Mutagenetix > Incidental Mutation

Incidental Mutation 'R1654:Enox1'

188969

Institutional Source

Beutler Lab

Gene Symbol

Enox1

Ensembl Gene

ENSMUSG00000022012

Gene Name

ecto-NOX disulfide-thiol exchanger 1

Synonyms

D230005D02Rik

MMRRC Submission

039690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1654 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77394203-77959200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77848814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 375 (I375N)

Ref Sequence

ENSEMBL: ENSMUSP00000154512 (fasta)

Gene Model

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

AlphaFold

Q8BHR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022589
AA Change: I375N

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: I375N

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: I375N

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000227831

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	T	11: 109,688,225 (GRCm39)	S90N	probably benign	Het
Apc2	C	T	10: 80,137,676 (GRCm39)	T39I	possibly damaging	Het
Arfgef3	C	T	10: 18,500,896 (GRCm39)	R1118K	probably null	Het
Arhgef12	T	C	9: 42,908,956 (GRCm39)	D658G	possibly damaging	Het
Asph	G	T	4: 9,453,315 (GRCm39)	R736S	probably benign	Het
Bcas1	C	T	2: 170,191,166 (GRCm39)	G542E	probably damaging	Het
Brd8	A	T	18: 34,744,279 (GRCm39)	V183E	probably damaging	Het
C1rl	G	A	6: 124,470,869 (GRCm39)	G59E	probably damaging	Het
Cacna1i	C	A	15: 80,273,411 (GRCm39)	A1699D	probably damaging	Het
Card6	G	T	15: 5,128,214 (GRCm39)	Q1061K	probably benign	Het
Cd163	G	T	6: 124,294,540 (GRCm39)	C566F	probably damaging	Het
Cd84	C	T	1: 171,712,173 (GRCm39)	T263I	possibly damaging	Het
Cep63	T	C	9: 102,464,112 (GRCm39)	I740V	possibly damaging	Het
Chaf1b	C	A	16: 93,691,791 (GRCm39)	A279D	probably damaging	Het
Chsy3	A	T	18: 59,309,488 (GRCm39)	Y247F	probably damaging	Het
Cpxm1	G	A	2: 130,235,466 (GRCm39)	L509F	possibly damaging	Het
Disc1	A	T	8: 125,875,204 (GRCm39)	Q558L	possibly damaging	Het
Dnah3	A	T	7: 119,525,672 (GRCm39)	L3894Q	probably damaging	Het
Dnmt1	G	T	9: 20,847,870 (GRCm39)	T105N	possibly damaging	Het
Dock6	A	T	9: 21,716,139 (GRCm39)	L1732Q	probably damaging	Het
Dsc2	T	C	18: 20,179,303 (GRCm39)	N255S	probably benign	Het
Dsel	A	T	1: 111,790,242 (GRCm39)	Y98N	probably damaging	Het
Epha4	T	A	1: 77,351,405 (GRCm39)		probably null	Het
Fktn	A	G	4: 53,761,220 (GRCm39)	I446V	probably benign	Het
Garin4	T	C	1: 190,895,678 (GRCm39)	R322G	probably benign	Het
Gm7361	G	T	5: 26,466,097 (GRCm39)	R153L	probably damaging	Het
Grin2c	C	T	11: 115,151,679 (GRCm39)	V94I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Krt80	T	C	15: 101,249,590 (GRCm39)	K255E	probably damaging	Het
Lcn6	T	A	2: 25,570,787 (GRCm39)		probably null	Het
Lonp2	T	G	8: 87,358,078 (GRCm39)	L100V	probably damaging	Het
Lyn	G	A	4: 3,789,912 (GRCm39)	A482T	probably damaging	Het
Mapk4	A	G	18: 74,064,010 (GRCm39)	F404S	probably damaging	Het
Mast2	T	C	4: 116,173,747 (GRCm39)		probably null	Het
Medag	T	C	5: 149,345,600 (GRCm39)	Y94H	probably damaging	Het
Megf8	T	C	7: 25,037,911 (GRCm39)	L809P	possibly damaging	Het
Mgam	T	C	6: 40,734,421 (GRCm39)	S743P	probably damaging	Het
Mia2	C	A	12: 59,155,619 (GRCm39)	T445K	possibly damaging	Het
Mtcl3	A	T	10: 29,022,931 (GRCm39)		probably null	Het
Nars1	C	G	18: 64,645,120 (GRCm39)	A43P	probably damaging	Het
Nav3	T	C	10: 109,688,984 (GRCm39)	N431S	possibly damaging	Het
Ndufaf5	A	G	2: 140,019,220 (GRCm39)		probably null	Het
Nlrp1b	T	G	11: 71,072,124 (GRCm39)	E573A	probably damaging	Het
Nlrp3	T	C	11: 59,433,949 (GRCm39)	V4A	probably benign	Het
Or2y1d	G	A	11: 49,321,329 (GRCm39)	G9R	probably benign	Het
Or56b2	A	T	7: 104,337,420 (GRCm39)	Y66F	probably benign	Het
Or5ac15	T	C	16: 58,940,052 (GRCm39)	N127S	possibly damaging	Het
Pcdhb12	A	T	18: 37,569,754 (GRCm39)	D300V	probably damaging	Het
Pik3c2a	A	T	7: 115,968,083 (GRCm39)	C804S	probably benign	Het
Pkp4	A	T	2: 59,167,963 (GRCm39)	Q725L	probably damaging	Het
Ptpre	T	A	7: 135,255,657 (GRCm39)	S119T	probably benign	Het
Ptprk	G	A	10: 28,259,643 (GRCm39)	R361H	probably damaging	Het
Ptprr	T	C	10: 116,024,268 (GRCm39)	V193A	probably benign	Het
Rfx2	C	T	17: 57,115,263 (GRCm39)	A19T	probably benign	Het
Rgs4	T	A	1: 169,572,880 (GRCm39)	M19L	probably benign	Het
Rnf157	T	C	11: 116,249,541 (GRCm39)	H225R	probably damaging	Het
Rnf44	A	T	13: 54,829,592 (GRCm39)	D341E	possibly damaging	Het
Sct	T	A	7: 140,858,767 (GRCm39)	Q55L	probably damaging	Het
Sh3rf1	A	T	8: 61,814,779 (GRCm39)	H446L	possibly damaging	Het
Shisa3	A	T	5: 67,768,402 (GRCm39)	I101F	probably damaging	Het
Slc6a13	A	G	6: 121,313,885 (GRCm39)	I543V	probably benign	Het
Spef2	G	A	15: 9,634,738 (GRCm39)	A1024V	probably damaging	Het
St6galnac6	T	C	2: 32,509,521 (GRCm39)	S330P	probably damaging	Het
Stard9	G	T	2: 120,534,203 (GRCm39)	A3487S	probably benign	Het
Suclg2	T	C	6: 95,632,532 (GRCm39)	S46G	probably damaging	Het
Syne2	T	C	12: 76,147,868 (GRCm39)	V6469A	possibly damaging	Het
Tada2b	C	T	5: 36,641,139 (GRCm39)	G88D	probably damaging	Het
Tll1	A	T	8: 64,570,937 (GRCm39)		probably null	Het
Tph2	T	A	10: 115,020,712 (GRCm39)	H28L	probably benign	Het
Trmt6	C	A	2: 132,657,755 (GRCm39)	V34L	possibly damaging	Het
Ttc22	A	G	4: 106,491,408 (GRCm39)	T204A	probably damaging	Het
Umodl1	A	T	17: 31,206,942 (GRCm39)	M778L	probably benign	Het
Vcan	T	C	13: 89,810,065 (GRCm39)	H2282R	probably damaging	Het
Vmn2r77	T	A	7: 86,461,123 (GRCm39)	S816R	probably damaging	Het
Vps13c	T	A	9: 67,858,969 (GRCm39)	F2806L	probably damaging	Het
Zbtb4	C	A	11: 69,669,995 (GRCm39)	A906D	probably damaging	Het
Zscan29	A	G	2: 120,995,260 (GRCm39)	V421A	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
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
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'- AGTCTTGAAGGGAGACATCCCCAAC -3'
(R):5'- ACTCGGTACTCAGCGGTTAGTTTTG -3'

Sequencing Primer
(F):5'- ACATCATCCATAGACTCCTAGTGTC -3'
(R):5'- AGCTGCATCTCTGGACAAG -3'

Posted On

2014-05-09