Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00402:Noxo1'

5768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Noxo1

Ensembl Gene

ENSMUSG00000019320

Gene Name

NADPH oxidase organizer 1

Synonyms

2310034C04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00402

Quality Score

Status

Chromosome

Chromosomal Location

24915208-24919503 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 24917910 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: ENSMUST00000141095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141522

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

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,514,165 (GRCm39)	L846H	probably benign	Het
Abca6	A	T	11: 110,075,535 (GRCm39)	L1319I	probably damaging	Het
Apob	C	T	12: 8,043,065 (GRCm39)		probably benign	Het
Atg16l2	A	C	7: 100,945,360 (GRCm39)	S268R	probably benign	Het
Atp1b3	T	C	9: 96,215,756 (GRCm39)		probably benign	Het
Atxn7	T	G	14: 14,096,324 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,880,558 (GRCm39)		probably benign	Het
C4b	G	A	17: 34,953,402 (GRCm39)	T1027I	probably damaging	Het
Caskin1	T	C	17: 24,722,863 (GRCm39)	I577T	probably damaging	Het
Cbx6	A	G	15: 79,713,130 (GRCm39)	V99A	possibly damaging	Het
Ccr9	A	C	9: 123,609,109 (GRCm39)	I252L	probably benign	Het
Cdh8	A	T	8: 100,006,322 (GRCm39)	D88E	probably damaging	Het
Cep135	T	C	5: 76,749,306 (GRCm39)	S258P	probably damaging	Het
Cep57l1	T	G	10: 41,597,547 (GRCm39)		probably benign	Het
Cip2a	T	A	16: 48,822,178 (GRCm39)	H234Q	probably damaging	Het
Col12a1	T	C	9: 79,588,819 (GRCm39)	T1099A	possibly damaging	Het
Col4a4	C	T	1: 82,469,362 (GRCm39)	G802D	unknown	Het
Ddx41	T	C	13: 55,679,212 (GRCm39)	T545A	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Fam13b	A	T	18: 34,587,771 (GRCm39)	V509D	probably damaging	Het
Ffar4	C	T	19: 38,095,837 (GRCm39)	P192L	probably benign	Het
Fn1	C	A	1: 71,680,322 (GRCm39)	C461F	probably damaging	Het
Gm14226	G	T	2: 154,867,078 (GRCm39)	S345I	probably damaging	Het
Gopc	T	C	10: 52,225,326 (GRCm39)	K308E	probably damaging	Het
Hapln2	A	T	3: 87,931,641 (GRCm39)	N28K	possibly damaging	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	T	C	12: 51,806,215 (GRCm39)	H1807R	probably benign	Het
Ifnl2	A	T	7: 28,208,290 (GRCm39)	V193D	possibly damaging	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,557 (GRCm39)	C282*	probably null	Het
Ltv1	C	T	10: 13,066,327 (GRCm39)	V100I	probably benign	Het
Mcf2l	T	C	8: 13,050,857 (GRCm39)	S308P	probably damaging	Het
Narf	G	A	11: 121,129,344 (GRCm39)		probably null	Het
Nmd3	T	A	3: 69,652,573 (GRCm39)	N386K	possibly damaging	Het
Or1e30	T	A	11: 73,678,406 (GRCm39)	I214N	probably damaging	Het
Ppic	C	T	18: 53,542,366 (GRCm39)	G114D	probably damaging	Het
Ppp4r1	T	C	17: 66,123,014 (GRCm39)	S339P	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Qser1	A	G	2: 104,617,326 (GRCm39)	V1072A	probably benign	Het
Rad54l2	T	A	9: 106,577,760 (GRCm39)	M1054L	probably benign	Het
Scara5	A	C	14: 65,975,864 (GRCm39)		probably benign	Het
Smtnl2	C	T	11: 72,294,085 (GRCm39)		probably benign	Het
Spink8	A	T	9: 109,648,287 (GRCm39)	I25F	probably benign	Het
Vit	G	A	17: 78,909,336 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,926,372 (GRCm39)	D3891G	possibly damaging	Het
Zfp207	T	A	11: 80,283,911 (GRCm39)	M277K	probably benign	Het
Zp2	T	C	7: 119,732,623 (GRCm39)	D641G	probably benign	Het

Other mutations in Noxo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6119:Noxo1	UTSW	17	24,915,545 (GRCm39)	unclassified	probably benign
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

Posted On

2012-04-20