Mutagenetix > Incidental Mutation

Incidental Mutation 'R0112:Enox1'

20542

Institutional Source

Beutler Lab

Gene Symbol

Enox1

Ensembl Gene

ENSMUSG00000022012

Gene Name

ecto-NOX disulfide-thiol exchanger 1

Synonyms

D230005D02Rik

MMRRC Submission

038398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0112 (G1)

Quality Score

196

Status

Validated (trace)

Chromosome

Chromosomal Location

77394203-77959200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77936638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 539 (I539F)

Ref Sequence

ENSEMBL: ENSMUSP00000022589 (fasta)

Gene Model

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

AlphaFold

Q8BHR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022589
AA Change: I539F

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: I539F

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

possibly damaging
Transcript: ENSMUST00000227662
AA Change: I558F

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000227831

Meta Mutation Damage Score

0.1168

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,870,600 (GRCm39)	R351L	probably damaging	Het
Axin2	T	C	11: 108,830,223 (GRCm39)	S348P	possibly damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Galnt14	T	G	17: 73,881,979 (GRCm39)		probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Gp6	C	A	7: 4,373,183 (GRCm39)	A247S	probably benign	Het
Gp6	G	C	7: 4,374,626 (GRCm39)	P232A	probably benign	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trf	A	G	9: 103,104,155 (GRCm39)		probably benign	Het
Trp53	T	G	11: 69,479,505 (GRCm39)	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		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
R0543:Enox1	UTSW	14	77,744,399 (GRCm39)	splice site	probably benign
R0569:Enox1	UTSW	14	77,875,117 (GRCm39)	missense	probably damaging	0.99
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'- AGCCCATCCTGAAGTCCATGCTTG -3'
(R):5'- GCCAGTCTCTATGACACGCACTTG -3'

Sequencing Primer
(F):5'- GAAGTCCATGCTTGTTCAGTC -3'
(R):5'- CTCTATGACACGCACTTGAGATG -3'

Posted On

2013-04-11