Incidental Mutation 'R1940:Duox1'
ID 213889
Institutional Source Beutler Lab
Gene Symbol Duox1
Ensembl Gene ENSMUSG00000033268
Gene Name dual oxidase 1
Synonyms NOXEF1, LNOX1, 9930101G15Rik, THOX1
MMRRC Submission 039958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1940 (G1)
Quality Score 216
Status Validated
Chromosome 2
Chromosomal Location 122146153-122178453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122156465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 464 (V464A)
Ref Sequence ENSEMBL: ENSMUSP00000097060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099461]
AlphaFold A2AQ92
Predicted Effect probably benign
Transcript: ENSMUST00000099461
AA Change: V464A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: V464A

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
Meta Mutation Damage Score 0.3527 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.8%
  • 20x: 93.7%
Validation Efficiency 98% (108/110)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,032,832 (GRCm39) probably benign Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam24 A T 8: 41,134,400 (GRCm39) R623* probably null Het
Agbl2 T A 2: 90,641,626 (GRCm39) L752Q probably damaging Het
Ankrd26 A T 6: 118,488,654 (GRCm39) F1335Y probably damaging Het
Ankrd34a A G 3: 96,505,992 (GRCm39) S399G probably benign Het
Aoc1l3 A T 6: 48,967,007 (GRCm39) K652* probably null Het
Ap3d1 G A 10: 80,545,607 (GRCm39) P1041S probably benign Het
Arid3b A T 9: 57,703,431 (GRCm39) M466K possibly damaging Het
Arsj T C 3: 126,231,995 (GRCm39) I247T probably damaging Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Azin2 C T 4: 128,844,577 (GRCm39) probably null Het
Bcat2 T C 7: 45,237,792 (GRCm39) Y313H possibly damaging Het
Cables2 A G 2: 179,901,873 (GRCm39) V465A probably damaging Het
Ccdc60 G A 5: 116,264,224 (GRCm39) H517Y probably damaging Het
Cd55b A T 1: 130,345,843 (GRCm39) probably null Het
Cdc40 G A 10: 40,759,067 (GRCm39) probably benign Het
Cdh20 G A 1: 109,976,754 (GRCm39) V140I probably benign Het
Cdhr18 A T 14: 13,828,582 (GRCm38) M726K probably null Het
Cfi T C 3: 129,652,477 (GRCm39) probably benign Het
Chit1 G A 1: 134,073,156 (GRCm39) probably null Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Ciao1 A G 2: 127,088,380 (GRCm39) S148P possibly damaging Het
Clmn G A 12: 104,756,361 (GRCm39) T163I probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Col19a1 A T 1: 24,303,831 (GRCm39) C1117* probably null Het
Cplane1 T A 15: 8,263,336 (GRCm39) S2496R probably damaging Het
Cyp2d10 T A 15: 82,289,495 (GRCm39) I206F probably benign Het
Ddrgk1 G T 2: 130,505,480 (GRCm39) probably benign Het
Ddx18 A T 1: 121,482,953 (GRCm39) V611D probably damaging Het
Dnah8 A T 17: 30,950,181 (GRCm39) H2000L probably damaging Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eif4enif1 A G 11: 3,193,279 (GRCm39) H857R probably damaging Het
Elmo2 A G 2: 165,133,970 (GRCm39) probably benign Het
Fam171b CCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGC 2: 83,643,218 (GRCm39) probably benign Het
Glrx A G 13: 75,988,256 (GRCm39) I57V probably benign Het
Golm1 A T 13: 59,790,051 (GRCm39) probably benign Het
Grm3 G A 5: 9,561,682 (GRCm39) R723W probably damaging Het
Gsta3 G A 1: 21,327,601 (GRCm39) R45Q probably benign Het
Gtf3c3 A C 1: 54,468,117 (GRCm39) probably benign Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Hoxa10 C A 6: 52,211,350 (GRCm39) G189C possibly damaging Het
Hs3st3b1 T C 11: 63,780,569 (GRCm39) D186G probably benign Het
Hscb G T 5: 110,983,926 (GRCm39) H63N probably benign Het
Itpr3 A G 17: 27,330,191 (GRCm39) E1603G probably damaging Het
Ivl T A 3: 92,480,056 (GRCm39) H3L probably benign Het
Klhl26 C A 8: 70,904,911 (GRCm39) R252L probably damaging Het
Krt31 T A 11: 99,939,069 (GRCm39) T251S probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lhx3 T C 2: 26,093,974 (GRCm39) D83G probably benign Het
Lss C A 10: 76,381,296 (GRCm39) N427K possibly damaging Het
Mettl24 G A 10: 40,613,722 (GRCm39) A154T probably benign Het
Mgat4a A T 1: 37,575,118 (GRCm39) probably null Het
Moxd2 C T 6: 40,860,466 (GRCm39) R326Q probably damaging Het
Mpdz G A 4: 81,279,680 (GRCm39) A669V probably benign Het
Msra G A 14: 64,522,505 (GRCm39) probably benign Het
Muc13 A T 16: 33,628,281 (GRCm39) T344S probably benign Het
Myo3b T C 2: 70,088,419 (GRCm39) I866T probably benign Het
Nbea T C 3: 55,860,521 (GRCm39) S1852G possibly damaging Het
Ncf2 A G 1: 152,709,815 (GRCm39) probably benign Het
Nfyc C A 4: 120,630,861 (GRCm39) probably benign Het
Nop2 T C 6: 125,111,597 (GRCm39) V110A probably benign Het
Nrg2 C A 18: 36,329,897 (GRCm39) probably benign Het
Nrl A G 14: 55,759,892 (GRCm39) Y12H probably damaging Het
Nrxn3 T C 12: 89,227,151 (GRCm39) V635A probably damaging Het
Or4d11 A C 19: 12,013,275 (GRCm39) V277G probably benign Het
Or6b2b T A 1: 92,419,457 (GRCm39) T7S probably benign Het
Or8k41 T A 2: 86,313,703 (GRCm39) K128* probably null Het
Or9g8 T A 2: 85,607,515 (GRCm39) S196T probably benign Het
Papolg A T 11: 23,817,279 (GRCm39) N639K probably benign Het
Paqr4 T C 17: 23,956,638 (GRCm39) I242V probably damaging Het
Pramel6 A T 2: 87,339,076 (GRCm39) K92M probably damaging Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprb A T 10: 116,155,515 (GRCm39) probably benign Het
Rab28 A T 5: 41,783,133 (GRCm39) S216T probably benign Het
Rrp1b A T 17: 32,275,819 (GRCm39) R455S possibly damaging Het
Sash1 A T 10: 8,605,696 (GRCm39) M898K probably benign Het
Scn8a C T 15: 100,868,085 (GRCm39) T310I probably benign Het
Secisbp2l C A 2: 125,582,259 (GRCm39) D1066Y probably damaging Het
Sipa1l2 A G 8: 126,206,887 (GRCm39) probably benign Het
Slc12a1 A G 2: 125,036,113 (GRCm39) T662A probably benign Het
Slc12a4 T C 8: 106,672,669 (GRCm39) I749V probably benign Het
Slc22a27 A G 19: 7,887,092 (GRCm39) S266P probably damaging Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slit1 T A 19: 41,619,215 (GRCm39) N762I probably damaging Het
Spata31d1b C A 13: 59,865,835 (GRCm39) D994E possibly damaging Het
Sphk1 A G 11: 116,426,676 (GRCm39) I204V probably benign Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Tgfbi A T 13: 56,762,127 (GRCm39) Q70L possibly damaging Het
Tlr9 T C 9: 106,101,846 (GRCm39) L379P probably damaging Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Tra2b A G 16: 22,073,795 (GRCm39) probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trnau1ap A G 4: 132,049,114 (GRCm39) Y30H probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ush2a A G 1: 188,683,758 (GRCm39) D4979G probably null Het
Usp50 C T 2: 126,619,943 (GRCm39) R123Q probably benign Het
Vmn2r117 A T 17: 23,696,454 (GRCm39) Y318N probably damaging Het
Whamm C T 7: 81,228,047 (GRCm39) T304I probably null Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Ythdf3 A G 3: 16,259,256 (GRCm39) N468D possibly damaging Het
Zbtb17 T C 4: 141,192,859 (GRCm39) I486T possibly damaging Het
Zfp3 T C 11: 70,662,202 (GRCm39) S54P probably benign Het
Zscan10 A T 17: 23,828,826 (GRCm39) H379L probably damaging 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
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
R4857:Duox1 UTSW 2 122,146,212 (GRCm39) missense probably benign 0.05
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'- GTCTGACTTGCTTCTCAGGC -3'
(R):5'- CGTTCCTGGTGTTTTCAAACCAG -3'

Sequencing Primer
(F):5'- ACACTATATGGAGGACTGGCTATTG -3'
(R):5'- CCTGGTGTTTTCAAACCAGTAACGG -3'
Posted On 2014-07-14