Incidental Mutation 'R4904:Duox1'
ID 430226
Institutional Source Beutler Lab
Gene Symbol Duox1
Ensembl Gene ENSMUSG00000033268
Gene Name dual oxidase 1
Synonyms NOXEF1, LNOX1, 9930101G15Rik, THOX1
MMRRC Submission 042507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4904 (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 122151345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 310 (Y310N)
Ref Sequence ENSEMBL: ENSMUSP00000097060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099461]
AlphaFold A2AQ92
Predicted Effect probably damaging
Transcript: ENSMUST00000099461
AA Change: Y310N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: Y310N

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 0.9437 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 129,906,332 (GRCm39) I920S possibly damaging Het
Afap1l1 A G 18: 61,871,786 (GRCm39) I556T probably benign Het
Ankfy1 C A 11: 72,642,931 (GRCm39) H665N probably benign Het
Aqp9 A C 9: 71,069,685 (GRCm39) probably benign Het
Arhgap21 A G 2: 20,854,872 (GRCm39) S1497P probably benign Het
Armc7 A G 11: 115,379,800 (GRCm39) D166G probably damaging Het
Arrdc1 C A 2: 24,816,676 (GRCm39) V167F possibly damaging Het
Col6a3 A T 1: 90,729,164 (GRCm39) I1259N probably damaging Het
Coq8a C T 1: 180,006,168 (GRCm39) R207Q probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcbld1 C T 10: 52,196,066 (GRCm39) Q425* probably null Het
Def8 A G 8: 124,188,219 (GRCm39) N445D probably damaging Het
Dicer1 C T 12: 104,679,325 (GRCm39) V551I probably benign Het
Dst A T 1: 34,208,879 (GRCm39) T800S probably damaging Het
Dtl A T 1: 191,300,457 (GRCm39) C136S probably damaging Het
Duxf1 T A 10: 58,059,309 (GRCm39) R482* probably null Het
Ebf1 T C 11: 44,759,996 (GRCm39) F211S probably damaging Het
Gm44501 A T 17: 40,889,884 (GRCm39) I133F possibly damaging Het
Gm6625 T C 8: 89,873,379 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,713,748 (GRCm39) D243V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l G A 17: 88,997,471 (GRCm39) probably null Het
Herc2 T C 7: 55,807,234 (GRCm39) F2471L probably damaging Het
Hfe A T 13: 23,892,037 (GRCm39) I109N probably damaging Het
Hrg A G 16: 22,770,000 (GRCm39) E43G probably benign Het
Hspa1a T C 17: 35,189,427 (GRCm39) D492G probably damaging Het
Itgb8 T C 12: 119,134,606 (GRCm39) D487G probably benign Het
Jag1 A G 2: 136,929,062 (GRCm39) V798A probably damaging Het
Kcnq5 A G 1: 21,494,324 (GRCm39) V501A probably damaging Het
Kntc1 T C 5: 123,916,396 (GRCm39) V743A possibly damaging Het
Ly86 G T 13: 37,599,496 (GRCm39) V126F possibly damaging Het
Med26 A T 8: 73,250,691 (GRCm39) L136H probably damaging Het
Mpp3 T C 11: 101,891,413 (GRCm39) D575G probably benign Het
Myoc G A 1: 162,466,994 (GRCm39) M54I probably benign Het
Nlrp1c-ps A G 11: 71,133,454 (GRCm39) noncoding transcript Het
Or10v9 C T 19: 11,833,231 (GRCm39) V29M possibly damaging Het
Or51t4 A G 7: 102,598,272 (GRCm39) Y190C probably damaging Het
Or5v1b A G 17: 37,841,522 (GRCm39) Y218C probably damaging Het
Pak5 A T 2: 135,925,267 (GRCm39) D678E probably benign Het
Pcdhb12 T C 18: 37,570,909 (GRCm39) V685A possibly damaging Het
Pcdhga2 A G 18: 37,802,932 (GRCm39) T259A possibly damaging Het
Pde6a A T 18: 61,398,105 (GRCm39) M702L probably benign Het
Pigq A G 17: 26,150,034 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ptch1 A C 13: 63,670,818 (GRCm39) I904S probably damaging Het
Rflnb A T 11: 75,912,964 (GRCm39) C141* probably null Het
Rilpl1 C A 5: 124,652,807 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,358,544 (GRCm39) S217P possibly damaging Het
Rpgrip1 A T 14: 52,397,586 (GRCm39) I1292F probably damaging Het
Sema3a A C 5: 13,631,066 (GRCm39) Y534S probably damaging Het
Sez6 A G 11: 77,866,080 (GRCm39) Y736C probably damaging Het
Shank1 G T 7: 43,983,464 (GRCm39) probably benign Het
Slc45a4 G A 15: 73,458,691 (GRCm39) S294F probably benign Het
Slc9a8 A G 2: 167,313,316 (GRCm39) I393V possibly damaging Het
Sod1 T A 16: 90,019,732 (GRCm39) F46Y probably damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Syn3 T G 10: 86,302,950 (GRCm39) K68N possibly damaging Het
Taar8c C T 10: 23,977,147 (GRCm39) V222I probably benign Het
Tbx20 T C 9: 24,670,129 (GRCm39) K235E probably damaging Het
Tcaf3 C A 6: 42,570,931 (GRCm39) E274* probably null Het
Tll1 A T 8: 64,523,233 (GRCm39) M493K probably benign Het
Tmem236 T A 2: 14,200,803 (GRCm39) S123T probably benign Het
Trim33 T C 3: 103,238,963 (GRCm39) V647A possibly damaging Het
Tspear T A 10: 77,705,489 (GRCm39) Y296N possibly damaging Het
Vps13d T C 4: 144,882,015 (GRCm39) K1187E probably damaging Het
Xpot C T 10: 121,453,083 (GRCm39) V52I probably benign Het
Zdhhc3 A T 9: 122,929,452 (GRCm39) V61E probably damaging Het
Zfp955a A T 17: 33,461,162 (GRCm39) C323* probably null 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
R4857:Duox1 UTSW 2 122,146,212 (GRCm39) missense probably benign 0.05
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'- GTCCTCGTGTCTACCTGTAAG -3'
(R):5'- CTGAGAACTCCTGAAGGCAG -3'

Sequencing Primer
(F):5'- TCAGGGCTAGTCCTACACACG -3'
(R):5'- GAACTCCTGAAGGCAGATTTTTATC -3'
Posted On 2016-09-26