Incidental Mutation 'R2507:Duox1'
ID 251275
Institutional Source Beutler Lab
Gene Symbol Duox1
Ensembl Gene ENSMUSG00000033268
Gene Name dual oxidase 1
Synonyms NOXEF1, LNOX1, 9930101G15Rik, THOX1
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2507 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 122146153-122178453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122163619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 817 (D817G)
Ref Sequence ENSEMBL: ENSMUSP00000097060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099461]
AlphaFold A2AQ92
Predicted Effect probably benign
Transcript: ENSMUST00000099461
AA Change: D817G

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097060
Gene: ENSMUSG00000033268
AA Change: D817G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Exoc2 A G 13: 31,066,348 (GRCm39) Y443H possibly damaging Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gm12695 T A 4: 96,642,426 (GRCm39) E301V probably damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Or6b3 A G 1: 92,439,100 (GRCm39) S217P probably damaging Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pds5b C A 5: 150,679,893 (GRCm39) T533K possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc45b G A 11: 82,830,963 (GRCm39) probably null Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Usb1 T C 8: 96,069,752 (GRCm39) F100S probably damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R 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
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'- AAAGTAGCCGCATCAACCTG -3'
(R):5'- TCGGTCGTAGTTGAAGACTTAGC -3'

Sequencing Primer
(F):5'- CTGTAAGTGAAAGATGCCTCCTC -3'
(R):5'- TAGTTGAAGACTTAGCCTCAGGC -3'
Posted On 2014-12-04