|Institutional Source||Beutler Lab|
|Gene Name||dual oxidase 1|
|Synonyms||THOX1, LNOX1, 9930101G15Rik, NOXEF1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5970 (G1)|
|Chromosomal Location||122315672-122347972 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 122340201 bp|
|Amino Acid Change||Leucine to Glutamine at position 1234 (L1234Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097060 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099461]|
|Predicted Effect||probably damaging
AA Change: L1234Q
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L1234Q
|Meta Mutation Damage Score||0.8438|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
|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|
|Other mutations in this stock||
|Other mutations in Duox1||
(F):5'- AGGGACATGGCTGAATACCC -3'
(R):5'- TCCAAGAGCCGCATAATGGG -3'
(F):5'- TGGCTGAATACCCCAGGAC -3'
(R):5'- CGCATAATGGGGTCAACCTACTG -3'