Incidental Mutation 'R4857:Duox1'
ID 374027
Institutional Source Beutler Lab
Gene Symbol Duox1
Ensembl Gene ENSMUSG00000033268
Gene Name dual oxidase 1
Synonyms NOXEF1, LNOX1, 9930101G15Rik, THOX1
MMRRC Submission 042468-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4857 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122146153-122178453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122146212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 10 (I10N)
Ref Sequence ENSEMBL: ENSMUSP00000097060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099461] [ENSMUST00000110537] [ENSMUST00000147788] [ENSMUST00000148417] [ENSMUST00000154412]
AlphaFold A2AQ92
Predicted Effect probably benign
Transcript: ENSMUST00000099461
AA Change: I10N

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: I10N

DomainStartEndE-ValueType
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: ENSMUST00000110537
SMART Domains Protein: ENSMUSP00000106166
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 290 3.9e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147788
SMART Domains Protein: ENSMUSP00000116280
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 134 5.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148417
SMART Domains Protein: ENSMUSP00000116963
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 210 1.2e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154412
SMART Domains Protein: ENSMUSP00000116911
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 100 6.3e-37 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (115/119)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548G14Rik C T 15: 46,488,927 (GRCm39) noncoding transcript Het
Aasdh A T 5: 77,035,131 (GRCm39) F428L probably benign Het
Abca13 A G 11: 9,244,143 (GRCm39) N2002S probably benign Het
Acot7 T G 4: 152,322,211 (GRCm39) F248V possibly damaging Het
Acsf2 A G 11: 94,460,164 (GRCm39) I396T probably benign Het
Agbl1 A G 7: 76,069,583 (GRCm39) N372D probably benign Het
Ahctf1 A T 1: 179,626,922 (GRCm39) probably benign Het
Akap11 T C 14: 78,736,300 (GRCm39) D1830G Het
Bcl7b A G 5: 135,202,033 (GRCm39) *59W probably null Het
Bdh1 A G 16: 31,266,366 (GRCm39) probably null Het
Bin3 A G 14: 70,366,344 (GRCm39) N69S probably benign Het
Bltp3b A T 10: 89,615,825 (GRCm39) N156I probably damaging Het
Bsdc1 T C 4: 129,365,685 (GRCm39) probably benign Het
Cacna1i T C 15: 80,253,863 (GRCm39) V700A probably damaging Het
Calcr T C 6: 3,708,511 (GRCm39) N225S probably benign Het
Cby2 C T 14: 75,830,478 (GRCm39) E8K probably damaging Het
Cdh23 A G 10: 60,227,563 (GRCm39) S1173P probably damaging Het
Cftr C T 6: 18,320,974 (GRCm39) T1428M possibly damaging Het
Chd1l T C 3: 97,479,975 (GRCm39) K591E probably benign Het
Chrd C T 16: 20,557,508 (GRCm39) P709L possibly damaging Het
Ckap4 T C 10: 84,369,352 (GRCm39) R127G possibly damaging Het
Cnbd2 T C 2: 156,209,485 (GRCm39) F476S probably benign Het
Dclk3 T C 9: 111,297,716 (GRCm39) V420A probably benign Het
Dnah5 A G 15: 28,345,953 (GRCm39) D2431G probably benign Het
Ece2 T A 16: 20,436,556 (GRCm39) V126D probably damaging Het
Elfn1 T C 5: 139,958,840 (GRCm39) Y615H probably damaging Het
Epha1 T C 6: 42,338,416 (GRCm39) D720G probably benign Het
Fras1 A G 5: 96,926,018 (GRCm39) I3741V probably benign Het
Gm53 A T 11: 96,142,562 (GRCm39) noncoding transcript Het
Grb10 G T 11: 11,901,469 (GRCm39) probably benign Het
Grid2ip A G 5: 143,368,384 (GRCm39) H568R probably damaging Het
Gsap A T 5: 21,492,797 (GRCm39) probably null Het
Gse1 T C 8: 121,299,496 (GRCm39) probably benign Het
Gstm1 T C 3: 107,923,724 (GRCm39) R94G possibly damaging Het
Gtf2ird1 A G 5: 134,391,398 (GRCm39) F866L probably damaging Het
Haao T A 17: 84,146,009 (GRCm39) probably null Het
Hcn4 A T 9: 58,766,853 (GRCm39) I805F unknown Het
Hemk1 A T 9: 107,206,647 (GRCm39) probably benign Het
Il12rb1 A T 8: 71,263,232 (GRCm39) Y33F possibly damaging Het
Il19 T A 1: 130,863,683 (GRCm39) I103F probably damaging Het
Itpr1 A G 6: 108,387,828 (GRCm39) N1522S probably benign Het
Klhdc8a A G 1: 132,230,843 (GRCm39) Y236C probably damaging Het
Klhl3 C T 13: 58,166,620 (GRCm39) G404S probably damaging Het
Large2 T C 2: 92,196,979 (GRCm39) probably benign Het
Lgi1 C A 19: 38,294,698 (GRCm39) A490E probably damaging Het
Lmbr1 A G 5: 29,528,807 (GRCm39) L112P probably damaging Het
Lmo7 T A 14: 102,124,784 (GRCm39) probably null Het
Lpin1 A C 12: 16,613,631 (GRCm39) I479S possibly damaging Het
Lrrc40 T A 3: 157,771,866 (GRCm39) probably benign Het
Lrrc9 A G 12: 72,546,466 (GRCm39) N1218S possibly damaging Het
Map3k9 A G 12: 81,771,401 (GRCm39) V729A probably benign Het
Marf1 A T 16: 13,946,475 (GRCm39) Y1215* probably null Het
Moap1 T A 12: 102,708,824 (GRCm39) I242L probably benign Het
Mpo A G 11: 87,687,107 (GRCm39) K218E probably benign Het
Mpz C T 1: 170,986,379 (GRCm39) R98C probably damaging Het
Neb T G 2: 52,091,992 (GRCm39) K5024T probably damaging Het
Nlrp4b C T 7: 10,449,225 (GRCm39) T109I probably benign Het
Noc3l T A 19: 38,781,244 (GRCm39) probably null Het
Nosip G A 7: 44,726,102 (GRCm39) V220I probably benign Het
Nyap1 A C 5: 137,733,840 (GRCm39) S398A probably damaging Het
Or12d17 A G 17: 37,777,714 (GRCm39) M206V possibly damaging Het
Or4a68 T G 2: 89,269,967 (GRCm39) I219L probably damaging Het
Or4f54 A G 2: 111,123,488 (GRCm39) N292D possibly damaging Het
Osbpl7 T C 11: 96,947,495 (GRCm39) probably benign Het
Pard3 A T 8: 128,050,535 (GRCm39) Y199F probably damaging Het
Pcdha11 G A 18: 37,144,505 (GRCm39) V199I probably benign Het
Pcdhga8 A T 18: 37,859,967 (GRCm39) N341I probably damaging Het
Pcsk4 A G 10: 80,160,873 (GRCm39) S318P probably damaging Het
Phldb1 C A 9: 44,607,389 (GRCm39) R1272L probably damaging Het
Phlpp2 A G 8: 110,603,642 (GRCm39) T103A probably damaging Het
Pibf1 T A 14: 99,423,937 (GRCm39) Y503* probably null Het
Pkn1 A T 8: 84,410,856 (GRCm39) probably null Het
Pramel22 A T 4: 143,383,158 (GRCm39) N20K possibly damaging Het
Ptprf A G 4: 118,074,394 (GRCm39) probably benign Het
Rbm19 C A 5: 120,270,898 (GRCm39) probably benign Het
Rcan1 T C 16: 92,262,794 (GRCm39) D5G possibly damaging Het
Recql5 A T 11: 115,819,038 (GRCm39) L176Q probably damaging Het
Rev3l T A 10: 39,714,455 (GRCm39) L2393Q probably damaging Het
Rp1 C A 1: 4,422,539 (GRCm39) K180N probably damaging Het
Rp1 T A 1: 4,422,540 (GRCm39) K180M probably damaging Het
Sdk1 T C 5: 142,147,531 (GRCm39) V1461A probably benign Het
Sdk2 A T 11: 113,712,208 (GRCm39) L1653* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint10 A T 4: 112,603,830 (GRCm39) V119D possibly damaging Het
Sncaip T C 18: 53,002,297 (GRCm39) S273P probably benign Het
Sp1 T G 15: 102,339,409 (GRCm39) I449S probably damaging Het
Spata31h1 T C 10: 82,119,682 (GRCm39) T4443A possibly damaging Het
Spats2 T C 15: 99,072,301 (GRCm39) L78P probably damaging Het
Stambp T A 6: 83,533,348 (GRCm39) N305I probably benign Het
Stim2 A T 5: 54,275,888 (GRCm39) S688C probably damaging Het
Sytl3 A G 17: 7,003,980 (GRCm39) N355S probably damaging Het
Taf4b C T 18: 14,937,635 (GRCm39) A236V probably null Het
Tnfaip6 A G 2: 51,941,086 (GRCm39) probably null Het
Trpc2 T A 7: 101,733,176 (GRCm39) S416T probably benign Het
Ttn T C 2: 76,569,210 (GRCm39) T27228A probably damaging Het
Ush2a T A 1: 188,269,917 (GRCm39) D1721E probably benign Het
Usp47 T A 7: 111,681,759 (GRCm39) H523Q probably damaging Het
Vmn1r8 A T 6: 57,013,338 (GRCm39) I130F probably benign Het
Vps13b A G 15: 35,456,800 (GRCm39) S749G probably benign Het
Xrcc5 C A 1: 72,365,424 (GRCm39) T283K possibly damaging Het
Ydjc A G 16: 16,966,002 (GRCm39) probably benign Het
Other mutations in Duox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Duox1 APN 2 122,163,622 (GRCm39) missense possibly damaging 0.55
IGL00956:Duox1 APN 2 122,153,787 (GRCm39) missense probably benign 0.42
IGL01413:Duox1 APN 2 122,151,191 (GRCm39) missense probably benign 0.03
IGL01444:Duox1 APN 2 122,170,571 (GRCm39) missense probably damaging 0.98
IGL01633:Duox1 APN 2 122,164,279 (GRCm39) missense probably benign 0.00
IGL01814:Duox1 APN 2 122,176,753 (GRCm39) missense probably damaging 0.99
IGL01868:Duox1 APN 2 122,168,888 (GRCm39) missense probably benign
IGL02096:Duox1 APN 2 122,174,655 (GRCm39) missense probably damaging 0.99
IGL02126:Duox1 APN 2 122,176,817 (GRCm39) missense probably benign 0.21
IGL02342:Duox1 APN 2 122,177,793 (GRCm39) missense probably damaging 1.00
IGL02687:Duox1 APN 2 122,166,896 (GRCm39) missense probably damaging 1.00
IGL02708:Duox1 APN 2 122,156,498 (GRCm39) missense possibly damaging 0.81
IGL02935:Duox1 APN 2 122,155,000 (GRCm39) missense possibly damaging 0.56
antiquity UTSW 2 122,170,682 (GRCm39) missense probably damaging 1.00
Dejavous UTSW 2 122,151,345 (GRCm39) missense probably damaging 1.00
R1706_Duox1_051 UTSW 2 122,149,953 (GRCm39) missense probably benign 0.01
R5032_duox1_732 UTSW 2 122,167,798 (GRCm39) missense probably benign
Vaguely UTSW 2 122,156,616 (GRCm39) nonsense probably null
D4043:Duox1 UTSW 2 122,175,276 (GRCm39) missense probably benign
R0047:Duox1 UTSW 2 122,177,122 (GRCm39) unclassified probably benign
R0047:Duox1 UTSW 2 122,177,122 (GRCm39) unclassified probably benign
R0241:Duox1 UTSW 2 122,163,878 (GRCm39) splice site probably benign
R0479:Duox1 UTSW 2 122,176,861 (GRCm39) missense probably damaging 1.00
R0834:Duox1 UTSW 2 122,176,982 (GRCm39) missense probably damaging 1.00
R1105:Duox1 UTSW 2 122,168,183 (GRCm39) missense probably damaging 0.97
R1205:Duox1 UTSW 2 122,158,406 (GRCm39) nonsense probably null
R1281:Duox1 UTSW 2 122,157,569 (GRCm39) missense probably damaging 1.00
R1302:Duox1 UTSW 2 122,177,760 (GRCm39) missense probably benign 0.24
R1532:Duox1 UTSW 2 122,175,204 (GRCm39) missense probably damaging 1.00
R1706:Duox1 UTSW 2 122,149,953 (GRCm39) missense probably benign 0.01
R1719:Duox1 UTSW 2 122,169,125 (GRCm39) missense possibly damaging 0.93
R1753:Duox1 UTSW 2 122,163,910 (GRCm39) missense probably damaging 1.00
R1827:Duox1 UTSW 2 122,177,861 (GRCm39) nonsense probably null
R1828:Duox1 UTSW 2 122,177,861 (GRCm39) nonsense probably null
R1940:Duox1 UTSW 2 122,156,465 (GRCm39) missense probably benign 0.06
R1944:Duox1 UTSW 2 122,177,001 (GRCm39) missense probably damaging 0.99
R2069:Duox1 UTSW 2 122,163,543 (GRCm39) missense probably benign
R2113:Duox1 UTSW 2 122,167,735 (GRCm39) missense probably benign
R2202:Duox1 UTSW 2 122,175,194 (GRCm39) missense probably benign 0.19
R2314:Duox1 UTSW 2 122,164,211 (GRCm39) nonsense probably null
R2507:Duox1 UTSW 2 122,163,619 (GRCm39) missense probably benign 0.34
R2508:Duox1 UTSW 2 122,163,619 (GRCm39) missense probably benign 0.34
R3177:Duox1 UTSW 2 122,170,597 (GRCm39) missense probably damaging 1.00
R3277:Duox1 UTSW 2 122,170,597 (GRCm39) missense probably damaging 1.00
R4124:Duox1 UTSW 2 122,167,902 (GRCm39) missense probably damaging 1.00
R4271:Duox1 UTSW 2 122,154,856 (GRCm39) missense probably damaging 0.96
R4411:Duox1 UTSW 2 122,168,115 (GRCm39) missense probably benign 0.30
R4419:Duox1 UTSW 2 122,157,607 (GRCm39) missense probably benign
R4420:Duox1 UTSW 2 122,157,607 (GRCm39) missense probably benign
R4578:Duox1 UTSW 2 122,164,258 (GRCm39) missense probably benign 0.15
R4628:Duox1 UTSW 2 122,176,733 (GRCm39) missense probably damaging 1.00
R4665:Duox1 UTSW 2 122,149,956 (GRCm39) missense probably benign 0.00
R4666:Duox1 UTSW 2 122,149,956 (GRCm39) missense probably benign 0.00
R4730:Duox1 UTSW 2 122,164,312 (GRCm39) missense probably damaging 1.00
R4767:Duox1 UTSW 2 122,163,922 (GRCm39) missense possibly damaging 0.79
R4904:Duox1 UTSW 2 122,151,345 (GRCm39) missense probably damaging 1.00
R5032:Duox1 UTSW 2 122,167,798 (GRCm39) missense probably benign
R5201:Duox1 UTSW 2 122,158,403 (GRCm39) missense probably benign
R5474:Duox1 UTSW 2 122,177,106 (GRCm39) missense probably benign 0.02
R5835:Duox1 UTSW 2 122,158,341 (GRCm39) missense probably benign 0.00
R5939:Duox1 UTSW 2 122,176,832 (GRCm39) missense probably damaging 1.00
R5941:Duox1 UTSW 2 122,174,637 (GRCm39) missense probably damaging 0.97
R5943:Duox1 UTSW 2 122,163,916 (GRCm39) missense probably benign 0.00
R5970:Duox1 UTSW 2 122,170,682 (GRCm39) missense probably damaging 1.00
R6023:Duox1 UTSW 2 122,168,165 (GRCm39) missense probably benign 0.19
R6050:Duox1 UTSW 2 122,149,956 (GRCm39) missense probably benign 0.00
R6064:Duox1 UTSW 2 122,151,243 (GRCm39) missense probably benign 0.00
R6093:Duox1 UTSW 2 122,177,755 (GRCm39) missense probably benign 0.01
R6188:Duox1 UTSW 2 122,150,275 (GRCm39) missense probably benign 0.00
R6246:Duox1 UTSW 2 122,157,655 (GRCm39) missense probably damaging 1.00
R6259:Duox1 UTSW 2 122,175,264 (GRCm39) missense probably benign 0.00
R6290:Duox1 UTSW 2 122,164,288 (GRCm39) missense possibly damaging 0.92
R6300:Duox1 UTSW 2 122,168,181 (GRCm39) missense probably damaging 0.99
R6341:Duox1 UTSW 2 122,168,202 (GRCm39) missense probably damaging 0.98
R6498:Duox1 UTSW 2 122,150,088 (GRCm39) missense probably damaging 1.00
R6883:Duox1 UTSW 2 122,155,065 (GRCm39) splice site probably null
R7002:Duox1 UTSW 2 122,150,358 (GRCm39) nonsense probably null
R7410:Duox1 UTSW 2 122,176,874 (GRCm39) missense probably damaging 1.00
R7421:Duox1 UTSW 2 122,153,711 (GRCm39) missense probably damaging 1.00
R7608:Duox1 UTSW 2 122,156,616 (GRCm39) nonsense probably null
R7702:Duox1 UTSW 2 122,160,120 (GRCm39) missense possibly damaging 0.86
R7766:Duox1 UTSW 2 122,167,782 (GRCm39) missense probably benign
R7833:Duox1 UTSW 2 122,154,869 (GRCm39) missense probably damaging 1.00
R7980:Duox1 UTSW 2 122,177,801 (GRCm39) missense possibly damaging 0.71
R8275:Duox1 UTSW 2 122,175,249 (GRCm39) missense probably benign 0.02
R8717:Duox1 UTSW 2 122,168,152 (GRCm39) missense possibly damaging 0.88
R8992:Duox1 UTSW 2 122,175,186 (GRCm39) missense probably damaging 1.00
R9196:Duox1 UTSW 2 122,150,689 (GRCm39) missense probably benign 0.08
R9344:Duox1 UTSW 2 122,168,163 (GRCm39) missense probably benign 0.14
R9397:Duox1 UTSW 2 122,150,783 (GRCm39) missense possibly damaging 0.48
R9491:Duox1 UTSW 2 122,156,907 (GRCm39) missense probably benign 0.01
R9510:Duox1 UTSW 2 122,160,023 (GRCm39) missense possibly damaging 0.92
R9521:Duox1 UTSW 2 122,159,216 (GRCm39) missense possibly damaging 0.81
R9562:Duox1 UTSW 2 122,151,203 (GRCm39) missense probably damaging 1.00
R9565:Duox1 UTSW 2 122,151,203 (GRCm39) missense probably damaging 1.00
R9569:Duox1 UTSW 2 122,148,971 (GRCm39) missense probably benign
Z1176:Duox1 UTSW 2 122,163,519 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAACTAGAGGCCTTCCGAG -3'
(R):5'- TTCACATCAGGAGAACTTACCTCAC -3'

Sequencing Primer
(F):5'- CTAGAGGCCTTCCGAGAGAGTG -3'
(R):5'- GGAGAACTTACCTCACAAAACAGG -3'
Posted On 2016-03-01