Mutagenetix > Incidental Mutation

Incidental Mutation 'R0569:Enox1'

46325

Institutional Source

Beutler Lab

Gene Symbol

Enox1

Ensembl Gene

ENSMUSG00000022012

Gene Name

ecto-NOX disulfide-thiol exchanger 1

Synonyms

D230005D02Rik

MMRRC Submission

038760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0569 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

77394203-77959200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77875117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 441 (D441E)

Ref Sequence

ENSEMBL: ENSMUSP00000022589 (fasta)

Gene Model

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

AlphaFold

Q8BHR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022589
AA Change: D441E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: D441E

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

possibly damaging
Transcript: ENSMUST00000227662
AA Change: D460E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000227831

Meta Mutation Damage Score

0.0719

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,621,016 (GRCm39)	I572M	possibly damaging	Het
4930447A16Rik	T	C	15: 37,425,863 (GRCm39)	M1T	probably null	Het
4930590J08Rik	C	A	6: 91,919,559 (GRCm39)	C739*	probably null	Het
Adcy1	T	A	11: 7,096,514 (GRCm39)	V634E	probably benign	Het
Ankfy1	T	A	11: 72,644,434 (GRCm39)	H710Q	possibly damaging	Het
Ankrd60	C	T	2: 173,412,859 (GRCm39)	V90M	probably damaging	Het
Asgr2	A	T	11: 69,988,703 (GRCm39)	Q132L	probably benign	Het
Cchcr1	T	A	17: 35,839,865 (GRCm39)		probably null	Het
Ces1h	T	C	8: 94,078,774 (GRCm39)	K523E	unknown	Het
Clec3a	G	T	8: 115,152,476 (GRCm39)	G161C	probably damaging	Het
Cracr2b	G	A	7: 141,044,848 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,597,160 (GRCm39)	L17F	probably damaging	Het
Dhx29	T	A	13: 113,084,748 (GRCm39)	N655K	probably benign	Het
Dst	C	A	1: 34,332,508 (GRCm39)	L4748I	probably damaging	Het
Eif2b5	G	C	16: 20,321,303 (GRCm39)	L285F	probably benign	Het
Fam110a	T	C	2: 151,812,404 (GRCm39)	E122G	probably damaging	Het
Fam161b	T	A	12: 84,395,413 (GRCm39)	E510V	probably damaging	Het
Gabrd	T	C	4: 155,469,880 (GRCm39)	Y443C	probably damaging	Het
Gcn1	T	G	5: 115,733,118 (GRCm39)	S1052A	probably benign	Het
Gnptab	A	G	10: 88,264,419 (GRCm39)	E279G	possibly damaging	Het
Hoxa6	T	A	6: 52,185,163 (GRCm39)		probably null	Het
Ibtk	T	A	9: 85,590,234 (GRCm39)		probably benign	Het
Il6ra	A	T	3: 89,785,149 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,032 (GRCm39)		probably benign	Het
Kcnk2	A	C	1: 189,071,998 (GRCm39)	L110R	probably damaging	Het
Knl1	T	A	2: 118,927,916 (GRCm39)	V1919D	possibly damaging	Het
Lrp1b	A	T	2: 40,779,251 (GRCm39)	L2597Q	probably benign	Het
Magi3	A	G	3: 103,923,358 (GRCm39)	S1120P	probably benign	Het
Map3k8	T	C	18: 4,349,162 (GRCm39)	D52G	probably benign	Het
Mcat	C	T	15: 83,433,449 (GRCm39)	R198H	probably benign	Het
Mnd1	A	G	3: 84,012,286 (GRCm39)	V141A	probably benign	Het
Morc1	T	C	16: 48,407,485 (GRCm39)	L667P	probably benign	Het
Mrps6	A	G	16: 91,908,808 (GRCm39)	K125E	possibly damaging	Het
Mst1	T	C	9: 107,959,500 (GRCm39)	F262S	probably damaging	Het
Or5j3	T	G	2: 86,128,941 (GRCm39)	I260M	probably damaging	Het
Or7e178	T	A	9: 20,225,875 (GRCm39)	I114F	probably damaging	Het
Pbsn	C	G	X: 76,897,046 (GRCm39)	G15A	possibly damaging	Het
Pcnx1	T	C	12: 82,038,804 (GRCm39)	I2023T	probably benign	Het
Pds5a	T	G	5: 65,813,744 (GRCm39)	N247T	probably damaging	Het
Peak1	T	C	9: 56,167,373 (GRCm39)	Y185C	probably damaging	Het
Phkb	T	A	8: 86,744,031 (GRCm39)	I560N	probably damaging	Het
Plekhn1	T	C	4: 156,309,658 (GRCm39)	I160V	probably damaging	Het
Rabgap1	T	G	2: 37,379,729 (GRCm39)		probably benign	Het
Rdh10	T	G	1: 16,199,517 (GRCm39)	V241G	probably damaging	Het
Selenow	A	T	7: 15,654,042 (GRCm39)	C37S	probably benign	Het
Sema6a	A	T	18: 47,403,872 (GRCm39)		probably null	Het
Slc12a3	T	C	8: 95,057,153 (GRCm39)		probably null	Het
Slc22a21	T	G	11: 53,842,636 (GRCm39)	M498L	probably benign	Het
Spink5	A	T	18: 44,122,486 (GRCm39)	N317I	probably damaging	Het
Srek1	A	G	13: 103,885,370 (GRCm39)		probably benign	Het
Syt11	A	G	3: 88,655,230 (GRCm39)	V357A	probably benign	Het
Tcof1	T	A	18: 60,962,107 (GRCm39)	K707N	possibly damaging	Het
Tfip11	C	T	5: 112,475,960 (GRCm39)	R42C	probably damaging	Het
Trim39	T	C	17: 36,574,623 (GRCm39)	K260E	probably benign	Het
Ttn	T	C	2: 76,553,663 (GRCm39)	T22658A	possibly damaging	Het
Unc45b	C	T	11: 82,827,638 (GRCm39)		probably benign	Het
Vmn1r236	A	G	17: 21,507,172 (GRCm39)	I97V	probably benign	Het
Vps13c	T	C	9: 67,881,001 (GRCm39)	V657A	probably damaging	Het
Zkscan2	A	G	7: 123,097,898 (GRCm39)	V166A	probably benign	Het

Other mutations in Enox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Enox1	APN	14	77,819,844 (GRCm39)	missense	possibly damaging	0.63
IGL01376:Enox1	APN	14	77,489,283 (GRCm39)	intron	probably benign
IGL01509:Enox1	APN	14	77,936,713 (GRCm39)	missense	probably damaging	1.00
IGL01684:Enox1	APN	14	77,816,533 (GRCm39)	missense	possibly damaging	0.81
IGL01874:Enox1	APN	14	77,816,602 (GRCm39)	missense	probably damaging	1.00
IGL03324:Enox1	APN	14	77,852,925 (GRCm39)	missense	probably damaging	1.00
Soft	UTSW	14	77,723,457 (GRCm39)	intron	probably benign
R0037:Enox1	UTSW	14	77,936,750 (GRCm39)	splice site	probably benign
R0112:Enox1	UTSW	14	77,936,638 (GRCm39)	missense	possibly damaging	0.77
R0543:Enox1	UTSW	14	77,744,399 (GRCm39)	splice site	probably benign
R0708:Enox1	UTSW	14	77,830,352 (GRCm39)	missense	probably benign	0.28
R0811:Enox1	UTSW	14	77,819,876 (GRCm39)	missense	probably damaging	0.99
R0812:Enox1	UTSW	14	77,819,876 (GRCm39)	missense	probably damaging	0.99
R1417:Enox1	UTSW	14	77,723,445 (GRCm39)	intron	probably benign
R1654:Enox1	UTSW	14	77,848,814 (GRCm39)	missense	possibly damaging	0.87
R1678:Enox1	UTSW	14	77,815,096 (GRCm39)	missense	probably benign	0.00
R1817:Enox1	UTSW	14	77,852,915 (GRCm39)	missense	possibly damaging	0.84
R1976:Enox1	UTSW	14	77,906,233 (GRCm39)	missense	probably benign
R2520:Enox1	UTSW	14	77,819,839 (GRCm39)	missense	probably damaging	0.99
R3880:Enox1	UTSW	14	77,848,826 (GRCm39)	missense	possibly damaging	0.49
R4096:Enox1	UTSW	14	77,815,160 (GRCm39)	missense	probably damaging	0.99
R4885:Enox1	UTSW	14	77,958,290 (GRCm39)	missense	probably damaging	1.00
R4998:Enox1	UTSW	14	77,738,875 (GRCm39)	intron	probably benign
R5110:Enox1	UTSW	14	77,945,127 (GRCm39)	critical splice donor site	probably null
R5341:Enox1	UTSW	14	77,815,096 (GRCm39)	missense	possibly damaging	0.94
R5469:Enox1	UTSW	14	77,830,414 (GRCm39)	missense	probably benign	0.00
R5596:Enox1	UTSW	14	77,816,493 (GRCm39)	missense	probably benign	0.42
R5833:Enox1	UTSW	14	77,744,379 (GRCm39)	missense	probably benign	0.01
R5892:Enox1	UTSW	14	77,723,457 (GRCm39)	intron	probably benign
R6174:Enox1	UTSW	14	77,745,627 (GRCm39)	missense	possibly damaging	0.93
R6267:Enox1	UTSW	14	77,815,204 (GRCm39)	missense	probably damaging	1.00
R6867:Enox1	UTSW	14	77,936,739 (GRCm39)	critical splice donor site	probably null
R7069:Enox1	UTSW	14	77,848,764 (GRCm39)	missense	probably damaging	0.99
R7219:Enox1	UTSW	14	77,958,284 (GRCm39)	missense	probably benign	0.15
R7316:Enox1	UTSW	14	77,958,298 (GRCm39)	missense	probably benign	0.01
R7738:Enox1	UTSW	14	77,815,220 (GRCm39)	missense	probably damaging	0.99
R8495:Enox1	UTSW	14	77,870,012 (GRCm39)	missense	probably benign	0.00
R8838:Enox1	UTSW	14	77,819,950 (GRCm39)	missense	probably benign
R9251:Enox1	UTSW	14	77,852,997 (GRCm39)	critical splice donor site	probably null
Z1177:Enox1	UTSW	14	77,906,187 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAAAGAACCCTGAGGCTTGGCTATC -3'
(R):5'- GCATGGCTTTGTCCAGCTTTCAAC -3'

Sequencing Primer
(F):5'- GCTATCAGGGTTTAACGTCTGAG -3'
(R):5'- TAGATGTCCCAAGAGTCTCCG -3'

Posted On

2013-06-11