Mutagenetix > Incidental Mutation

Incidental Mutation 'R6023:Duox1'

479022

Institutional Source

Beutler Lab

Gene Symbol

Duox1

Ensembl Gene

ENSMUSG00000033268

Gene Name

dual oxidase 1

Synonyms

NOXEF1, LNOX1, 9930101G15Rik, THOX1

MMRRC Submission

044195-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6023 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122146153-122178453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122168165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 1097 (F1097V)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

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

AlphaFold

A2AQ92

Predicted Effect

probably benign
Transcript: ENSMUST00000099461
AA Change: F1097V

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: F1097V

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

Meta Mutation Damage Score

0.2780

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,843 (GRCm39)	N1302S	possibly damaging	Het
Aff3	A	T	1: 38,257,451 (GRCm39)	S424T	probably damaging	Het
Ap2b1	C	T	11: 83,226,224 (GRCm39)	T207M	probably damaging	Het
Appl2	T	C	10: 83,484,393 (GRCm39)	Q18R	probably null	Het
Atrn	T	C	2: 130,862,900 (GRCm39)	F1327L	probably benign	Het
Birc6	A	T	17: 74,961,372 (GRCm39)	I47F	probably benign	Het
Cdh23	A	T	10: 60,301,321 (GRCm39)	I451N	probably damaging	Het
Clec3a	A	G	8: 115,144,883 (GRCm39)	T20A	possibly damaging	Het
Cpz	T	A	5: 35,669,922 (GRCm39)	I252F	probably benign	Het
Ctc1	A	G	11: 68,913,433 (GRCm39)	D143G	probably benign	Het
Dhrs1	A	T	14: 55,981,127 (GRCm39)	Y94*	probably null	Het
Dnajc25	A	G	4: 59,013,752 (GRCm39)	K157E	possibly damaging	Het
Dpp6	T	C	5: 27,928,545 (GRCm39)	I789T	probably damaging	Het
Ercc8	A	G	13: 108,315,111 (GRCm39)	T242A	probably damaging	Het
Evc2	T	A	5: 37,505,960 (GRCm39)	M93K	probably benign	Het
Glra1	A	T	11: 55,424,679 (GRCm39)	V94E	probably damaging	Het
Got1l1	A	T	8: 27,689,932 (GRCm39)	Y151*	probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Ighv1-72	T	A	12: 115,721,532 (GRCm39)		probably benign	Het
Kel	C	A	6: 41,674,409 (GRCm39)	E340D	probably benign	Het
Kif11	A	G	19: 37,379,158 (GRCm39)	E283G	probably damaging	Het
Klk4	T	G	7: 43,533,482 (GRCm39)	F114V	probably benign	Het
Krt7	T	C	15: 101,310,278 (GRCm39)		probably benign	Het
Lrrc74a	A	G	12: 86,805,380 (GRCm39)	I401V	probably damaging	Het
Luzp2	T	C	7: 54,707,815 (GRCm39)	S68P	possibly damaging	Het
Naip1	T	C	13: 100,562,694 (GRCm39)	T824A	probably benign	Het
Nav3	T	C	10: 109,659,376 (GRCm39)	Q747R	possibly damaging	Het
Or13p4	T	A	4: 118,547,271 (GRCm39)	Y126F	probably damaging	Het
Or1j11	A	G	2: 36,311,523 (GRCm39)	T38A	probably damaging	Het
Or4c107	A	G	2: 88,789,059 (GRCm39)	D83G	possibly damaging	Het
Or51f1	T	C	7: 102,506,169 (GRCm39)	I107V	possibly damaging	Het
Or52h2	T	C	7: 103,838,880 (GRCm39)	H178R	probably damaging	Het
Or5b120	A	G	19: 13,480,067 (GRCm39)	D120G	probably damaging	Het
Or7g22	A	C	9: 19,049,021 (GRCm39)	H244P	probably damaging	Het
Pcdhb11	T	C	18: 37,555,978 (GRCm39)	I436T	possibly damaging	Het
Pfdn2	T	C	1: 171,184,319 (GRCm39)	Y65H	probably damaging	Het
Polr2h	T	C	16: 20,537,776 (GRCm39)	Y58H	probably benign	Het
Prrt4	G	A	6: 29,176,452 (GRCm39)	P291L	probably benign	Het
Psg29	G	T	7: 16,944,437 (GRCm39)	V316L	possibly damaging	Het
Rnf112	T	A	11: 61,340,555 (GRCm39)	E525V	probably damaging	Het
Sgms1	T	C	19: 32,101,773 (GRCm39)	K411R	probably benign	Het
Sh3tc1	T	A	5: 35,864,295 (GRCm39)	K631*	probably null	Het
Syne1	T	C	10: 5,393,223 (GRCm39)	M48V	probably benign	Het
Thrb	C	T	14: 18,011,209 (GRCm38)	T226I	probably damaging	Het
Trim67	A	T	8: 125,541,843 (GRCm39)	D347V	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	G	T	2: 76,565,744 (GRCm39)	L19876I	probably damaging	Het
Vars1	C	T	17: 35,220,585 (GRCm39)	R56C	probably damaging	Het
Vmn1r9	A	G	6: 57,048,239 (GRCm39)	I105V	probably benign	Het
Vps8	C	A	16: 21,279,988 (GRCm39)	T313K	probably benign	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
R3177:Duox1	UTSW	2	122,170,597 (GRCm39)	missense	probably damaging	1.00
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
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

PCR Primer
(F):5'- TGAGTGACACACATCCCGATG -3'
(R):5'- GGGCTTCATTTCATCCCACAG -3'

Sequencing Primer
(F):5'- CCCGATGTAGGGTTGGGG -3'
(R):5'- CCTTATCGACATTAAAGTTAGGTGC -3'

Posted On

2017-06-26