Mutagenetix > Incidental Mutation

Incidental Mutation 'R7766:Duox1'

598225

Institutional Source

Beutler Lab

Gene Symbol

Duox1

Ensembl Gene

ENSMUSG00000033268

Gene Name

dual oxidase 1

Synonyms

NOXEF1, LNOX1, 9930101G15Rik, THOX1

MMRRC Submission

045822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122146153-122178453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122167782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1022 (F1022L)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

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

AlphaFold

A2AQ92

Predicted Effect

probably benign
Transcript: ENSMUST00000099461
AA Change: F1022L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: F1022L

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

0.0744

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,300 (GRCm39)	F58S	probably benign	Het
Abca2	T	A	2: 25,331,540 (GRCm39)	M1309K	probably benign	Het
Ascc1	A	T	10: 59,840,641 (GRCm39)	M1L	probably damaging	Het
Ccdc85b	A	T	19: 5,506,880 (GRCm39)	S182R	probably damaging	Het
Cnpy3	G	T	17: 47,048,161 (GRCm39)	Q185K	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,827 (GRCm39)	Y25H	probably damaging	Het
Dscam	A	T	16: 96,592,101 (GRCm39)	F725I	probably benign	Het
Ednrb	A	G	14: 104,080,725 (GRCm39)	L63P	probably benign	Het
Egr4	C	T	6: 85,489,181 (GRCm39)	G293D	probably damaging	Het
Fv1	T	A	4: 147,953,727 (GRCm39)	F98I	possibly damaging	Het
Gfm2	C	T	13: 97,286,908 (GRCm39)	S169F	probably damaging	Het
Hexim2	C	G	11: 103,029,838 (GRCm39)	P297A	probably benign	Het
Hnrnpab	G	A	11: 51,492,293 (GRCm39)	T314I	unknown	Het
Ift88	T	C	14: 57,685,111 (GRCm39)	F309S	possibly damaging	Het
Ins2	T	A	7: 142,232,494 (GRCm39)	T97S	probably benign	Het
Itga2	T	C	13: 114,990,427 (GRCm39)	I905V	probably benign	Het
Itgb8	T	C	12: 119,127,094 (GRCm39)	Y720C	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna6	T	A	6: 126,716,682 (GRCm39)	D69V	probably damaging	Het
Kcp	A	G	6: 29,496,846 (GRCm39)	C588R	probably damaging	Het
Lrrc17	A	T	5: 21,766,042 (GRCm39)	T175S	probably benign	Het
Morc2b	A	T	17: 33,357,397 (GRCm39)	M125K	probably benign	Het
Ms4a4b	A	C	19: 11,427,352 (GRCm39)	M24L	probably benign	Het
Myh13	A	C	11: 67,249,155 (GRCm39)	S1292R	probably benign	Het
Nat10	T	C	2: 103,556,052 (GRCm39)	D923G	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipbl	T	C	15: 8,326,333 (GRCm39)	I2425M	probably benign	Het
Oasl1	G	T	5: 115,075,169 (GRCm39)	A410S	probably damaging	Het
Or52d1	T	A	7: 103,756,201 (GRCm39)	C238*	probably null	Het
Or5p80	C	T	7: 108,229,583 (GRCm39)	S128F	probably benign	Het
Or9g4b	T	A	2: 85,616,002 (GRCm39)	I49N	probably damaging	Het
Padi6	T	C	4: 140,458,286 (GRCm39)	K507E	probably benign	Het
Pdcl2	T	C	5: 76,465,743 (GRCm39)	N159S	probably benign	Het
Pla2g4a	T	C	1: 149,736,809 (GRCm39)	K445E	probably benign	Het
Plxnb2	A	G	15: 89,045,474 (GRCm39)	S1028P	probably benign	Het
Polb	T	C	8: 23,143,107 (GRCm39)	S30G	probably benign	Het
Pramel23	T	A	4: 143,425,809 (GRCm39)	I45F	probably damaging	Het
Slc17a6	A	T	7: 51,318,914 (GRCm39)	I519F	probably benign	Het
Tacc2	C	T	7: 130,345,328 (GRCm39)	H2582Y	probably damaging	Het
Tmem176a	A	T	6: 48,821,116 (GRCm39)		probably null	Het
Tnr	A	T	1: 159,715,880 (GRCm39)	T881S	probably benign	Het
Trp63	A	T	16: 25,686,969 (GRCm39)	R394S	probably damaging	Het
Tsga8	A	G	X: 82,530,704 (GRCm39)	L135P	unknown	Het
Ttn	T	C	2: 76,645,042 (GRCm39)	T12938A	probably damaging	Het
Ugt2b35	A	T	5: 87,149,061 (GRCm39)	D104V	possibly damaging	Het
Usp28	T	C	9: 48,947,183 (GRCm39)	S835P	probably damaging	Het
Vmn2r44	A	T	7: 8,371,219 (GRCm39)	V609E	probably damaging	Het
Zfp180	A	G	7: 23,804,084 (GRCm39)	S168G	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
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
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'- ACTACTTGGAAGTCAGCCCTC -3'
(R):5'- ATCGGGATGTGTGTCACTCAC -3'

Sequencing Primer
(F):5'- TGGAAGTCAGCCCTCACTTAG -3'
(R):5'- GTGTCACTCACAATAGATCCCAACTC -3'

Posted On

2019-11-26