Incidental Mutation 'R7421:Duox1'
ID 575647
Institutional Source Beutler Lab
Gene Symbol Duox1
Ensembl Gene ENSMUSG00000033268
Gene Name dual oxidase 1
Synonyms NOXEF1, LNOX1, 9930101G15Rik, THOX1
MMRRC Submission 045499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7421 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 122146153-122178453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122153711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 345 (C345S)
Ref Sequence ENSEMBL: ENSMUSP00000097060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099461]
AlphaFold A2AQ92
Predicted Effect probably damaging
Transcript: ENSMUST00000099461
AA Change: C345S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: C345S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T C 2: 156,397,915 (GRCm39) I309T possibly damaging Het
Abca12 A C 1: 71,286,295 (GRCm39) L2513* probably null Het
Abca13 G C 11: 9,460,463 (GRCm39) V4158L probably benign Het
Acaca A G 11: 84,254,562 (GRCm39) T1880A possibly damaging Het
Arhgap5 C T 12: 52,564,783 (GRCm39) R585C probably benign Het
Arsk A C 13: 76,210,634 (GRCm39) I471S possibly damaging Het
Asb7 T C 7: 66,309,868 (GRCm39) D116G probably damaging Het
Atad2 A G 15: 57,998,322 (GRCm39) S17P probably benign Het
Atf5 T C 7: 44,464,562 (GRCm39) E10G probably damaging Het
B3gntl1 G T 11: 121,515,004 (GRCm39) P255T probably benign Het
Cacna1s A G 1: 136,014,540 (GRCm39) N649S probably damaging Het
Ccnc A G 4: 21,743,291 (GRCm39) Y192C probably damaging Het
Cd28 A G 1: 60,802,459 (GRCm39) N126S probably benign Het
Cep57 A G 9: 13,721,969 (GRCm39) S360P possibly damaging Het
Ces1e C T 8: 93,941,703 (GRCm39) V257I probably benign Het
Chd1 A G 17: 15,969,660 (GRCm39) K913R probably benign Het
Cluap1 A T 16: 3,758,657 (GRCm39) D373V probably damaging Het
Cnmd T C 14: 79,882,947 (GRCm39) I160V probably benign Het
Col6a4 G A 9: 105,897,994 (GRCm39) P1686S probably damaging Het
Coro7 G T 16: 4,486,615 (GRCm39) A186E probably benign Het
Cuta T C 17: 27,158,431 (GRCm39) probably benign Het
Dnah2 G A 11: 69,383,631 (GRCm39) H1098Y probably benign Het
Ephb4 T A 5: 137,352,687 (GRCm39) I90K possibly damaging Het
Erich3 T A 3: 154,439,198 (GRCm39) M280K probably damaging Het
Fcer2a T A 8: 3,740,335 (GRCm39) H4L probably benign Het
Grk1 A T 8: 13,455,316 (GRCm39) I67F probably damaging Het
Grm8 A C 6: 27,762,476 (GRCm39) S250A possibly damaging Het
H2-Q6 A G 17: 35,644,204 (GRCm39) E62G possibly damaging Het
Inppl1 C T 7: 101,482,144 (GRCm39) R144H probably damaging Het
Itga3 G T 11: 94,959,681 (GRCm39) P33Q probably benign Het
Itgax G A 7: 127,739,604 (GRCm39) S672N probably damaging Het
Itpk1 A T 12: 102,540,324 (GRCm39) V253E possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Mrps7 T C 11: 115,495,717 (GRCm39) V85A probably benign Het
Muc2 T C 7: 141,301,863 (GRCm39) L427P Het
Myef2 G T 2: 124,952,537 (GRCm39) Q185K probably benign Het
Or1e1b-ps1 G T 11: 73,846,335 (GRCm39) C273F unknown Het
Or4a76 T A 2: 89,460,915 (GRCm39) D109V probably damaging Het
Pcdh15 G A 10: 74,289,897 (GRCm39) M905I possibly damaging Het
Pgm5 C T 19: 24,686,663 (GRCm39) V515M probably benign Het
Pik3r1 A G 13: 101,825,644 (GRCm39) I381T probably damaging Het
Pla2g4f A G 2: 120,137,737 (GRCm39) M341T probably benign Het
Prmt2 A G 10: 76,056,912 (GRCm39) F204L probably benign Het
Pwwp3a T A 10: 80,068,587 (GRCm39) S244T probably benign Het
Rasa2 A G 9: 96,493,500 (GRCm39) V50A unknown Het
Scn7a A C 2: 66,505,876 (GRCm39) I1671S probably benign Het
Sco2 G A 15: 89,255,923 (GRCm39) R244C possibly damaging Het
Skic3 A T 13: 76,296,944 (GRCm39) K1100N probably benign Het
Slfn1 A G 11: 83,011,967 (GRCm39) M28V possibly damaging Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Slfn9 A G 11: 82,878,562 (GRCm39) I189T probably damaging Het
Svil T A 18: 5,056,109 (GRCm39) S327R probably benign Het
Tcaf3 A T 6: 42,573,776 (GRCm39) N145K probably benign Het
Trarg1 G A 11: 76,585,051 (GRCm39) R147Q unknown Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Upp2 G T 2: 58,661,586 (GRCm39) V130F possibly damaging Het
Vnn3 G A 10: 23,741,666 (GRCm39) A324T probably benign Het
Wasf2 A G 4: 132,912,412 (GRCm39) E88G unknown Het
Zfp39 A T 11: 58,780,933 (GRCm39) C610S 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
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
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
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'- TCAAGGTCTTGATTACACAGCAG -3'
(R):5'- ATCATGTCCCCAAGCTGTTC -3'

Sequencing Primer
(F):5'- TCTTGATTACACAGCAGATAAGGG -3'
(R):5'- CATCCGAGCTGCTACTTCAG -3'
Posted On 2019-10-07