Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Duox2'

285636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Duox2

Ensembl Gene

ENSMUSG00000068452

Gene Name

dual oxidase 2

Synonyms

A430065P05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

122279247-122298165 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 122285153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053734]

AlphaFold

A0A494BAW1

Predicted Effect

probably benign
Transcript: ENSMUST00000053734

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:An_peroxidase	35	560	5e-131	PFAM
transmembrane domain	600	622	N/A	INTRINSIC
EFh	823	851	3.7e-5	SMART
EFh	859	887	2.09e-4	SMART
transmembrane domain	1010	1032	N/A	INTRINSIC
Pfam:Ferric_reduct	1053	1202	1.8e-22	PFAM
Pfam:FAD_binding_8	1238	1340	3.1e-20	PFAM
Pfam:NAD_binding_6	1346	1500	1.5e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155820

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 this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation fail to breed and are congenitally hypothyroid (low T4, high TSH), dwarf, and hearing impaired. Anterior pituitaries are dysplastic. Cochlear defects include delayed formation of the inner sulcus and tunnel of Corti and a thickened tectorial membrane. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	G	10: 77,982,950	N152D	possibly damaging	Het
Acsl1	A	G	8: 46,534,365	E662G	probably benign	Het
Acss3	A	G	10: 107,045,335	S262P	probably benign	Het
Agap1	T	C	1: 89,663,775	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,473,404	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,926,152	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,562,190	H485N	probably benign	Het
Atrip	A	G	9: 109,061,664	S91P	possibly damaging	Het
Bcorl1	T	C	X: 48,369,360	V590A	probably benign	Het
Brf1	C	A	12: 112,961,774	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,148,922	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,256,452	V163A	probably damaging	Het
Cct6b	T	C	11: 82,741,391	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,424	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,629,586	V434I	probably benign	Het
Cltc	C	T	11: 86,697,340	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,051,263	F473L	probably benign	Het
Dock3	T	C	9: 107,062,055	K165E	probably damaging	Het
Epha7	A	G	4: 28,821,587	S251G	possibly damaging	Het
Epn1	T	A	7: 5,095,036	V282E	probably benign	Het
Fat1	T	C	8: 45,023,659	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,256,367	I611T	possibly damaging	Het
Fgd6	G	T	10: 94,134,084	M1198I	probably damaging	Het
Frmpd4	T	A	X: 167,492,935	I379F	probably damaging	Het
Gm6614	A	T	6: 141,993,675	C197*	probably null	Het
Grk4	T	A	5: 34,694,782	D123E	probably benign	Het
Hc	T	G	2: 35,009,911		probably benign	Het
Hephl1	T	C	9: 15,069,793	Y781C	probably damaging	Het
Hfe	T	C	13: 23,706,943	E71G	probably benign	Het
Hk1	A	G	10: 62,281,140		probably benign	Het
Ifnk	G	A	4: 35,152,642		probably benign	Het
Kcnv1	C	A	15: 45,114,274	G123C	probably damaging	Het
Kdelc2	T	C	9: 53,388,479	L96S	probably damaging	Het
Klhl38	A	T	15: 58,323,237	I32N	possibly damaging	Het
Lpl	T	C	8: 68,895,800	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,953,857	S196C	probably damaging	Het
Mta1	T	C	12: 113,120,908	L91P	possibly damaging	Het
Nelfe	C	A	17: 34,854,354	D288E	probably benign	Het
Olfr491	T	A	7: 108,317,201	C102*	probably null	Het
Otof	T	C	5: 30,370,784	E1905G	probably damaging	Het
Pck2	T	C	14: 55,543,866	I148T	probably benign	Het
Plcl2	G	T	17: 50,606,397	V145F	probably damaging	Het
Plec	A	G	15: 76,172,274	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,752,089	E641G	probably damaging	Het
Ppp1r12a	C	T	10: 108,269,324	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,518,245	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,660,175		probably benign	Het
Psmb1	A	T	17: 15,490,284	M1K	probably null	Het
Pwwp2a	T	C	11: 43,705,621	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,672,753	R516W	probably damaging	Het
Rnf103	A	G	6: 71,510,188	D601G	probably benign	Het
Senp3	A	G	11: 69,674,530	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,315,683	T121P	probably damaging	Het
Srrt	G	A	5: 137,296,274	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,933,454		probably null	Het
Tas2r129	G	A	6: 132,951,394	W98*	probably null	Het
Thoc5	A	C	11: 4,926,217	M609L	probably benign	Het
Tnip1	G	A	11: 54,936,471	T155M	possibly damaging	Het
Ttn	A	G	2: 76,788,328	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,459,781	E61G	probably benign	Het
Usp32	T	C	11: 84,986,481	K151E	probably damaging	Het
Vmn2r121	T	C	X: 124,132,681	M260V	probably benign	Het
Vwa7	G	T	17: 35,020,084	R345L	probably damaging	Het
Zfp366	G	T	13: 99,234,188	R472L	possibly damaging	Het
Zfp811	A	T	17: 32,798,642	Y141*	probably null	Het
Zpbp	C	T	11: 11,415,248	E200K	probably benign	Het

Other mutations in Duox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Duox2	APN	2	122283575	missense	probably benign
IGL00790:Duox2	APN	2	122292300	missense	possibly damaging	0.63
IGL01346:Duox2	APN	2	122287202	splice site	probably benign
IGL01607:Duox2	APN	2	122292319	missense	probably benign	0.00
IGL01798:Duox2	APN	2	122281908	missense	probably damaging	1.00
IGL02000:Duox2	APN	2	122290709	missense	probably benign
IGL02219:Duox2	APN	2	122294664	missense	probably benign	0.01
IGL02276:Duox2	APN	2	122294085	missense	probably benign	0.00
IGL02447:Duox2	APN	2	122297468	missense	probably damaging	0.98
IGL02806:Duox2	APN	2	122284666	missense	probably damaging	1.00
IGL03091:Duox2	APN	2	122289474	missense	probably benign	0.03
Bedazzled	UTSW	2	122287121	missense	possibly damaging	0.76
Birthday	UTSW	2	122281871	missense	probably benign
gregorian	UTSW	2	122289345	nonsense	probably null
julian	UTSW	2	122289332	missense	probably benign	0.08
mayan	UTSW	2	122284583	missense	probably benign	0.00
minor	UTSW	2	122281496	missense	probably damaging	1.00
oaf	UTSW	2	122295176	missense	probably damaging	0.98
paltry	UTSW	2	122283060	critical splice donor site	probably null
promethius	UTSW	2	122296381	missense	probably benign
Recruit	UTSW	2	122283897	missense	possibly damaging	0.83
schlemiel	UTSW	2	122289563	missense	probably null	0.89
stumblebum	UTSW	2	122284667	missense	probably damaging	1.00
Two-bit	UTSW	2	122281002	missense	probably benign	0.42
R0049:Duox2	UTSW	2	122296686	missense	possibly damaging	0.48
R0244:Duox2	UTSW	2	122291860	missense	probably benign	0.00
R0281:Duox2	UTSW	2	122292304	missense	probably benign	0.10
R0378:Duox2	UTSW	2	122284583	missense	probably benign	0.00
R0383:Duox2	UTSW	2	122291810	critical splice donor site	probably null
R0442:Duox2	UTSW	2	122289332	missense	probably benign	0.08
R0524:Duox2	UTSW	2	122281836	missense	possibly damaging	0.80
R0560:Duox2	UTSW	2	122291554	missense	probably benign	0.04
R0562:Duox2	UTSW	2	122289599	missense	probably damaging	1.00
R0645:Duox2	UTSW	2	122292658	missense	probably damaging	1.00
R0704:Duox2	UTSW	2	122284768	missense	probably benign	0.01
R0963:Duox2	UTSW	2	122287172	missense	probably benign	0.03
R1254:Duox2	UTSW	2	122283478	missense	probably damaging	1.00
R1442:Duox2	UTSW	2	122281751	missense	probably benign	0.20
R1473:Duox2	UTSW	2	122287121	missense	possibly damaging	0.76
R1489:Duox2	UTSW	2	122293396	missense	probably benign
R1738:Duox2	UTSW	2	122293414	missense	probably damaging	1.00
R1748:Duox2	UTSW	2	122287051	missense	probably benign	0.00
R1809:Duox2	UTSW	2	122283897	missense	possibly damaging	0.83
R1843:Duox2	UTSW	2	122292258	critical splice donor site	probably null
R1903:Duox2	UTSW	2	122295351	missense	probably damaging	1.00
R1962:Duox2	UTSW	2	122297372	splice site	probably null
R2069:Duox2	UTSW	2	122287108	missense	probably benign	0.01
R2073:Duox2	UTSW	2	122295158	missense	probably damaging	1.00
R2074:Duox2	UTSW	2	122295158	missense	probably damaging	1.00
R2075:Duox2	UTSW	2	122295158	missense	probably damaging	1.00
R2085:Duox2	UTSW	2	122280967	missense	probably damaging	1.00
R3123:Duox2	UTSW	2	122281073	splice site	probably benign
R3907:Duox2	UTSW	2	122283060	critical splice donor site	probably null
R4572:Duox2	UTSW	2	122281726	missense	probably benign	0.00
R4614:Duox2	UTSW	2	122289557	missense	probably damaging	1.00
R4675:Duox2	UTSW	2	122280933	missense	probably damaging	1.00
R4770:Duox2	UTSW	2	122284916	missense	probably benign	0.01
R4817:Duox2	UTSW	2	122296515	missense	probably damaging	0.98
R4931:Duox2	UTSW	2	122296755	missense	probably benign	0.01
R5138:Duox2	UTSW	2	122297531	missense	probably damaging	1.00
R5288:Duox2	UTSW	2	122295136	missense	probably benign
R5344:Duox2	UTSW	2	122281871	missense	probably benign
R5385:Duox2	UTSW	2	122295136	missense	probably benign
R5386:Duox2	UTSW	2	122295136	missense	probably benign
R5493:Duox2	UTSW	2	122281496	missense	probably damaging	1.00
R5632:Duox2	UTSW	2	122281455	missense	probably damaging	1.00
R5742:Duox2	UTSW	2	122284921	missense	probably benign	0.00
R6228:Duox2	UTSW	2	122287193	missense	probably benign	0.38
R6380:Duox2	UTSW	2	122281002	missense	probably benign	0.42
R6398:Duox2	UTSW	2	122296370	missense	probably benign	0.06
R6409:Duox2	UTSW	2	122284667	missense	probably damaging	1.00
R6527:Duox2	UTSW	2	122294614	missense	probably benign	0.29
R6596:Duox2	UTSW	2	122285338	missense	probably benign
R6719:Duox2	UTSW	2	122284386	splice site	probably null
R6981:Duox2	UTSW	2	122291227	missense	possibly damaging	0.95
R7036:Duox2	UTSW	2	122280453	missense	probably damaging	1.00
R7073:Duox2	UTSW	2	122289307	missense	probably damaging	1.00
R7105:Duox2	UTSW	2	122289552	missense	possibly damaging	0.93
R7127:Duox2	UTSW	2	122291949	missense	probably benign	0.02
R7259:Duox2	UTSW	2	122295176	missense	probably damaging	0.98
R7698:Duox2	UTSW	2	122280764	missense	probably damaging	1.00
R7999:Duox2	UTSW	2	122283467	missense	probably benign	0.00
R8103:Duox2	UTSW	2	122287054	missense	probably benign
R8231:Duox2	UTSW	2	122289563	missense	possibly damaging	0.55
R8439:Duox2	UTSW	2	122298155	missense	probably benign
R8712:Duox2	UTSW	2	122289345	nonsense	probably null
R8887:Duox2	UTSW	2	122289563	missense	probably null	0.89
R8909:Duox2	UTSW	2	122296381	missense	probably benign
R9022:Duox2	UTSW	2	122280438	makesense	probably null
R9350:Duox2	UTSW	2	122285248	nonsense	probably null
R9727:Duox2	UTSW	2	122286517	nonsense	probably null
Z1176:Duox2	UTSW	2	122296507	missense	probably damaging	1.00
Z1177:Duox2	UTSW	2	122293452	missense	probably damaging	0.98

Posted On

2015-04-16