Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03091:Duox2'

418373

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 #

IGL03091

Quality Score

Status

Chromosome

Chromosomal Location

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122119955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 852 (M852L)

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

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

AlphaFold

A0A494BAW1

Predicted Effect

probably benign
Transcript: ENSMUST00000053734
AA Change: M852L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: M852L

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	A	T	4: 126,352,982 (GRCm39)	Y314N	probably damaging	Het
Aknad1	A	G	3: 108,659,219 (GRCm39)	T78A	possibly damaging	Het
Arhgap33	G	A	7: 30,227,718 (GRCm39)	P494S	probably damaging	Het
Babam2	T	A	5: 31,943,022 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,691,386 (GRCm39)	V174A	probably damaging	Het
Chd1l	G	A	3: 97,470,863 (GRCm39)	R811C	probably damaging	Het
Crot	A	T	5: 9,016,897 (GRCm39)	H598Q	probably benign	Het
Dtx2	C	T	5: 136,041,228 (GRCm39)	S211L	probably damaging	Het
Fmc1	G	T	6: 38,516,170 (GRCm39)	S72I	probably damaging	Het
Fut1	T	C	7: 45,268,951 (GRCm39)	C302R	probably damaging	Het
Gm6401	T	C	14: 41,786,615 (GRCm39)	T184A	possibly damaging	Het
Gsdma2	C	T	11: 98,542,828 (GRCm39)	T29I	probably damaging	Het
Lgi2	C	A	5: 52,721,307 (GRCm39)		probably null	Het
Lipe	A	G	7: 25,080,180 (GRCm39)	L926P	probably damaging	Het
Lrp1	T	A	10: 127,394,993 (GRCm39)	I2511F	probably benign	Het
Med10	T	C	13: 69,963,816 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,992,725 (GRCm39)	S294P	probably damaging	Het
Neb	T	A	2: 52,161,324 (GRCm39)	H2156L	probably benign	Het
Neo1	A	T	9: 58,885,951 (GRCm39)	N335K	probably damaging	Het
Nox3	G	T	17: 3,716,119 (GRCm39)	Q429K	probably benign	Het
Odad4	T	A	11: 100,441,076 (GRCm39)	Y102*	probably null	Het
Pkd1l1	T	C	11: 8,805,564 (GRCm39)	R1671G	probably damaging	Het
Plec	T	C	15: 76,073,503 (GRCm39)	T504A	possibly damaging	Het
Pou5f1	G	T	17: 35,820,939 (GRCm39)	R127L	probably benign	Het
Prkdc	T	A	16: 15,523,174 (GRCm39)		probably benign	Het
Rassf8	T	A	6: 145,761,536 (GRCm39)	N287K	probably benign	Het
Rdh16	T	C	10: 127,649,502 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,782,911 (GRCm39)	A1901V	possibly damaging	Het
Scnn1g	A	G	7: 121,345,906 (GRCm39)	Y343C	probably damaging	Het
Sema5a	A	G	15: 32,538,880 (GRCm39)		probably benign	Het
Slc9b2	G	A	3: 135,034,791 (GRCm39)	V310M	probably damaging	Het
Stox2	T	A	8: 47,646,222 (GRCm39)	I477F	possibly damaging	Het
Terb1	A	T	8: 105,195,786 (GRCm39)	H548Q	probably benign	Het
Tsks	G	A	7: 44,607,319 (GRCm39)	M547I	possibly damaging	Het
Tuba8	G	A	6: 121,197,403 (GRCm39)	E22K	probably damaging	Het
Wee2	T	C	6: 40,438,968 (GRCm39)	F364L	probably benign	Het
Zfp644	A	G	5: 106,784,724 (GRCm39)	Y608H	probably damaging	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
IGL02227:Duox2	APN	2	122,115,634 (GRCm39)	splice site	probably benign
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
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

2016-08-02