Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01455:Nox4'

84740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nox4

Ensembl Gene

ENSMUSG00000030562

Gene Name

NADPH oxidase 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01455

Quality Score

Status

Chromosome

Chromosomal Location

86895304-87047918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87025424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 517 (S517L)

Ref Sequence

ENSEMBL: ENSMUSP00000070039 (fasta)

Gene Model

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

AlphaFold

Q9JHI8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032781
AA Change: S517L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: S517L

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

possibly damaging
Transcript: ENSMUST00000068829
AA Change: S517L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562
AA Change: S517L

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,214,131 (GRCm39)	D87G	possibly damaging	Het
Adgra3	G	A	5: 50,144,899 (GRCm39)	R565*	probably null	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Arb2a	A	T	13: 78,050,766 (GRCm39)		probably benign	Het
B3gnt2	A	T	11: 22,787,042 (GRCm39)	W49R	probably damaging	Het
Ccdc112	T	A	18: 46,426,511 (GRCm39)	K137N	possibly damaging	Het
Ccdc117	G	T	11: 5,484,297 (GRCm39)	T181K	possibly damaging	Het
Cfh	T	C	1: 140,033,277 (GRCm39)	K756E	possibly damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cyp2c29	T	A	19: 39,317,561 (GRCm39)	I349K	possibly damaging	Het
Dcaf15	T	C	8: 84,825,219 (GRCm39)	T434A	probably benign	Het
Entpd5	T	C	12: 84,441,451 (GRCm39)	I106V	probably benign	Het
Eps8l1	T	A	7: 4,481,922 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,995,895 (GRCm39)	P269Q	probably damaging	Het
Fbxw22	C	T	9: 109,214,062 (GRCm39)	M251I	probably benign	Het
Fgd4	T	A	16: 16,308,354 (GRCm39)	T9S	probably benign	Het
Haus8	T	C	8: 71,705,875 (GRCm39)	I270V	probably benign	Het
Herc4	T	A	10: 63,121,922 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,281,128 (GRCm39)	V3367M	probably damaging	Het
Htr1f	A	T	16: 64,746,385 (GRCm39)	F302L	probably damaging	Het
Inpp5f	T	C	7: 128,279,773 (GRCm39)	C458R	probably damaging	Het
Klhl18	T	C	9: 110,261,511 (GRCm39)	E411G	probably damaging	Het
Krt20	A	T	11: 99,322,769 (GRCm39)	F289I	probably benign	Het
Mical1	T	C	10: 41,355,065 (GRCm39)		probably null	Het
Nav1	T	C	1: 135,397,373 (GRCm39)	D932G	probably benign	Het
Nme4	A	T	17: 26,311,036 (GRCm39)	D176E	probably benign	Het
Or1j13	A	T	2: 36,369,368 (GRCm39)	L258H	probably damaging	Het
Pate8	T	A	9: 36,492,659 (GRCm39)	H82L	probably benign	Het
Pip5k1a	T	C	3: 94,975,471 (GRCm39)	D333G	probably benign	Het
Polb	T	C	8: 23,143,088 (GRCm39)	Y36C	probably damaging	Het
Spta1	T	C	1: 174,030,877 (GRCm39)	I953T	possibly damaging	Het
Sptb	A	T	12: 76,659,686 (GRCm39)	D1071E	probably damaging	Het
Stxbp3-ps	T	C	19: 9,535,371 (GRCm39)		noncoding transcript	Het
Tmcc3	A	T	10: 94,422,617 (GRCm39)	I356F	probably damaging	Het
Tmem262	G	T	19: 6,130,189 (GRCm39)	R6L	probably damaging	Het
Tnks	C	A	8: 35,408,054 (GRCm39)	V225L	probably damaging	Het

Other mutations in Nox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02711:Nox4	APN	7	87,046,076 (GRCm39)	missense	probably damaging	1.00
IGL03234:Nox4	APN	7	86,966,521 (GRCm39)	critical splice donor site	probably null
IGL03286:Nox4	APN	7	87,019,349 (GRCm39)	splice site	probably benign
BB001:Nox4	UTSW	7	87,023,589 (GRCm39)	missense	probably benign	0.00
BB011:Nox4	UTSW	7	87,023,589 (GRCm39)	missense	probably benign	0.00
LCD18:Nox4	UTSW	7	86,892,275 (GRCm39)	unclassified	probably benign
PIT4151001:Nox4	UTSW	7	86,954,097 (GRCm39)	missense	probably benign	0.02
R0717:Nox4	UTSW	7	86,954,098 (GRCm39)	nonsense	probably null
R1033:Nox4	UTSW	7	87,023,621 (GRCm39)	missense	probably damaging	0.99
R1135:Nox4	UTSW	7	86,972,997 (GRCm39)	missense	probably damaging	1.00
R1333:Nox4	UTSW	7	86,896,072 (GRCm39)	missense	possibly damaging	0.80
R1477:Nox4	UTSW	7	86,945,074 (GRCm39)	missense	probably benign	0.16
R1489:Nox4	UTSW	7	86,954,097 (GRCm39)	missense	probably damaging	0.99
R1579:Nox4	UTSW	7	87,019,231 (GRCm39)	missense	probably damaging	0.98
R1669:Nox4	UTSW	7	86,945,097 (GRCm39)	missense	probably benign	0.01
R1742:Nox4	UTSW	7	86,945,026 (GRCm39)	missense	possibly damaging	0.82
R1900:Nox4	UTSW	7	87,010,004 (GRCm39)	nonsense	probably null
R2112:Nox4	UTSW	7	87,021,216 (GRCm39)	missense	probably damaging	1.00
R2192:Nox4	UTSW	7	87,023,588 (GRCm39)	missense	probably benign	0.02
R2496:Nox4	UTSW	7	86,955,958 (GRCm39)	missense	probably benign	0.04
R2497:Nox4	UTSW	7	86,945,084 (GRCm39)	nonsense	probably null
R4158:Nox4	UTSW	7	87,046,032 (GRCm39)	missense	possibly damaging	0.95
R4160:Nox4	UTSW	7	87,046,032 (GRCm39)	missense	possibly damaging	0.95
R4281:Nox4	UTSW	7	86,946,732 (GRCm39)	missense	possibly damaging	0.77
R4685:Nox4	UTSW	7	86,946,716 (GRCm39)	missense	probably benign	0.36
R4791:Nox4	UTSW	7	86,954,055 (GRCm39)	missense	probably benign	0.35
R5001:Nox4	UTSW	7	87,010,011 (GRCm39)	missense	probably damaging	0.96
R5091:Nox4	UTSW	7	87,025,450 (GRCm39)	missense	probably damaging	1.00
R5174:Nox4	UTSW	7	86,972,974 (GRCm39)	missense	probably benign	0.10
R5220:Nox4	UTSW	7	87,023,616 (GRCm39)	missense	possibly damaging	0.91
R5278:Nox4	UTSW	7	87,021,134 (GRCm39)	missense	probably damaging	1.00
R5723:Nox4	UTSW	7	86,954,181 (GRCm39)	intron	probably benign
R5840:Nox4	UTSW	7	87,010,001 (GRCm39)	missense	probably benign	0.00
R5852:Nox4	UTSW	7	86,988,172 (GRCm39)	missense	probably damaging	0.98
R7516:Nox4	UTSW	7	86,970,905 (GRCm39)	missense	probably benign
R7529:Nox4	UTSW	7	87,044,976 (GRCm39)	missense	unknown
R7587:Nox4	UTSW	7	86,966,510 (GRCm39)	missense	probably damaging	1.00
R7643:Nox4	UTSW	7	86,972,962 (GRCm39)	missense	probably damaging	1.00
R7660:Nox4	UTSW	7	87,019,230 (GRCm39)	missense	probably damaging	0.97
R7786:Nox4	UTSW	7	86,945,050 (GRCm39)	missense	probably damaging	0.99
R7871:Nox4	UTSW	7	86,963,335 (GRCm39)	missense	possibly damaging	0.95
R7924:Nox4	UTSW	7	87,023,589 (GRCm39)	missense	probably benign	0.00
R7934:Nox4	UTSW	7	86,945,032 (GRCm39)	missense	probably damaging	1.00
R8024:Nox4	UTSW	7	86,954,118 (GRCm39)	missense	probably damaging	0.99
R8053:Nox4	UTSW	7	87,019,255 (GRCm39)	missense	probably damaging	1.00
R8269:Nox4	UTSW	7	86,955,930 (GRCm39)	splice site	probably benign
R8376:Nox4	UTSW	7	87,023,592 (GRCm39)	missense	probably damaging	1.00
R8461:Nox4	UTSW	7	86,966,479 (GRCm39)	missense	probably damaging	0.99
R9041:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9100:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9101:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9102:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9109:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9135:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9136:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9220:Nox4	UTSW	7	86,970,774 (GRCm39)	missense	probably benign	0.01
R9252:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9298:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9306:Nox4	UTSW	7	86,896,781 (GRCm39)	missense	probably benign	0.01
R9338:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9339:Nox4	UTSW	7	87,025,448 (GRCm39)	missense	probably benign	0.05
R9448:Nox4	UTSW	7	87,045,001 (GRCm39)	missense	unknown
X0021:Nox4	UTSW	7	87,044,886 (GRCm39)	missense	probably damaging	1.00
Z1177:Nox4	UTSW	7	87,044,920 (GRCm39)	missense	unknown

Posted On

2013-11-11