144267]

AlphaFold

Q9JHI8

Predicted Effect

probably benign
Transcript: ENSMUST00000032781

SMART Domains

Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Ferric_reduct	58	205	8.3e-21	PFAM
Pfam:FAD_binding_8	306	417	2.8e-17	PFAM
Pfam:NAD_binding_6	423	561	7.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068829

SMART Domains

Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Ferric_reduct	58	205	5.3e-27	PFAM
Pfam:FAD_binding_8	306	417	5.5e-17	PFAM
Pfam:NAD_binding_6	423	539	4.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126887

SMART Domains

Protein: ENSMUSP00000138336
Gene: ENSMUSG00000030562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136577

SMART Domains

Protein: ENSMUSP00000138274
Gene: ENSMUSG00000030562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144267

SMART Domains

Protein: ENSMUSP00000138143
Gene: ENSMUSG00000030562

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null allele display increased heart damage following pressure overload. Mice with a cardiomyocyte specific deletion show decreased damage following pressure overload. Mice homozygous for a different knock-out allele exhibit decreased suseptibility to bleomycin-induced fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Nox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Nox4	APN	7	87376216	missense	possibly damaging	0.89
IGL02711:Nox4	APN	7	87396868	missense	probably damaging	1.00
IGL03234:Nox4	APN	7	87317313	critical splice donor site	probably null
BB001:Nox4	UTSW	7	87374381	missense	probably benign	0.00
BB011:Nox4	UTSW	7	87374381	missense	probably benign	0.00
LCD18:Nox4	UTSW	7	87243067	unclassified	probably benign
PIT4151001:Nox4	UTSW	7	87304889	missense	probably benign	0.02
R0717:Nox4	UTSW	7	87304890	nonsense	probably null
R1033:Nox4	UTSW	7	87374413	missense	probably damaging	0.99
R1135:Nox4	UTSW	7	87323789	missense	probably damaging	1.00
R1333:Nox4	UTSW	7	87246864	missense	possibly damaging	0.80
R1477:Nox4	UTSW	7	87295866	missense	probably benign	0.16
R1489:Nox4	UTSW	7	87304889	missense	probably damaging	0.99
R1579:Nox4	UTSW	7	87370023	missense	probably damaging	0.98
R1669:Nox4	UTSW	7	87295889	missense	probably benign	0.01
R1742:Nox4	UTSW	7	87295818	missense	possibly damaging	0.82
R1900:Nox4	UTSW	7	87360796	nonsense	probably null
R2112:Nox4	UTSW	7	87372008	missense	probably damaging	1.00
R2192:Nox4	UTSW	7	87374380	missense	probably benign	0.02
R2496:Nox4	UTSW	7	87306750	missense	probably benign	0.04
R2497:Nox4	UTSW	7	87295876	nonsense	probably null
R4158:Nox4	UTSW	7	87396824	missense	possibly damaging	0.95
R4160:Nox4	UTSW	7	87396824	missense	possibly damaging	0.95
R4281:Nox4	UTSW	7	87297524	missense	possibly damaging	0.77
R4685:Nox4	UTSW	7	87297508	missense	probably benign	0.36
R4791:Nox4	UTSW	7	87304847	missense	probably benign	0.35
R5001:Nox4	UTSW	7	87360803	missense	probably damaging	0.96
R5091:Nox4	UTSW	7	87376242	missense	probably damaging	1.00
R5174:Nox4	UTSW	7	87323766	missense	probably benign	0.10
R5220:Nox4	UTSW	7	87374408	missense	possibly damaging	0.91
R5278:Nox4	UTSW	7	87371926	missense	probably damaging	1.00
R5723:Nox4	UTSW	7	87304973	intron	probably benign
R5840:Nox4	UTSW	7	87360793	missense	probably benign	0.00
R5852:Nox4	UTSW	7	87338964	missense	probably damaging	0.98
R7516:Nox4	UTSW	7	87321697	missense	probably benign
R7529:Nox4	UTSW	7	87395768	missense	unknown
R7587:Nox4	UTSW	7	87317302	missense	probably damaging	1.00
R7643:Nox4	UTSW	7	87323754	missense	probably damaging	1.00
R7660:Nox4	UTSW	7	87370022	missense	probably damaging	0.97
R7786:Nox4	UTSW	7	87295842	missense	probably damaging	0.99
R7871:Nox4	UTSW	7	87314127	missense	possibly damaging	0.95
R7924:Nox4	UTSW	7	87374381	missense	probably benign	0.00
R7934:Nox4	UTSW	7	87295824	missense	probably damaging	1.00
R8024:Nox4	UTSW	7	87304910	missense	probably damaging	0.99
R8053:Nox4	UTSW	7	87370047	missense	probably damaging	1.00
R8269:Nox4	UTSW	7	87306722	splice site	probably benign
R8376:Nox4	UTSW	7	87374384	missense	probably damaging	1.00
R8461:Nox4	UTSW	7	87317271	missense	probably damaging	0.99
R9041:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9100:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9101:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9102:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9109:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9135:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9136:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9220:Nox4	UTSW	7	87321566	missense	probably benign	0.01
R9252:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9298:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9306:Nox4	UTSW	7	87247573	missense	probably benign	0.01
R9338:Nox4	UTSW	7	87376240	missense	probably benign	0.05
R9339:Nox4	UTSW	7	87376240	missense	probably benign	0.05
X0021:Nox4	UTSW	7	87395678	missense	probably damaging	1.00
Z1177:Nox4	UTSW	7	87395712	missense	unknown

Posted On

2016-08-02