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

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 122115634 bp (GRCm39)

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
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	Het

Other mutations in Duox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Duox2	APN	2	122,114,056 (GRCm39)	missense	probably benign
IGL00790:Duox2	APN	2	122,122,781 (GRCm39)	missense	possibly damaging	0.63
IGL01346:Duox2	APN	2	122,117,683 (GRCm39)	splice site	probably benign
IGL01607:Duox2	APN	2	122,122,800 (GRCm39)	missense	probably benign	0.00
IGL01798:Duox2	APN	2	122,112,389 (GRCm39)	missense	probably damaging	1.00
IGL02000:Duox2	APN	2	122,121,190 (GRCm39)	missense	probably benign
IGL02219:Duox2	APN	2	122,125,145 (GRCm39)	missense	probably benign	0.01
IGL02276:Duox2	APN	2	122,124,566 (GRCm39)	missense	probably benign	0.00
IGL02447:Duox2	APN	2	122,127,949 (GRCm39)	missense	probably damaging	0.98
IGL02806:Duox2	APN	2	122,115,147 (GRCm39)	missense	probably damaging	1.00
IGL03091:Duox2	APN	2	122,119,955 (GRCm39)	missense	probably benign	0.03
Bedazzled	UTSW	2	122,117,602 (GRCm39)	missense	possibly damaging	0.76
Birthday	UTSW	2	122,112,352 (GRCm39)	missense	probably benign
gregorian	UTSW	2	122,119,826 (GRCm39)	nonsense	probably null
julian	UTSW	2	122,119,813 (GRCm39)	missense	probably benign	0.08
mayan	UTSW	2	122,115,064 (GRCm39)	missense	probably benign	0.00
minor	UTSW	2	122,111,977 (GRCm39)	missense	probably damaging	1.00
oaf	UTSW	2	122,125,657 (GRCm39)	missense	probably damaging	0.98
paltry	UTSW	2	122,113,541 (GRCm39)	critical splice donor site	probably null
promethius	UTSW	2	122,126,862 (GRCm39)	missense	probably benign
Recruit	UTSW	2	122,114,378 (GRCm39)	missense	possibly damaging	0.83
schlemiel	UTSW	2	122,120,044 (GRCm39)	missense	probably null	0.89
stumblebum	UTSW	2	122,115,148 (GRCm39)	missense	probably damaging	1.00
Two-bit	UTSW	2	122,111,483 (GRCm39)	missense	probably benign	0.42
R0049:Duox2	UTSW	2	122,127,167 (GRCm39)	missense	possibly damaging	0.48
R0244:Duox2	UTSW	2	122,122,341 (GRCm39)	missense	probably benign	0.00
R0281:Duox2	UTSW	2	122,122,785 (GRCm39)	missense	probably benign	0.10
R0378:Duox2	UTSW	2	122,115,064 (GRCm39)	missense	probably benign	0.00
R0383:Duox2	UTSW	2	122,122,291 (GRCm39)	critical splice donor site	probably null
R0442:Duox2	UTSW	2	122,119,813 (GRCm39)	missense	probably benign	0.08
R0524:Duox2	UTSW	2	122,112,317 (GRCm39)	missense	possibly damaging	0.80
R0560:Duox2	UTSW	2	122,122,035 (GRCm39)	missense	probably benign	0.04
R0562:Duox2	UTSW	2	122,120,080 (GRCm39)	missense	probably damaging	1.00
R0645:Duox2	UTSW	2	122,123,139 (GRCm39)	missense	probably damaging	1.00
R0704:Duox2	UTSW	2	122,115,249 (GRCm39)	missense	probably benign	0.01
R0963:Duox2	UTSW	2	122,117,653 (GRCm39)	missense	probably benign	0.03
R1254:Duox2	UTSW	2	122,113,959 (GRCm39)	missense	probably damaging	1.00
R1442:Duox2	UTSW	2	122,112,232 (GRCm39)	missense	probably benign	0.20
R1473:Duox2	UTSW	2	122,117,602 (GRCm39)	missense	possibly damaging	0.76
R1489:Duox2	UTSW	2	122,123,877 (GRCm39)	missense	probably benign
R1738:Duox2	UTSW	2	122,123,895 (GRCm39)	missense	probably damaging	1.00
R1748:Duox2	UTSW	2	122,117,532 (GRCm39)	missense	probably benign	0.00
R1809:Duox2	UTSW	2	122,114,378 (GRCm39)	missense	possibly damaging	0.83
R1843:Duox2	UTSW	2	122,122,739 (GRCm39)	critical splice donor site	probably null
R1903:Duox2	UTSW	2	122,125,832 (GRCm39)	missense	probably damaging	1.00
R1962:Duox2	UTSW	2	122,127,853 (GRCm39)	splice site	probably null
R2069:Duox2	UTSW	2	122,117,589 (GRCm39)	missense	probably benign	0.01
R2073:Duox2	UTSW	2	122,125,639 (GRCm39)	missense	probably damaging	1.00
R2074:Duox2	UTSW	2	122,125,639 (GRCm39)	missense	probably damaging	1.00
R2075:Duox2	UTSW	2	122,125,639 (GRCm39)	missense	probably damaging	1.00
R2085:Duox2	UTSW	2	122,111,448 (GRCm39)	missense	probably damaging	1.00
R3123:Duox2	UTSW	2	122,111,554 (GRCm39)	splice site	probably benign
R3907:Duox2	UTSW	2	122,113,541 (GRCm39)	critical splice donor site	probably null
R4572:Duox2	UTSW	2	122,112,207 (GRCm39)	missense	probably benign	0.00
R4614:Duox2	UTSW	2	122,120,038 (GRCm39)	missense	probably damaging	1.00
R4675:Duox2	UTSW	2	122,111,414 (GRCm39)	missense	probably damaging	1.00
R4770:Duox2	UTSW	2	122,115,397 (GRCm39)	missense	probably benign	0.01
R4817:Duox2	UTSW	2	122,126,996 (GRCm39)	missense	probably damaging	0.98
R4931:Duox2	UTSW	2	122,127,236 (GRCm39)	missense	probably benign	0.01
R5138:Duox2	UTSW	2	122,128,012 (GRCm39)	missense	probably damaging	1.00
R5288:Duox2	UTSW	2	122,125,617 (GRCm39)	missense	probably benign
R5344:Duox2	UTSW	2	122,112,352 (GRCm39)	missense	probably benign
R5385:Duox2	UTSW	2	122,125,617 (GRCm39)	missense	probably benign
R5386:Duox2	UTSW	2	122,125,617 (GRCm39)	missense	probably benign
R5493:Duox2	UTSW	2	122,111,977 (GRCm39)	missense	probably damaging	1.00
R5632:Duox2	UTSW	2	122,111,936 (GRCm39)	missense	probably damaging	1.00
R5742:Duox2	UTSW	2	122,115,402 (GRCm39)	missense	probably benign	0.00
R6228:Duox2	UTSW	2	122,117,674 (GRCm39)	missense	probably benign	0.38
R6380:Duox2	UTSW	2	122,111,483 (GRCm39)	missense	probably benign	0.42
R6398:Duox2	UTSW	2	122,126,851 (GRCm39)	missense	probably benign	0.06
R6409:Duox2	UTSW	2	122,115,148 (GRCm39)	missense	probably damaging	1.00
R6527:Duox2	UTSW	2	122,125,095 (GRCm39)	missense	probably benign	0.29
R6596:Duox2	UTSW	2	122,115,819 (GRCm39)	missense	probably benign
R6719:Duox2	UTSW	2	122,114,867 (GRCm39)	splice site	probably null
R6981:Duox2	UTSW	2	122,121,708 (GRCm39)	missense	possibly damaging	0.95
R7036:Duox2	UTSW	2	122,110,934 (GRCm39)	missense	probably damaging	1.00
R7073:Duox2	UTSW	2	122,119,788 (GRCm39)	missense	probably damaging	1.00
R7105:Duox2	UTSW	2	122,120,033 (GRCm39)	missense	possibly damaging	0.93
R7127:Duox2	UTSW	2	122,122,430 (GRCm39)	missense	probably benign	0.02
R7259:Duox2	UTSW	2	122,125,657 (GRCm39)	missense	probably damaging	0.98
R7698:Duox2	UTSW	2	122,111,245 (GRCm39)	missense	probably damaging	1.00
R7999:Duox2	UTSW	2	122,113,948 (GRCm39)	missense	probably benign	0.00
R8103:Duox2	UTSW	2	122,117,535 (GRCm39)	missense	probably benign
R8231:Duox2	UTSW	2	122,120,044 (GRCm39)	missense	possibly damaging	0.55
R8439:Duox2	UTSW	2	122,128,636 (GRCm39)	missense	probably benign
R8712:Duox2	UTSW	2	122,119,826 (GRCm39)	nonsense	probably null
R8887:Duox2	UTSW	2	122,120,044 (GRCm39)	missense	probably null	0.89
R8909:Duox2	UTSW	2	122,126,862 (GRCm39)	missense	probably benign
R9022:Duox2	UTSW	2	122,110,919 (GRCm39)	makesense	probably null
R9350:Duox2	UTSW	2	122,115,729 (GRCm39)	nonsense	probably null
R9727:Duox2	UTSW	2	122,116,998 (GRCm39)	nonsense	probably null
Z1176:Duox2	UTSW	2	122,126,988 (GRCm39)	missense	probably damaging	1.00
Z1177:Duox2	UTSW	2	122,123,933 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16