Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02806:Duox2'

360418

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 #

IGL02806

Quality Score

Status

Chromosome

Chromosomal Location

122109728-122128930 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122115147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1110 (H1110R)

Ref Sequence

ENSEMBL: ENSMUSP00000050314 (fasta)

Gene Model

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

AlphaFold

A0A494BAW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000053734
AA Change: H1110R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452
AA Change: H1110R

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,088,737 (GRCm39)	D195G	probably damaging	Het
Acsm1	G	A	7: 119,235,861 (GRCm39)	D194N	probably benign	Het
Akr1b1	T	C	6: 34,281,254 (GRCm39)	Y310C	probably damaging	Het
Aldh6a1	T	C	12: 84,486,414 (GRCm39)	D168G	probably damaging	Het
Ankrd29	A	C	18: 12,408,795 (GRCm39)	S166A	probably benign	Het
Ap1m2	T	G	9: 21,216,979 (GRCm39)	D119A	probably damaging	Het
Atp1a3	T	C	7: 24,681,297 (GRCm39)	K776R	probably damaging	Het
Bltp1	A	G	3: 37,000,643 (GRCm39)	D1274G	possibly damaging	Het
Cacna2d3	A	C	14: 29,073,907 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,921,316 (GRCm39)	M401T	probably benign	Het
Cchcr1	A	G	17: 35,836,153 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx60	T	A	8: 62,409,156 (GRCm39)	D397E	probably benign	Het
Ephb3	C	A	16: 21,041,031 (GRCm39)	D696E	probably benign	Het
Ermap	T	C	4: 119,046,113 (GRCm39)	K6E	possibly damaging	Het
Gm3095	A	G	14: 15,170,388 (GRCm39)	D79G	possibly damaging	Het
Hnrnpab	A	G	11: 51,496,305 (GRCm39)	S126P	probably benign	Het
Hyou1	C	A	9: 44,300,180 (GRCm39)	S823*	probably null	Het
Klhl31	T	A	9: 77,563,056 (GRCm39)	V607E	probably damaging	Het
Klrc3	A	T	6: 129,616,065 (GRCm39)	C209S	possibly damaging	Het
Lhx4	G	A	1: 155,577,975 (GRCm39)	P389L	probably benign	Het
Lmntd2	T	C	7: 140,791,952 (GRCm39)	T264A	probably benign	Het
Mkx	T	C	18: 6,937,025 (GRCm39)	D302G	probably damaging	Het
Ms4a4d	T	C	19: 11,533,610 (GRCm39)	S164P	possibly damaging	Het
Myo1e	A	G	9: 70,269,552 (GRCm39)	E651G	probably benign	Het
Myo5b	G	A	18: 74,750,151 (GRCm39)		probably null	Het
Ncoa3	A	G	2: 165,894,352 (GRCm39)	I298V	probably benign	Het
Nek1	G	A	8: 61,497,120 (GRCm39)	M389I	probably benign	Het
Nid1	T	A	13: 13,642,897 (GRCm39)	D278E	probably benign	Het
Nkx2-9	C	T	12: 56,658,705 (GRCm39)	V170M	probably damaging	Het
Or51ag1	T	A	7: 103,155,210 (GRCm39)	K314N	probably benign	Het
Oxsr1	T	C	9: 119,070,260 (GRCm39)	D511G	possibly damaging	Het
Pramel14	T	A	4: 143,719,501 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,080,799 (GRCm39)	L329S	possibly damaging	Het
Setd7	A	T	3: 51,457,688 (GRCm39)	N46K	probably damaging	Het
Snx10	T	A	6: 51,565,329 (GRCm39)	F149I	probably damaging	Het
Sult2a3	T	A	7: 13,856,857 (GRCm39)	E21V	probably damaging	Het
Tas2r135	T	C	6: 42,383,382 (GRCm39)	F307S	probably benign	Het
Tmem131l	T	C	3: 83,836,123 (GRCm39)		probably benign	Het
Tnfsf18	T	G	1: 161,331,348 (GRCm39)	M166R	possibly damaging	Het
Toe1	C	T	4: 116,663,527 (GRCm39)	V88M	possibly damaging	Het
Ttk	T	A	9: 83,744,540 (GRCm39)	C577*	probably null	Het
Ush2a	T	A	1: 188,542,554 (GRCm39)	Y3373*	probably null	Het
Vwa8	A	G	14: 79,394,528 (GRCm39)	D1543G	probably benign	Het
Zfhx4	A	T	3: 5,455,468 (GRCm39)	H1154L	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
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
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

2015-12-18