Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02126:Duox1'

280872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Duox1

Ensembl Gene

ENSMUSG00000033268

Gene Name

dual oxidase 1

Synonyms

NOXEF1, LNOX1, 9930101G15Rik, THOX1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02126

Quality Score

Status

Chromosome

Chromosomal Location

122146153-122178453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122176817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1446 (D1446G)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000099461] [ENSMUST00000110530] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000121237] [ENSMUST00000125826] [ENSMUST00000139819]

AlphaFold

A2AQ92

Predicted Effect

probably benign
Transcript: ENSMUST00000048635

SMART Domains

Protein: ENSMUSP00000045135
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	48	67	N/A	INTRINSIC
SH2	136	220	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099461
AA Change: D1446G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: D1446G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110530

SMART Domains

Protein: ENSMUSP00000106159
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	42	61	N/A	INTRINSIC
SH2	130	214	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110531

SMART Domains

Protein: ENSMUSP00000106160
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	48	67	N/A	INTRINSIC
SH2	136	220	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110532

SMART Domains

Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	45	61	N/A	INTRINSIC
low complexity region	77	87	N/A	INTRINSIC
low complexity region	146	165	N/A	INTRINSIC
Blast:SH2	225	278	2e-22	BLAST
SCOP:d1ayaa_	237	291	1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121237

SMART Domains

Protein: ENSMUSP00000113923
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	42	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125826

SMART Domains

Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	14	56	N/A	INTRINSIC
low complexity region	76	105	N/A	INTRINSIC
low complexity region	129	148	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	187	197	N/A	INTRINSIC
low complexity region	256	275	N/A	INTRINSIC
SH2	344	428	9.16e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135848

Predicted Effect

probably benign
Transcript: ENSMUST00000151130

SMART Domains

Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	6	48	N/A	INTRINSIC
low complexity region	68	97	N/A	INTRINSIC
low complexity region	121	140	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
low complexity region	248	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139819

SMART Domains

Protein: ENSMUSP00000119980
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	149	163	N/A	INTRINSIC
SH2	218	302	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143484

SMART Domains

Protein: ENSMUSP00000120732
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
SH2	71	155	3.19e-26	SMART

Coding Region Coverage

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Angptl3	T	C	4: 98,919,738 (GRCm39)		probably null	Het
Atoh1	T	C	6: 64,706,334 (GRCm39)	W10R	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Ccm2	A	G	11: 6,544,154 (GRCm39)	T317A	probably damaging	Het
Ccnt1	A	T	15: 98,465,484 (GRCm39)	W12R	probably damaging	Het
Celf1	T	A	2: 90,831,408 (GRCm39)	L79H	probably damaging	Het
Cmip	T	C	8: 118,175,770 (GRCm39)	V423A	probably damaging	Het
Ddr1	T	A	17: 35,999,481 (GRCm39)	I431F	probably damaging	Het
Dnah6	A	G	6: 73,080,149 (GRCm39)	L2343P	probably benign	Het
Erich3	A	G	3: 154,419,599 (GRCm39)	H231R	possibly damaging	Het
Fam221b	T	A	4: 43,666,450 (GRCm39)	I54F	probably benign	Het
Fcgbpl1	G	A	7: 27,839,281 (GRCm39)	V365M	probably damaging	Het
Galntl5	T	C	5: 25,394,839 (GRCm39)	F69L	possibly damaging	Het
Gba2	T	G	4: 43,567,918 (GRCm39)		probably null	Het
Gbf1	C	A	19: 46,240,556 (GRCm39)	P46Q	probably damaging	Het
Gimap6	T	G	6: 48,679,635 (GRCm39)	S134R	probably damaging	Het
Gm5424	A	C	10: 61,907,377 (GRCm39)		noncoding transcript	Het
Hexb	T	C	13: 97,314,532 (GRCm39)	K404E	possibly damaging	Het
Hs3st3a1	G	A	11: 64,327,331 (GRCm39)	V147M	probably damaging	Het
Hsd17b4	T	C	18: 50,315,063 (GRCm39)	V610A	probably benign	Het
Loxl3	T	A	6: 83,025,628 (GRCm39)	W329R	probably damaging	Het
Lrrc52	A	G	1: 167,273,575 (GRCm39)	F247S	probably damaging	Het
Naa38	C	T	11: 69,287,045 (GRCm39)	R42W	probably damaging	Het
Nadsyn1	G	A	7: 143,357,753 (GRCm39)	Q485*	probably null	Het
Nid1	A	G	13: 13,663,743 (GRCm39)		probably null	Het
Ofcc1	T	C	13: 40,362,251 (GRCm39)	T224A	probably benign	Het
Or5m11b	T	G	2: 85,806,517 (GRCm39)	I310S	probably benign	Het
Palld	A	G	8: 62,330,476 (GRCm39)	Y134H	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pfn3	T	C	13: 55,562,699 (GRCm39)	D94G	possibly damaging	Het
Pkhd1	G	A	1: 20,187,419 (GRCm39)	R3630C	probably damaging	Het
Por	T	A	5: 135,744,829 (GRCm39)	F31I	probably benign	Het
Ppp1r12c	T	C	7: 4,492,858 (GRCm39)	E127G	probably benign	Het
Ppp1r9a	T	A	6: 5,156,229 (GRCm39)	S1162T	probably damaging	Het
Psen2	C	A	1: 180,057,488 (GRCm39)	A297S	probably benign	Het
Rpusd2	G	A	2: 118,869,119 (GRCm39)	R514Q	probably damaging	Het
Rxrg	A	G	1: 167,462,029 (GRCm39)	M235V	probably damaging	Het
Sash1	T	C	10: 8,615,229 (GRCm39)	M644V	probably damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Slco1a7	T	A	6: 141,684,739 (GRCm39)	T239S	probably benign	Het
Ssu72	T	C	4: 155,816,483 (GRCm39)	I155T	probably benign	Het
Tas2r102	A	G	6: 132,739,607 (GRCm39)	R172G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trav12-2	C	A	14: 53,853,859 (GRCm39)	N2K	probably damaging	Het
Tyrp1	C	T	4: 80,755,845 (GRCm39)	Q205*	probably null	Het
Ubr4	T	A	4: 139,180,052 (GRCm39)		probably null	Het
Ush2a	A	G	1: 187,995,588 (GRCm39)	S120G	probably benign	Het
Vmn2r100	T	C	17: 19,741,504 (GRCm39)		probably benign	Het
Zer1	G	T	2: 29,994,928 (GRCm39)	T489K	probably benign	Het
Zfp955b	G	T	17: 33,521,238 (GRCm39)	G236*	probably null	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
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
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

Posted On

2015-04-16