Mutagenetix > Incidental Mutation

Incidental Mutation 'R6188:Duox1'

502297

Institutional Source

Beutler Lab

Gene Symbol

Duox1

Ensembl Gene

ENSMUSG00000033268

Gene Name

dual oxidase 1

Synonyms

NOXEF1, LNOX1, 9930101G15Rik, THOX1

MMRRC Submission

044328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6188 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122146153-122178453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122150275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 168 (Q168R)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

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

AlphaFold

A2AQ92

Predicted Effect

probably benign
Transcript: ENSMUST00000099461
AA Change: Q168R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: Q168R

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,850 (GRCm39)	I88F	possibly damaging	Het
4930407I10Rik	T	C	15: 81,943,471 (GRCm39)	S28P	probably benign	Het
a	A	T	2: 154,889,602 (GRCm39)	N56I	probably damaging	Het
Apoe	C	A	7: 19,432,305 (GRCm39)		probably benign	Het
Aspm	C	A	1: 139,406,977 (GRCm39)	R1955S	possibly damaging	Het
Boc	G	A	16: 44,319,911 (GRCm39)	L358F	possibly damaging	Het
Cadm2	A	T	16: 66,612,195 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,499,764 (GRCm39)	E384G	probably benign	Het
Ccl12	A	G	11: 81,993,943 (GRCm39)	T67A	probably damaging	Het
Cep120	T	C	18: 53,857,529 (GRCm39)	D312G	probably benign	Het
Cmya5	A	G	13: 93,229,952 (GRCm39)	V1712A	possibly damaging	Het
Cmya5	A	G	13: 93,233,784 (GRCm39)	S435P	possibly damaging	Het
Dmbt1	A	T	7: 130,699,361 (GRCm39)	N997Y	probably damaging	Het
Dock2	T	A	11: 34,453,396 (GRCm39)	I86F	probably damaging	Het
Epb41l4a	T	A	18: 33,965,718 (GRCm39)	I370L	probably benign	Het
Erc2	T	A	14: 28,039,208 (GRCm39)	D950E	probably damaging	Het
Exoc6b	A	G	6: 84,832,479 (GRCm39)	V405A	probably damaging	Het
F13a1	T	C	13: 37,209,752 (GRCm39)	D71G	probably benign	Het
Fam151a	A	T	4: 106,602,696 (GRCm39)	Y205F	possibly damaging	Het
Fcnb	C	A	2: 27,969,202 (GRCm39)	R165M	possibly damaging	Het
Fndc3a	C	T	14: 72,827,401 (GRCm39)	V50I	probably damaging	Het
Gm13276	C	T	4: 88,704,096 (GRCm39)	Q51*	probably null	Het
Grik1	T	C	16: 87,852,959 (GRCm39)	T75A	probably benign	Het
Grip2	A	G	6: 91,740,514 (GRCm39)	L1015P	probably damaging	Het
Hnrnpk	A	G	13: 58,541,967 (GRCm39)	F339L	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Kars1	C	T	8: 112,735,113 (GRCm39)		probably null	Het
Kpna7	G	T	5: 144,929,654 (GRCm39)	N390K	probably damaging	Het
Krt36	A	T	11: 99,993,246 (GRCm39)	S410T	probably benign	Het
Lingo4	A	G	3: 94,310,157 (GRCm39)	E365G	probably damaging	Het
Liph	T	C	16: 21,803,018 (GRCm39)	D17G	probably benign	Het
Lmbrd1	C	A	1: 24,750,626 (GRCm39)	N166K	probably benign	Het
Lypd9	T	C	11: 58,337,182 (GRCm39)	E97G	probably benign	Het
Nup155	T	C	15: 8,139,059 (GRCm39)	S44P	probably damaging	Het
Or2m12	A	G	16: 19,105,307 (GRCm39)	M62T	probably damaging	Het
Or4a72	A	T	2: 89,405,538 (GRCm39)	C177*	probably null	Het
Or5a3	A	G	19: 12,399,974 (GRCm39)	I100M	probably benign	Het
Pcdhga6	T	C	18: 37,841,324 (GRCm39)	V348A	probably benign	Het
Phc3	G	A	3: 30,991,198 (GRCm39)	Q295*	probably null	Het
Phyh	A	G	2: 4,932,301 (GRCm39)	E129G	probably damaging	Het
Polb	A	G	8: 23,137,463 (GRCm39)	S96P	probably damaging	Het
Ppp1r9a	A	T	6: 5,158,113 (GRCm39)	K1174*	probably null	Het
Ppp1r9b	C	T	11: 94,882,662 (GRCm39)	R97W	probably damaging	Het
Pttg1ip	T	C	10: 77,418,342 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,447,967 (GRCm39)		probably null	Het
Rgs20	GGAGAGAG	GGAGAG	1: 5,091,106 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,027,963 (GRCm39)	H111R	probably damaging	Het
Rmdn3	A	G	2: 118,969,831 (GRCm39)		probably null	Het
Ror2	T	A	13: 53,265,347 (GRCm39)	T570S	probably damaging	Het
Sel1l3	A	C	5: 53,313,061 (GRCm39)	I542R	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,237 (GRCm39)	F284L	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	G	15: 96,590,397 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,724,784 (GRCm39)	Y132F	probably damaging	Het
Spata31h1	A	G	10: 82,121,091 (GRCm39)	I3973T	probably damaging	Het
Tet2	T	C	3: 133,186,087 (GRCm39)	S1117G	probably benign	Het
Trav15-1-dv6-1	C	T	14: 53,797,414 (GRCm39)	A21V	probably damaging	Het
Tsr3	G	T	17: 25,460,835 (GRCm39)	D234Y	probably null	Het
Vmn1r220	A	T	13: 23,368,084 (GRCm39)	L204H	probably damaging	Het
Vmn1r3	A	T	4: 3,185,017 (GRCm39)	S97T	probably damaging	Het
Zfp599	A	G	9: 22,161,286 (GRCm39)	F293S	probably damaging	Het
Zfp983	A	G	17: 21,877,935 (GRCm39)	Y46C	probably 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
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
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'- TGGTGCTGCCCTTTCAAAG -3'
(R):5'- ATGGACAACAGCTTGAGTCAGG -3'

Sequencing Primer
(F):5'- TTTCAAAGGAGCCGCTGG -3'
(R):5'- AAGCAGCCTGGTGCCTCTAAC -3'

Posted On

2018-02-27