Incidental Mutation 'R6341:Duox1'
ID 514369
Institutional Source Beutler Lab
Gene Symbol Duox1
Ensembl Gene ENSMUSG00000033268
Gene Name dual oxidase 1
Synonyms NOXEF1, LNOX1, 9930101G15Rik, THOX1
MMRRC Submission 044495-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6341 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 122146153-122178453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122168202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1109 (I1109T)
Ref Sequence ENSEMBL: ENSMUSP00000097060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099461]
AlphaFold A2AQ92
Predicted Effect probably damaging
Transcript: ENSMUST00000099461
AA Change: I1109T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: I1109T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,924,364 (GRCm39) D658G possibly damaging Het
Amz2 A G 11: 109,319,653 (GRCm39) H13R probably benign Het
Ankrd27 G T 7: 35,326,828 (GRCm39) probably null Het
Atp8a1 T C 5: 67,840,270 (GRCm39) T704A possibly damaging Het
Cabin1 A T 10: 75,494,573 (GRCm39) M1602K probably damaging Het
Ccdc74a T C 16: 17,465,978 (GRCm39) S105P probably damaging Het
Cdh26 T A 2: 178,113,366 (GRCm39) probably null Het
Cxcl10 T C 5: 92,496,072 (GRCm39) I22V probably benign Het
Cyp2c68 A C 19: 39,700,933 (GRCm39) V295G possibly damaging Het
Ddx10 A T 9: 53,115,551 (GRCm39) D594E probably benign Het
Ddx5 T C 11: 106,676,368 (GRCm39) probably null Het
Dusp15 T C 2: 152,788,204 (GRCm39) probably null Het
Ecel1 A G 1: 87,078,193 (GRCm39) probably null Het
Efcab6 T G 15: 83,820,139 (GRCm39) Q714P possibly damaging Het
Erc1 A G 6: 119,754,959 (GRCm39) L464P possibly damaging Het
Fam234a T A 17: 26,432,667 (GRCm39) H494L probably damaging Het
Gfpt1 T C 6: 87,065,127 (GRCm39) V694A probably damaging Het
Gli2 T C 1: 118,763,954 (GRCm39) D1399G probably damaging Het
Gm10110 T C 14: 90,134,144 (GRCm39) noncoding transcript Het
Hdac3 A G 18: 38,077,217 (GRCm39) L219P probably damaging Het
Hlcs A G 16: 94,032,022 (GRCm39) F52S probably damaging Het
Ints7 C A 1: 191,345,239 (GRCm39) T643K probably damaging Het
Ireb2 A G 9: 54,816,064 (GRCm39) I878M probably damaging Het
Itga3 A T 11: 94,946,677 (GRCm39) probably null Het
Lrfn5 T A 12: 61,890,368 (GRCm39) Y552* probably null Het
Mafb T C 2: 160,208,371 (GRCm39) T76A probably damaging Het
Man2b1 A T 8: 85,822,028 (GRCm39) S748C probably damaging Het
Mmp15 G T 8: 96,092,091 (GRCm39) probably null Het
Mmp17 A T 5: 129,679,019 (GRCm39) R335W probably damaging Het
Muc5ac A T 7: 141,355,229 (GRCm39) D1005V probably damaging Het
Myh3 T C 11: 66,973,822 (GRCm39) F165S probably benign Het
Nacc1 T C 8: 85,401,420 (GRCm39) D419G probably benign Het
Neb G A 2: 52,099,486 (GRCm39) S4545L probably damaging Het
Niban3 C T 8: 72,052,721 (GRCm39) P65L probably damaging Het
Npas2 T C 1: 39,339,768 (GRCm39) I106T probably damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or5b12 T C 19: 12,896,843 (GRCm39) T277A probably benign Het
Pde4dip T A 3: 97,602,227 (GRCm39) Q2283L probably benign Het
Phax C T 18: 56,706,173 (GRCm39) T21M possibly damaging Het
Pitpnm1 A T 19: 4,152,829 (GRCm39) K79* probably null Het
Pkd1 T A 17: 24,799,201 (GRCm39) F2807I probably damaging Het
Plekha4 C T 7: 45,190,572 (GRCm39) R427C probably damaging Het
Ptprj A T 2: 90,288,693 (GRCm39) F757L probably benign Het
Rad1 A G 15: 10,492,907 (GRCm39) D208G probably damaging Het
Rangrf T A 11: 68,863,538 (GRCm39) N156I probably benign Het
Rasl11b T C 5: 74,359,037 (GRCm39) S181P probably damaging Het
Rigi T A 4: 40,222,199 (GRCm39) probably null Het
Rlf G A 4: 121,006,557 (GRCm39) Q808* probably null Het
Rogdi G T 16: 4,831,241 (GRCm39) probably null Het
Sec24a A T 11: 51,608,603 (GRCm39) V573D probably damaging Het
Sorbs2 A G 8: 46,223,615 (GRCm39) T200A probably damaging Het
Srgap2 C T 1: 131,219,367 (GRCm39) R259H probably benign Het
Ssc5d T A 7: 4,939,664 (GRCm39) V700E probably benign Het
Stt3a A T 9: 36,662,592 (GRCm39) H222Q probably damaging Het
Tcaf3 A T 6: 42,574,193 (GRCm39) D6E possibly damaging Het
Tdrd12 C T 7: 35,189,473 (GRCm39) R421H probably damaging Het
Top3b T C 16: 16,696,935 (GRCm39) M62T probably damaging Het
Trhr T G 15: 44,092,694 (GRCm39) Y310* probably null Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Usp34 A G 11: 23,331,353 (GRCm39) T1085A probably damaging Het
Vmn1r179 T A 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r31 A T 6: 58,448,995 (GRCm39) M290K probably benign Het
Wdr75 T C 1: 45,841,291 (GRCm39) probably null Het
Wnk1 A T 6: 119,925,546 (GRCm39) V1306D probably damaging Het
Xkr4 T C 1: 3,741,001 (GRCm39) T191A probably benign Het
Zc3h15 A G 2: 83,491,567 (GRCm39) E265G probably benign Het
Zcchc9 A G 13: 91,948,816 (GRCm39) F41S possibly damaging Het
Zfp251 T C 15: 76,738,337 (GRCm39) H247R probably damaging Het
Zfp433 A G 10: 81,555,957 (GRCm39) E152G probably damaging Het
Zfp770 A T 2: 114,027,240 (GRCm39) S276R 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
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
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'- TAAAGGACAACAGCGTCGCC -3'
(R):5'- GGGCTTCATTTCATCCCACAG -3'

Sequencing Primer
(F):5'- ACAGCGTCGCCTACAGC -3'
(R):5'- CCTTATCGACATTAAAGTTAGGTGC -3'
Posted On 2018-04-27