Mutagenetix > Incidental Mutation

Incidental Mutation 'R6119:Noxo1'

485686

Institutional Source

Beutler Lab

Gene Symbol

Noxo1

Ensembl Gene

ENSMUSG00000019320

Gene Name

NADPH oxidase organizer 1

Synonyms

2310034C04Rik

MMRRC Submission

044429-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6119 (G1)

Quality Score

223.009

Status

Not validated

Chromosome

Chromosomal Location

24915208-24919503 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 24915545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019464] [ENSMUST00000046839] [ENSMUST00000126319]

AlphaFold

Q8VCM2

Predicted Effect

probably benign
Transcript: ENSMUST00000019464

SMART Domains

Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320

Domain	Start	End	E-Value	Type
PX	6	122	1.36e-2	SMART
SH3	160	218	1.55e0	SMART
SH3	234	289	1.8e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046534

Predicted Effect

probably benign
Transcript: ENSMUST00000046839

SMART Domains

Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
low complexity region	48	54	N/A	INTRINSIC
Pfam:Evr1_Alr	97	189	2.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124864

Predicted Effect

probably benign
Transcript: ENSMUST00000126319

SMART Domains

Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688

Domain	Start	End	E-Value	Type
WD40	54	94	3.08e0	SMART
WD40	97	137	2.38e-6	SMART
WD40	140	181	3.85e-1	SMART
WD40	184	223	6.94e-8	SMART
WD40	237	275	7.36e1	SMART
WD40	278	320	3.07e1	SMART
WD40	323	363	1.78e0	SMART
WD40	365	404	1.17e-5	SMART
WD40	410	450	8.16e-5	SMART
WD40	468	507	5.18e-7	SMART
WD40	510	549	8.1e-9	SMART
WD40	552	591	8.55e-8	SMART
WD40	594	633	2.93e-6	SMART
low complexity region	637	650	N/A	INTRINSIC
Pfam:Utp13	654	788	3.7e-43	PFAM
low complexity region	792	800	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152527

Predicted Effect

probably benign
Transcript: ENSMUST00000130633

SMART Domains

Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688

Domain	Start	End	E-Value	Type
WD40	2	38	8.75e-5	SMART
WD40	41	80	8.1e-9	SMART
WD40	90	129	9.52e-6	SMART
WD40	132	171	2.93e-6	SMART
low complexity region	175	188	N/A	INTRINSIC
Pfam:Utp13	192	299	1e-30	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mutations at this locus affect the inner ear and result in vestibular related movement anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,265,138 (GRCm39)	R97*	probably null	Het
4930544D05Rik	G	A	11: 70,507,317 (GRCm39)	A121T	probably damaging	Het
Abtb2	A	T	2: 103,532,655 (GRCm39)	E484D	probably benign	Het
Ankk1	A	T	9: 49,338,183 (GRCm39)	W37R	possibly damaging	Het
Arhgap11a	C	A	2: 113,664,695 (GRCm39)	M529I	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ddx47	T	C	6: 135,000,318 (GRCm39)	I438T	probably benign	Het
Dnhd1	A	G	7: 105,358,647 (GRCm39)	T3379A	probably benign	Het
Dusp3	A	G	11: 101,871,495 (GRCm39)		probably benign	Het
Dync1h1	A	G	12: 110,594,440 (GRCm39)	K1289E	possibly damaging	Het
Egf	A	T	3: 129,530,421 (GRCm39)	I247N	probably benign	Het
Erich1	A	G	8: 14,083,692 (GRCm39)	L126P	probably benign	Het
Fat3	T	A	9: 16,287,864 (GRCm39)	H553L	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,740 (GRCm39)	L257P	probably damaging	Het
Gimap8	T	C	6: 48,635,888 (GRCm39)	I551T	possibly damaging	Het
Gnptab	C	A	10: 88,267,257 (GRCm39)	D449E	probably damaging	Het
Grb10	T	C	11: 11,883,551 (GRCm39)	D513G	probably damaging	Het
Grin1	T	G	2: 25,195,170 (GRCm39)	D283A	probably damaging	Het
Gtf2i	A	T	5: 134,315,911 (GRCm39)		probably null	Het
Ip6k3	A	G	17: 27,367,599 (GRCm39)	V199A	possibly damaging	Het
Kif17	T	A	4: 138,015,643 (GRCm39)	Y405*	probably null	Het
Lair1	T	C	7: 4,031,895 (GRCm39)	M71V	probably benign	Het
Mamdc2	G	A	19: 23,330,679 (GRCm39)	T376M	probably damaging	Het
Msra	G	A	14: 64,678,183 (GRCm39)	R38C	probably damaging	Het
Mthfd1	A	T	12: 76,350,447 (GRCm39)	I462F	probably damaging	Het
Nbr1	A	G	11: 101,457,938 (GRCm39)		probably null	Het
Neb	A	G	2: 52,110,943 (GRCm39)	M181T	probably benign	Het
Optn	C	A	2: 5,026,134 (GRCm39)		probably null	Het
Or10ag58	A	T	2: 87,265,733 (GRCm39)	K301*	probably null	Het
Or4c103	A	G	2: 88,513,935 (GRCm39)	I47T	probably damaging	Het
Or5k17	A	T	16: 58,746,895 (GRCm39)	I13N	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pclo	A	G	5: 14,727,033 (GRCm39)		probably benign	Het
Ppp1r16b	A	G	2: 158,593,047 (GRCm39)	I209V	probably benign	Het
Prss12	A	G	3: 123,283,258 (GRCm39)	I517V	possibly damaging	Het
Pwwp3a	A	G	10: 80,064,865 (GRCm39)	K32E	probably benign	Het
Ripor2	C	T	13: 24,798,627 (GRCm39)		probably benign	Het
Rmnd5b	A	G	11: 51,516,536 (GRCm39)	S274P	probably benign	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc2a12	T	A	10: 22,541,246 (GRCm39)	I367N	probably damaging	Het
Sorcs1	T	C	19: 50,276,532 (GRCm39)	D340G	probably damaging	Het
Synj1	T	C	16: 90,735,877 (GRCm39)	K1359E	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcf12	T	A	9: 71,775,547 (GRCm39)	E421V	probably damaging	Het
Tecta	A	T	9: 42,284,371 (GRCm39)	F905I	probably benign	Het
Tmem106a	T	A	11: 101,474,576 (GRCm39)	C58*	probably null	Het
Tmem131l	A	T	3: 83,805,689 (GRCm39)	F1585I	probably damaging	Het
Tnks2	T	C	19: 36,856,752 (GRCm39)	S208P	possibly damaging	Het
Trim50	A	G	5: 135,382,274 (GRCm39)	N42S	probably benign	Het
Tsc22d2	T	A	3: 58,367,674 (GRCm39)		probably benign	Het
Ttll3	T	A	6: 113,371,702 (GRCm39)	L23H	probably damaging	Het
Vmn1r10	A	G	6: 57,091,218 (GRCm39)	Y270C	probably benign	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp677	A	G	17: 21,618,070 (GRCm39)	T376A	possibly damaging	Het

Other mutations in Noxo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Noxo1	APN	17	24,917,910 (GRCm39)	unclassified	probably benign
IGL02441:Noxo1	APN	17	24,918,030 (GRCm39)	missense	probably damaging	0.97
IGL02549:Noxo1	APN	17	24,919,145 (GRCm39)	missense	probably damaging	1.00
IGL02881:Noxo1	APN	17	24,918,410 (GRCm39)	missense	probably damaging	1.00
IGL02881:Noxo1	APN	17	24,918,409 (GRCm39)	missense	probably damaging	1.00
fabregas	UTSW	17	24,918,331 (GRCm39)	missense	probably damaging	1.00
R0276:Noxo1	UTSW	17	24,919,136 (GRCm39)	splice site	probably null
R4326:Noxo1	UTSW	17	24,917,937 (GRCm39)	missense	probably benign	0.00
R5080:Noxo1	UTSW	17	24,918,331 (GRCm39)	missense	probably damaging	1.00
R5487:Noxo1	UTSW	17	24,917,291 (GRCm39)	unclassified	probably benign
R5854:Noxo1	UTSW	17	24,917,516 (GRCm39)	missense	probably damaging	1.00
R7889:Noxo1	UTSW	17	24,918,356 (GRCm39)	missense	probably damaging	1.00
R9224:Noxo1	UTSW	17	24,919,305 (GRCm39)	missense	probably benign
R9765:Noxo1	UTSW	17	24,915,386 (GRCm39)	unclassified	probably benign

Predicted Primers

Posted On

2017-08-16