Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Duox1'

476028

Institutional Source

Beutler Lab

Gene Symbol

Duox1

Ensembl Gene

ENSMUSG00000033268

Gene Name

dual oxidase 1

Synonyms

NOXEF1, LNOX1, 9930101G15Rik, THOX1

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122146153-122178453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122170597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1206 (Y1206H)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099461]

AlphaFold

A2AQ92

Predicted Effect

probably damaging
Transcript: ENSMUST00000099461
AA Change: Y1206H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: Y1206H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:An_peroxidase	29	557	2.1e-134	PFAM
transmembrane domain	594	616	N/A	INTRINSIC
EFh	819	847	1.82e-4	SMART
EFh	855	883	3.45e-5	SMART
transmembrane domain	1044	1066	N/A	INTRINSIC
Pfam:Ferric_reduct	1087	1236	5.3e-21	PFAM
Pfam:FAD_binding_8	1272	1374	8.5e-21	PFAM
Pfam:NAD_binding_6	1380	1534	3.5e-33	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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 a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

All alleles(6) : Targeted, other(3) Gene trapped(3)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,613 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,143,928 (GRCm39)		noncoding transcript	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Duox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Duox1	APN	2	122,163,622 (GRCm39)	missense	possibly damaging	0.55
IGL00956:Duox1	APN	2	122,153,787 (GRCm39)	missense	probably benign	0.42
IGL01413:Duox1	APN	2	122,151,191 (GRCm39)	missense	probably benign	0.03
IGL01444:Duox1	APN	2	122,170,571 (GRCm39)	missense	probably damaging	0.98
IGL01633:Duox1	APN	2	122,164,279 (GRCm39)	missense	probably benign	0.00
IGL01814:Duox1	APN	2	122,176,753 (GRCm39)	missense	probably damaging	0.99
IGL01868:Duox1	APN	2	122,168,888 (GRCm39)	missense	probably benign
IGL02096:Duox1	APN	2	122,174,655 (GRCm39)	missense	probably damaging	0.99
IGL02126:Duox1	APN	2	122,176,817 (GRCm39)	missense	probably benign	0.21
IGL02342:Duox1	APN	2	122,177,793 (GRCm39)	missense	probably damaging	1.00
IGL02687:Duox1	APN	2	122,166,896 (GRCm39)	missense	probably damaging	1.00
IGL02708:Duox1	APN	2	122,156,498 (GRCm39)	missense	possibly damaging	0.81
IGL02935:Duox1	APN	2	122,155,000 (GRCm39)	missense	possibly damaging	0.56
antiquity	UTSW	2	122,170,682 (GRCm39)	missense	probably damaging	1.00
Dejavous	UTSW	2	122,151,345 (GRCm39)	missense	probably damaging	1.00
R1706_Duox1_051	UTSW	2	122,149,953 (GRCm39)	missense	probably benign	0.01
R5032_duox1_732	UTSW	2	122,167,798 (GRCm39)	missense	probably benign
Vaguely	UTSW	2	122,156,616 (GRCm39)	nonsense	probably null
D4043:Duox1	UTSW	2	122,175,276 (GRCm39)	missense	probably benign
R0047:Duox1	UTSW	2	122,177,122 (GRCm39)	unclassified	probably benign
R0047:Duox1	UTSW	2	122,177,122 (GRCm39)	unclassified	probably benign
R0241:Duox1	UTSW	2	122,163,878 (GRCm39)	splice site	probably benign
R0479:Duox1	UTSW	2	122,176,861 (GRCm39)	missense	probably damaging	1.00
R0834:Duox1	UTSW	2	122,176,982 (GRCm39)	missense	probably damaging	1.00
R1105:Duox1	UTSW	2	122,168,183 (GRCm39)	missense	probably damaging	0.97
R1205:Duox1	UTSW	2	122,158,406 (GRCm39)	nonsense	probably null
R1281:Duox1	UTSW	2	122,157,569 (GRCm39)	missense	probably damaging	1.00
R1302:Duox1	UTSW	2	122,177,760 (GRCm39)	missense	probably benign	0.24
R1532:Duox1	UTSW	2	122,175,204 (GRCm39)	missense	probably damaging	1.00
R1706:Duox1	UTSW	2	122,149,953 (GRCm39)	missense	probably benign	0.01
R1719:Duox1	UTSW	2	122,169,125 (GRCm39)	missense	possibly damaging	0.93
R1753:Duox1	UTSW	2	122,163,910 (GRCm39)	missense	probably damaging	1.00
R1827:Duox1	UTSW	2	122,177,861 (GRCm39)	nonsense	probably null
R1828:Duox1	UTSW	2	122,177,861 (GRCm39)	nonsense	probably null
R1940:Duox1	UTSW	2	122,156,465 (GRCm39)	missense	probably benign	0.06
R1944:Duox1	UTSW	2	122,177,001 (GRCm39)	missense	probably damaging	0.99
R2069:Duox1	UTSW	2	122,163,543 (GRCm39)	missense	probably benign
R2113:Duox1	UTSW	2	122,167,735 (GRCm39)	missense	probably benign
R2202:Duox1	UTSW	2	122,175,194 (GRCm39)	missense	probably benign	0.19
R2314:Duox1	UTSW	2	122,164,211 (GRCm39)	nonsense	probably null
R2507:Duox1	UTSW	2	122,163,619 (GRCm39)	missense	probably benign	0.34
R2508:Duox1	UTSW	2	122,163,619 (GRCm39)	missense	probably benign	0.34
R3277:Duox1	UTSW	2	122,170,597 (GRCm39)	missense	probably damaging	1.00
R4124:Duox1	UTSW	2	122,167,902 (GRCm39)	missense	probably damaging	1.00
R4271:Duox1	UTSW	2	122,154,856 (GRCm39)	missense	probably damaging	0.96
R4411:Duox1	UTSW	2	122,168,115 (GRCm39)	missense	probably benign	0.30
R4419:Duox1	UTSW	2	122,157,607 (GRCm39)	missense	probably benign
R4420:Duox1	UTSW	2	122,157,607 (GRCm39)	missense	probably benign
R4578:Duox1	UTSW	2	122,164,258 (GRCm39)	missense	probably benign	0.15
R4628:Duox1	UTSW	2	122,176,733 (GRCm39)	missense	probably damaging	1.00
R4665:Duox1	UTSW	2	122,149,956 (GRCm39)	missense	probably benign	0.00
R4666:Duox1	UTSW	2	122,149,956 (GRCm39)	missense	probably benign	0.00
R4730:Duox1	UTSW	2	122,164,312 (GRCm39)	missense	probably damaging	1.00
R4767:Duox1	UTSW	2	122,163,922 (GRCm39)	missense	possibly damaging	0.79
R4857:Duox1	UTSW	2	122,146,212 (GRCm39)	missense	probably benign	0.05
R4904:Duox1	UTSW	2	122,151,345 (GRCm39)	missense	probably damaging	1.00
R5032:Duox1	UTSW	2	122,167,798 (GRCm39)	missense	probably benign
R5201:Duox1	UTSW	2	122,158,403 (GRCm39)	missense	probably benign
R5474:Duox1	UTSW	2	122,177,106 (GRCm39)	missense	probably benign	0.02
R5835:Duox1	UTSW	2	122,158,341 (GRCm39)	missense	probably benign	0.00
R5939:Duox1	UTSW	2	122,176,832 (GRCm39)	missense	probably damaging	1.00
R5941:Duox1	UTSW	2	122,174,637 (GRCm39)	missense	probably damaging	0.97
R5943:Duox1	UTSW	2	122,163,916 (GRCm39)	missense	probably benign	0.00
R5970:Duox1	UTSW	2	122,170,682 (GRCm39)	missense	probably damaging	1.00
R6023:Duox1	UTSW	2	122,168,165 (GRCm39)	missense	probably benign	0.19
R6050:Duox1	UTSW	2	122,149,956 (GRCm39)	missense	probably benign	0.00
R6064:Duox1	UTSW	2	122,151,243 (GRCm39)	missense	probably benign	0.00
R6093:Duox1	UTSW	2	122,177,755 (GRCm39)	missense	probably benign	0.01
R6188:Duox1	UTSW	2	122,150,275 (GRCm39)	missense	probably benign	0.00
R6246:Duox1	UTSW	2	122,157,655 (GRCm39)	missense	probably damaging	1.00
R6259:Duox1	UTSW	2	122,175,264 (GRCm39)	missense	probably benign	0.00
R6290:Duox1	UTSW	2	122,164,288 (GRCm39)	missense	possibly damaging	0.92
R6300:Duox1	UTSW	2	122,168,181 (GRCm39)	missense	probably damaging	0.99
R6341:Duox1	UTSW	2	122,168,202 (GRCm39)	missense	probably damaging	0.98
R6498:Duox1	UTSW	2	122,150,088 (GRCm39)	missense	probably damaging	1.00
R6883:Duox1	UTSW	2	122,155,065 (GRCm39)	splice site	probably null
R7002:Duox1	UTSW	2	122,150,358 (GRCm39)	nonsense	probably null
R7410:Duox1	UTSW	2	122,176,874 (GRCm39)	missense	probably damaging	1.00
R7421:Duox1	UTSW	2	122,153,711 (GRCm39)	missense	probably damaging	1.00
R7608:Duox1	UTSW	2	122,156,616 (GRCm39)	nonsense	probably null
R7702:Duox1	UTSW	2	122,160,120 (GRCm39)	missense	possibly damaging	0.86
R7766:Duox1	UTSW	2	122,167,782 (GRCm39)	missense	probably benign
R7833:Duox1	UTSW	2	122,154,869 (GRCm39)	missense	probably damaging	1.00
R7980:Duox1	UTSW	2	122,177,801 (GRCm39)	missense	possibly damaging	0.71
R8275:Duox1	UTSW	2	122,175,249 (GRCm39)	missense	probably benign	0.02
R8717:Duox1	UTSW	2	122,168,152 (GRCm39)	missense	possibly damaging	0.88
R8992:Duox1	UTSW	2	122,175,186 (GRCm39)	missense	probably damaging	1.00
R9196:Duox1	UTSW	2	122,150,689 (GRCm39)	missense	probably benign	0.08
R9344:Duox1	UTSW	2	122,168,163 (GRCm39)	missense	probably benign	0.14
R9397:Duox1	UTSW	2	122,150,783 (GRCm39)	missense	possibly damaging	0.48
R9491:Duox1	UTSW	2	122,156,907 (GRCm39)	missense	probably benign	0.01
R9510:Duox1	UTSW	2	122,160,023 (GRCm39)	missense	possibly damaging	0.92
R9521:Duox1	UTSW	2	122,159,216 (GRCm39)	missense	possibly damaging	0.81
R9562:Duox1	UTSW	2	122,151,203 (GRCm39)	missense	probably damaging	1.00
R9565:Duox1	UTSW	2	122,151,203 (GRCm39)	missense	probably damaging	1.00
R9569:Duox1	UTSW	2	122,148,971 (GRCm39)	missense	probably benign
Z1176:Duox1	UTSW	2	122,163,519 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-05-11