Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02096:Duox1'

281105

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 #

IGL02096

Quality Score

Status

Chromosome

Chromosomal Location

122315672-122347972 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122344174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 1271 (K1271M)

Ref Sequence

ENSEMBL: ENSMUSP00000097060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000099461] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000125826] [ENSMUST00000139819]

AlphaFold

A2AQ92

Predicted Effect

probably benign
Transcript: ENSMUST00000048635

SMART Domains

Protein: ENSMUSP00000045135
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	48	67	N/A	INTRINSIC
SH2	136	220	9.16e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099461
AA Change: K1271M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: K1271M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110531

SMART Domains

Protein: ENSMUSP00000106160
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	48	67	N/A	INTRINSIC
SH2	136	220	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110532

SMART Domains

Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	45	61	N/A	INTRINSIC
low complexity region	77	87	N/A	INTRINSIC
low complexity region	146	165	N/A	INTRINSIC
Blast:SH2	225	278	2e-22	BLAST
SCOP:d1ayaa_	237	291	1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125826

SMART Domains

Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	14	56	N/A	INTRINSIC
low complexity region	76	105	N/A	INTRINSIC
low complexity region	129	148	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	187	197	N/A	INTRINSIC
low complexity region	256	275	N/A	INTRINSIC
SH2	344	428	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139819

SMART Domains

Protein: ENSMUSP00000119980
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	149	163	N/A	INTRINSIC
SH2	218	302	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151130

SMART Domains

Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	6	48	N/A	INTRINSIC
low complexity region	68	97	N/A	INTRINSIC
low complexity region	121	140	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
low complexity region	248	267	N/A	INTRINSIC

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	C	A	13: 63,061,089	A340E	probably benign	Het
Abca9	A	G	11: 110,102,533	L1584P	probably damaging	Het
Abca9	G	T	11: 110,165,980	H5N	probably benign	Het
Acox1	A	T	11: 116,178,198	I371N	probably damaging	Het
Bmp5	A	G	9: 75,898,551	N445S	probably damaging	Het
Cacna1b	G	T	2: 24,678,915	A999E	probably benign	Het
Cdc27	A	T	11: 104,528,568		probably benign	Het
D430042O09Rik	G	A	7: 125,814,821	C379Y	probably benign	Het
Dmxl2	T	C	9: 54,401,065	E2134G	possibly damaging	Het
Dnttip2	A	G	3: 122,284,413	N698S	possibly damaging	Het
Dync1h1	T	C	12: 110,632,820	Y1870H	possibly damaging	Het
Edem3	A	G	1: 151,804,719	T532A	probably benign	Het
Epx	A	T	11: 87,869,468	L440Q	probably damaging	Het
F11	A	G	8: 45,246,754	F432L	probably benign	Het
Fam185a	C	A	5: 21,425,343	P59Q	probably damaging	Het
Fsip2	A	G	2: 82,991,860	D5979G	possibly damaging	Het
Furin	A	G	7: 80,393,459	S335P	probably damaging	Het
Gm10130	T	C	2: 150,323,714	Y5H	probably damaging	Het
Gtf3c1	T	A	7: 125,659,112	Q1262L	probably damaging	Het
Hmmr	A	T	11: 40,707,429	V652E	probably benign	Het
Iapp	A	T	6: 142,303,473	N84I	probably benign	Het
Mmp17	C	T	5: 129,598,688	Q304*	probably null	Het
Mpl	T	C	4: 118,457,136	T55A	possibly damaging	Het
Mst1r	G	A	9: 107,917,279	R1219H	probably damaging	Het
Muc6	T	A	7: 141,639,850		probably benign	Het
Nalcn	C	T	14: 123,594,503	V120I	probably benign	Het
Nt5dc1	A	T	10: 34,399,810	C134*	probably null	Het
Obscn	A	C	11: 59,080,704	N2228K	probably damaging	Het
Olfr135	T	A	17: 38,209,183	*313R	probably null	Het
Osbpl10	T	C	9: 115,216,994	M566T	possibly damaging	Het
Pabpc1l	G	A	2: 164,044,347	V466I	probably benign	Het
Pdcd11	T	G	19: 47,106,421	V548G	probably benign	Het
Prss27	G	T	17: 24,044,977	K212N	possibly damaging	Het
Ranbp2	T	A	10: 58,461,967	S399T	probably damaging	Het
Rgs19	A	G	2: 181,689,283	S159P	probably damaging	Het
Sh2b1	A	G	7: 126,469,293	S449P	probably damaging	Het
Slc6a18	T	A	13: 73,672,751	Y238F	probably benign	Het
Stx11	T	C	10: 12,941,480	I167V	probably benign	Het
Sucnr1	A	G	3: 60,086,950	M300V	possibly damaging	Het
Synj2	A	G	17: 5,990,353	T235A	probably damaging	Het
Ubxn2b	T	A	4: 6,214,749	I261N	probably damaging	Het
Vmn2r43	G	A	7: 8,257,513		probably benign	Het
Vmn2r45	A	G	7: 8,481,444	M454T	probably damaging	Het
Vsig2	T	A	9: 37,539,955	S51T	probably damaging	Het
Wdr41	T	C	13: 95,017,456		probably benign	Het
Wdr6	A	C	9: 108,576,553	L44V	probably damaging	Het
Zfp592	T	C	7: 81,025,048	Y587H	probably damaging	Het
Zfp735	A	T	11: 73,711,428	K399N	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
IGL01868:Duox1	APN	2	122338407	missense	probably benign
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

2015-04-16