Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01868:Duox1'

178602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Duox1

Ensembl Gene

ENSMUSG00000033268

Gene Name

dual oxidase 1

Synonyms

THOX1, LNOX1, 9930101G15Rik, NOXEF1

Accession Numbers

Genbank: NM_001099297; MGI: 2139422

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01868

Quality Score

Status

Chromosome

Chromosomal Location

122315672-122347972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122338407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1172 (H1172R)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099461]

AlphaFold

A2AQ92

Predicted Effect

probably benign
Transcript: ENSMUST00000099461
AA Change: H1172R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: H1172R

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,414,148	T569M	possibly damaging	Het
Aldh1l1	A	T	6: 90,583,230	K620*	probably null	Het
Amdhd2	G	T	17: 24,157,530	T346K	probably damaging	Het
Arhgap44	T	C	11: 65,012,078	D521G	probably damaging	Het
Ccdc146	C	A	5: 21,333,054	A91S	probably damaging	Het
Ccdc187	C	A	2: 26,280,948	R506L	probably benign	Het
Cd37	T	C	7: 45,236,179	Q128R	probably benign	Het
Cdh22	T	A	2: 165,157,358	M185L	probably damaging	Het
Cib2	A	T	9: 54,548,475	N68K	probably damaging	Het
Ddx46	C	T	13: 55,639,870	R96*	probably null	Het
Dnajc13	A	T	9: 104,162,745	H2050Q	possibly damaging	Het
Eftud2	C	T	11: 102,869,127	V132I	probably benign	Het
Fcrl5	G	A	3: 87,443,707	D87N	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14548	G	A	7: 3,897,175	Q143*	probably null	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Kat6a	T	C	8: 22,926,455	F660L	probably damaging	Het
Lipo2	T	C	19: 33,730,838	M259V	probably benign	Het
Lrrcc1	T	A	3: 14,554,357	L90*	probably null	Het
Lsm1	G	A	8: 25,793,793		probably null	Het
Luzp1	T	C	4: 136,542,737	I757T	probably damaging	Het
Micall1	A	G	15: 79,115,060	I76V	probably benign	Het
Mmp21	A	T	7: 133,675,914	D394E	probably damaging	Het
Mtfr1l	T	C	4: 134,530,707	D68G	probably null	Het
Necab2	A	G	8: 119,462,576	S162G	probably benign	Het
Olfr1186	T	C	2: 88,525,715	V44A	possibly damaging	Het
Olfr429	C	T	1: 174,089,370	T110I	possibly damaging	Het
Olfr64	G	A	7: 103,893,376	R120*	probably null	Het
Olfr96	A	T	17: 37,225,152	Q9L	probably benign	Het
Pde7b	A	T	10: 20,407,165	C376*	probably null	Het
Plcb2	A	G	2: 118,709,590	L1074P	probably damaging	Het
Plcb2	G	T	2: 118,711,387	T914N	probably benign	Het
Prph	C	A	15: 99,056,343	D207E	probably damaging	Het
Prrxl1	C	A	14: 32,608,377	F150L	probably damaging	Het
Rbp4	C	A	19: 38,124,520	R37L	probably damaging	Het
Ryr3	T	C	2: 112,803,158		probably benign	Het
Sardh	T	G	2: 27,227,147	Q496P	probably benign	Het
Serpina1f	T	A	12: 103,693,445	N193Y	probably benign	Het
Slc10a7	G	A	8: 78,697,336		probably null	Het
Spg7	T	C	8: 123,090,236		probably null	Het
Sphkap	T	C	1: 83,280,399		probably null	Het
Tas2r121	T	A	6: 132,700,272	I246L	probably benign	Het
Tbc1d9b	T	C	11: 50,161,633	F889S	probably damaging	Het
Tcp10a	T	C	17: 7,329,864	M140T	possibly damaging	Het
Tctn2	G	A	5: 124,616,528		noncoding transcript	Het
Tfap2b	G	T	1: 19,214,282	R138L	probably damaging	Het
Tnrc18	T	C	5: 142,771,812	T985A	unknown	Het
Treml1	G	A	17: 48,366,007	V211I	probably benign	Het
Ubr4	C	T	4: 139,412,678	Q1191*	probably null	Het
Vim	G	A	2: 13,578,438	R217H	possibly damaging	Het
Vmn2r77	A	G	7: 86,803,016	D468G	probably benign	Het
Vmn2r98	G	T	17: 19,066,286	V349F	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vwa7	A	T	17: 35,021,259	E401V	probably null	Het
Zfp119b	C	A	17: 55,939,866	V75L	possibly damaging	Het
Zfp287	C	T	11: 62,715,257	E275K	probably benign	Het

Other mutations in Duox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Duox1	APN	2	122333141	missense	possibly damaging	0.55
IGL00956:Duox1	APN	2	122323306	missense	probably benign	0.42
IGL01413:Duox1	APN	2	122320710	missense	probably benign	0.03
IGL01444:Duox1	APN	2	122340090	missense	probably damaging	0.98
IGL01633:Duox1	APN	2	122333798	missense	probably benign	0.00
IGL01814:Duox1	APN	2	122346272	missense	probably damaging	0.99
IGL02096:Duox1	APN	2	122344174	missense	probably damaging	0.99
IGL02126:Duox1	APN	2	122346336	missense	probably benign	0.21
IGL02342:Duox1	APN	2	122347312	missense	probably damaging	1.00
IGL02687:Duox1	APN	2	122336415	missense	probably damaging	1.00
IGL02708:Duox1	APN	2	122326017	missense	possibly damaging	0.81
IGL02935:Duox1	APN	2	122324519	missense	possibly damaging	0.56
antiquity	UTSW	2	122340201	missense	probably damaging	1.00
Dejavous	UTSW	2	122320864	missense	probably damaging	1.00
R1706_Duox1_051	UTSW	2	122319472	missense	probably benign	0.01
R5032_duox1_732	UTSW	2	122337317	missense	probably benign
Vaguely	UTSW	2	122326135	nonsense	probably null
D4043:Duox1	UTSW	2	122344795	missense	probably benign
R0047:Duox1	UTSW	2	122346641	unclassified	probably benign
R0047:Duox1	UTSW	2	122346641	unclassified	probably benign
R0241:Duox1	UTSW	2	122333397	splice site	probably benign
R0479:Duox1	UTSW	2	122346380	missense	probably damaging	1.00
R0834:Duox1	UTSW	2	122346501	missense	probably damaging	1.00
R1105:Duox1	UTSW	2	122337702	missense	probably damaging	0.97
R1205:Duox1	UTSW	2	122327925	nonsense	probably null
R1281:Duox1	UTSW	2	122327088	missense	probably damaging	1.00
R1302:Duox1	UTSW	2	122347279	missense	probably benign	0.24
R1532:Duox1	UTSW	2	122344723	missense	probably damaging	1.00
R1706:Duox1	UTSW	2	122319472	missense	probably benign	0.01
R1719:Duox1	UTSW	2	122338644	missense	possibly damaging	0.93
R1753:Duox1	UTSW	2	122333429	missense	probably damaging	1.00
R1827:Duox1	UTSW	2	122347380	nonsense	probably null
R1828:Duox1	UTSW	2	122347380	nonsense	probably null
R1940:Duox1	UTSW	2	122325984	missense	probably benign	0.06
R1944:Duox1	UTSW	2	122346520	missense	probably damaging	0.99
R2069:Duox1	UTSW	2	122333062	missense	probably benign
R2113:Duox1	UTSW	2	122337254	missense	probably benign
R2202:Duox1	UTSW	2	122344713	missense	probably benign	0.19
R2314:Duox1	UTSW	2	122333730	nonsense	probably null
R2507:Duox1	UTSW	2	122333138	missense	probably benign	0.34
R2508:Duox1	UTSW	2	122333138	missense	probably benign	0.34
R3177:Duox1	UTSW	2	122340116	missense	probably damaging	1.00
R3277:Duox1	UTSW	2	122340116	missense	probably damaging	1.00
R4124:Duox1	UTSW	2	122337421	missense	probably damaging	1.00
R4271:Duox1	UTSW	2	122324375	missense	probably damaging	0.96
R4411:Duox1	UTSW	2	122337634	missense	probably benign	0.30
R4419:Duox1	UTSW	2	122327126	missense	probably benign
R4420:Duox1	UTSW	2	122327126	missense	probably benign
R4578:Duox1	UTSW	2	122333777	missense	probably benign	0.15
R4628:Duox1	UTSW	2	122346252	missense	probably damaging	1.00
R4665:Duox1	UTSW	2	122319475	missense	probably benign	0.00
R4666:Duox1	UTSW	2	122319475	missense	probably benign	0.00
R4730:Duox1	UTSW	2	122333831	missense	probably damaging	1.00
R4767:Duox1	UTSW	2	122333441	missense	possibly damaging	0.79
R4857:Duox1	UTSW	2	122315731	missense	probably benign	0.05
R4904:Duox1	UTSW	2	122320864	missense	probably damaging	1.00
R5032:Duox1	UTSW	2	122337317	missense	probably benign
R5201:Duox1	UTSW	2	122327922	missense	probably benign
R5474:Duox1	UTSW	2	122346625	missense	probably benign	0.02
R5835:Duox1	UTSW	2	122327860	missense	probably benign	0.00
R5939:Duox1	UTSW	2	122346351	missense	probably damaging	1.00
R5941:Duox1	UTSW	2	122344156	missense	probably damaging	0.97
R5943:Duox1	UTSW	2	122333435	missense	probably benign	0.00
R5970:Duox1	UTSW	2	122340201	missense	probably damaging	1.00
R6023:Duox1	UTSW	2	122337684	missense	probably benign	0.19
R6050:Duox1	UTSW	2	122319475	missense	probably benign	0.00
R6064:Duox1	UTSW	2	122320762	missense	probably benign	0.00
R6093:Duox1	UTSW	2	122347274	missense	probably benign	0.01
R6188:Duox1	UTSW	2	122319794	missense	probably benign	0.00
R6246:Duox1	UTSW	2	122327174	missense	probably damaging	1.00
R6259:Duox1	UTSW	2	122344783	missense	probably benign	0.00
R6290:Duox1	UTSW	2	122333807	missense	possibly damaging	0.92
R6300:Duox1	UTSW	2	122337700	missense	probably damaging	0.99
R6341:Duox1	UTSW	2	122337721	missense	probably damaging	0.98
R6498:Duox1	UTSW	2	122319607	missense	probably damaging	1.00
R6883:Duox1	UTSW	2	122324584	splice site	probably null
R7002:Duox1	UTSW	2	122319877	nonsense	probably null
R7410:Duox1	UTSW	2	122346393	missense	probably damaging	1.00
R7421:Duox1	UTSW	2	122323230	missense	probably damaging	1.00
R7608:Duox1	UTSW	2	122326135	nonsense	probably null
R7702:Duox1	UTSW	2	122329639	missense	possibly damaging	0.86
R7766:Duox1	UTSW	2	122337301	missense	probably benign
R7833:Duox1	UTSW	2	122324388	missense	probably damaging	1.00
R7980:Duox1	UTSW	2	122347320	missense	possibly damaging	0.71
R8275:Duox1	UTSW	2	122344768	missense	probably benign	0.02
R8717:Duox1	UTSW	2	122337671	missense	possibly damaging	0.88
R8992:Duox1	UTSW	2	122344705	missense	probably damaging	1.00
R9196:Duox1	UTSW	2	122320208	missense	probably benign	0.08
R9344:Duox1	UTSW	2	122337682	missense	probably benign	0.14
R9397:Duox1	UTSW	2	122320302	missense	possibly damaging	0.48
R9491:Duox1	UTSW	2	122326426	missense	probably benign	0.01
R9510:Duox1	UTSW	2	122329542	missense	possibly damaging	0.92
R9521:Duox1	UTSW	2	122328735	missense	possibly damaging	0.81
R9562:Duox1	UTSW	2	122320722	missense	probably damaging	1.00
R9565:Duox1	UTSW	2	122320722	missense	probably damaging	1.00
R9569:Duox1	UTSW	2	122318490	missense	probably benign
Z1176:Duox1	UTSW	2	122333038	missense	probably damaging	0.99

Posted On

2014-05-07