Mutagenetix > Incidental Mutations

Incidental Mutation 'R5469:Enox1'

433426

Institutional Source

Beutler Lab

Gene Symbol

Enox1

Ensembl Gene

ENSMUSG00000022012

Gene Name

ecto-NOX disulfide-thiol exchanger 1

Synonyms

D230005D02Rik

MMRRC Submission

043030-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77156763-77721760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77592974 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 340 (T340A)

Ref Sequence

ENSEMBL: ENSMUSP00000154296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022589] [ENSMUST00000227662] [ENSMUST00000227831]

Predicted Effect

probably benign
Transcript: ENSMUST00000022589
AA Change: T340A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: T340A

Domain	Start	End	E-Value	Type
low complexity region	95	105	N/A	INTRINSIC
RRM	143	209	2.41e-8	SMART
low complexity region	233	251	N/A	INTRINSIC
coiled coil region	307	342	N/A	INTRINSIC
low complexity region	395	406	N/A	INTRINSIC
coiled coil region	425	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227098

Predicted Effect

probably benign
Transcript: ENSMUST00000227662
AA Change: T340A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227831
AA Change: T340A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228102

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	A	T	12: 28,555,306	N331K	probably benign	Het
Anapc1	G	T	2: 128,675,701	S341*	probably null	Het
Cacna1e	T	C	1: 154,443,937	E1339G	probably damaging	Het
Cacna2d1	T	A	5: 16,352,678	I702N	probably damaging	Het
Casp2	C	A	6: 42,269,334	H209N	probably benign	Het
Casr	A	G	16: 36,510,030	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353	R294*	probably null	Het
Cd180	T	A	13: 102,704,834	H129Q	probably benign	Het
Chst10	A	T	1: 38,865,527	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,239,520	D509E	probably benign	Het
Ctsh	G	T	9: 90,060,511		probably null	Het
Dhx29	C	T	13: 112,944,539	A369V	possibly damaging	Het
Fam135b	T	A	15: 71,446,043	T1357S	probably benign	Het
Flt3	A	T	5: 147,355,083	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gsap	A	T	5: 21,290,544	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,319,434	T142M	probably damaging	Het
Jak3	A	G	8: 71,678,773	D94G	probably benign	Het
Ktn1	A	T	14: 47,690,920	E579D	probably damaging	Het
Lama2	G	A	10: 27,041,189	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,542,641	S2089F	probably damaging	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Mphosph10	A	T	7: 64,389,445		probably null	Het
Pappa	C	T	4: 65,205,152	T908M	probably benign	Het
Pdcd10	T	A	3: 75,521,057	K150*	probably null	Het
Piezo2	A	T	18: 63,027,864	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,467,682		probably null	Het
Pold2	G	A	11: 5,873,048	P376S	probably damaging	Het
Prtg	A	T	9: 72,891,965	Q759L	probably damaging	Het
Rad51ap1	C	T	6: 126,928,227	S107N	probably damaging	Het
Rfk	T	A	19: 17,395,202	N29K	probably damaging	Het
Ror2	T	C	13: 53,117,339	M315V	probably benign	Het
Rrn3	A	G	16: 13,813,100	E600G	probably benign	Het
Ryk	A	G	9: 102,906,954	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,088,660	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Srbd1	C	A	17: 86,119,942	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,492,069	V62G	probably damaging	Het
Tfip11	G	A	5: 112,334,325	W483*	probably null	Het
Tlk1	T	C	2: 70,721,668	H553R	probably benign	Het
Tnc	T	C	4: 64,013,925		probably null	Het
Trav12-1	A	G	14: 53,538,473	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714	T1033I	probably benign	Het
V1ra8	C	T	6: 90,203,204	H130Y	probably benign	Het
Vmn2r77	A	T	7: 86,802,063	M386L	probably benign	Het

Other mutations in Enox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Enox1	APN	14	77582404	missense	possibly damaging	0.63
IGL01376:Enox1	APN	14	77251843	intron	probably benign
IGL01509:Enox1	APN	14	77699273	missense	probably damaging	1.00
IGL01684:Enox1	APN	14	77579093	missense	possibly damaging	0.81
IGL01874:Enox1	APN	14	77579162	missense	probably damaging	1.00
IGL03324:Enox1	APN	14	77615485	missense	probably damaging	1.00
Soft	UTSW	14	77486017	intron	probably benign
R0037:Enox1	UTSW	14	77699310	splice site	probably benign
R0112:Enox1	UTSW	14	77699198	missense	possibly damaging	0.77
R0543:Enox1	UTSW	14	77506959	splice site	probably benign
R0569:Enox1	UTSW	14	77637677	missense	probably damaging	0.99
R0708:Enox1	UTSW	14	77592912	missense	probably benign	0.28
R0811:Enox1	UTSW	14	77582436	missense	probably damaging	0.99
R0812:Enox1	UTSW	14	77582436	missense	probably damaging	0.99
R1417:Enox1	UTSW	14	77486005	intron	probably benign
R1654:Enox1	UTSW	14	77611374	missense	possibly damaging	0.87
R1678:Enox1	UTSW	14	77577656	missense	probably benign	0.00
R1817:Enox1	UTSW	14	77615475	missense	possibly damaging	0.84
R1976:Enox1	UTSW	14	77668793	missense	probably benign
R2520:Enox1	UTSW	14	77582399	missense	probably damaging	0.99
R3880:Enox1	UTSW	14	77611386	missense	possibly damaging	0.49
R4096:Enox1	UTSW	14	77577720	missense	probably damaging	0.99
R4885:Enox1	UTSW	14	77720850	missense	probably damaging	1.00
R4998:Enox1	UTSW	14	77501435	intron	probably benign
R5110:Enox1	UTSW	14	77707687	critical splice donor site	probably null
R5341:Enox1	UTSW	14	77577656	missense	possibly damaging	0.94
R5596:Enox1	UTSW	14	77579053	missense	probably benign	0.42
R5833:Enox1	UTSW	14	77506939	missense	probably benign	0.01
R5892:Enox1	UTSW	14	77486017	intron	probably benign
R6174:Enox1	UTSW	14	77508187	missense	possibly damaging	0.93
R6267:Enox1	UTSW	14	77577764	missense	probably damaging	1.00
R6867:Enox1	UTSW	14	77699299	critical splice donor site	probably null
R7069:Enox1	UTSW	14	77611324	missense	probably damaging	0.99
R7219:Enox1	UTSW	14	77720844	missense	probably benign	0.15
R7316:Enox1	UTSW	14	77720858	missense	probably benign	0.01
R7738:Enox1	UTSW	14	77577780	missense	probably damaging	0.99
Z1177:Enox1	UTSW	14	77668747	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCAAGTTCTCTGAGGCTATCAC -3'
(R):5'- AAGTAAGCTCTCAGGGCAGG -3'

Sequencing Primer
(F):5'- TGAGGCTATCACAGTTCTGC -3'
(R):5'- GTGCTCTTCCACATGCCACAG -3'

Posted On

2016-10-06