Mutagenetix > Incidental Mutation

Incidental Mutation 'R5852:Nox4'

454721

Institutional Source

Beutler Lab

Gene Symbol

Nox4

Ensembl Gene

ENSMUSG00000030562

Gene Name

NADPH oxidase 4

Synonyms

MMRRC Submission

043227-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86895304-87047918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86988172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 361 (T361I)

Ref Sequence

ENSEMBL: ENSMUSP00000070039 (fasta)

Gene Model

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

AlphaFold

Q9JHI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032781
AA Change: T361I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: T361I

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 damaging
Transcript: ENSMUST00000068829
AA Change: T361I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562
AA Change: T361I

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,139 (GRCm39)	I453F	probably damaging	Het
Anpep	C	T	7: 79,488,720 (GRCm39)	W402*	probably null	Het
Apcdd1	T	C	18: 63,070,134 (GRCm39)	S134P	probably damaging	Het
Ccdc154	T	C	17: 25,382,183 (GRCm39)	V34A	probably benign	Het
Cntn3	A	T	6: 102,397,377 (GRCm39)	N65K	probably damaging	Het
Cntn6	G	T	6: 104,812,706 (GRCm39)	V663F	probably damaging	Het
Crisp3	A	T	17: 40,536,711 (GRCm39)	C201*	probably null	Het
Dnhd1	T	A	7: 105,344,955 (GRCm39)	W2100R	probably damaging	Het
Dync2h1	A	T	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Entrep2	T	A	7: 64,425,579 (GRCm39)	H171L	probably damaging	Het
Gucy1a2	T	C	9: 3,865,460 (GRCm39)	F645L	probably damaging	Het
Hs6st3	G	T	14: 120,106,738 (GRCm39)	R382L	probably damaging	Het
Il27	T	A	7: 126,191,786 (GRCm39)	T89S	possibly damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Klhl23	T	A	2: 69,654,613 (GRCm39)	I161N	probably benign	Het
Lrrk2	G	A	15: 91,640,152 (GRCm39)	E1566K	probably damaging	Het
Mia3	A	G	1: 183,113,713 (GRCm39)	V437A	probably benign	Het
Ncoa6	G	T	2: 155,247,419 (GRCm39)	H1962N	possibly damaging	Het
Pappa2	T	C	1: 158,544,584 (GRCm39)	Y1748C	probably damaging	Het
Phyhip	T	C	14: 70,699,369 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,447,632 (GRCm39)	F2254L	probably benign	Het
Plxnb1	A	G	9: 108,935,518 (GRCm39)	Y1018C	probably damaging	Het
Pnoc	C	T	14: 65,648,671 (GRCm39)	V8I	probably benign	Het
Prss29	A	G	17: 25,541,408 (GRCm39)	D256G	probably benign	Het
Scrn3	T	C	2: 73,161,349 (GRCm39)	F312L	probably damaging	Het
Sephs1	A	G	2: 4,904,339 (GRCm39)	E239G	possibly damaging	Het
Tti1	A	G	2: 157,842,593 (GRCm39)	L812P	probably damaging	Het
Wdr1	A	G	5: 38,694,518 (GRCm39)	S62P	probably benign	Het
Zfp106	A	G	2: 120,346,487 (GRCm39)	S1659P	probably damaging	Het
Zng1	A	G	19: 24,932,769 (GRCm39)	V88A	possibly damaging	Het

Other mutations in Nox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Nox4	APN	7	87,025,424 (GRCm39)	missense	possibly damaging	0.89
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTACTGATCAAATGGCATTGC -3'
(R):5'- TAAGAGGCCTATGATATAAACCCC -3'

Sequencing Primer
(F):5'- CTGATCAAATGGCATTGCTTTATC -3'
(R):5'- CTGGTACTCTTATTATTCTGATTTCA -3'

Posted On

2017-02-10