Incidental Mutation 'R2906:Duoxa1'
ID 261642
Institutional Source Beutler Lab
Gene Symbol Duoxa1
Ensembl Gene ENSMUSG00000027224
Gene Name dual oxidase maturation factor 1
Synonyms Nip1
MMRRC Submission 040493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2906 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122134012-122144255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122135155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 197 (V197M)
Ref Sequence ENSEMBL: ENSMUSP00000106167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028653] [ENSMUST00000028656] [ENSMUST00000110537] [ENSMUST00000110538] [ENSMUST00000147788] [ENSMUST00000148417] [ENSMUST00000154412]
AlphaFold Q8VE49
Predicted Effect probably benign
Transcript: ENSMUST00000028653
AA Change: V242M

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028653
Gene: ENSMUSG00000027224
AA Change: V242M

DomainStartEndE-ValueType
Pfam:DuoxA 10 287 7.2e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028656
SMART Domains Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225

DomainStartEndE-ValueType
Pfam:DuoxA 10 286 5.5e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110537
AA Change: V242M

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106166
Gene: ENSMUSG00000027224
AA Change: V242M

DomainStartEndE-ValueType
Pfam:DuoxA 9 290 3.9e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110538
AA Change: V197M

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106167
Gene: ENSMUSG00000027224
AA Change: V197M

DomainStartEndE-ValueType
Pfam:DuoxA 9 70 1.7e-23 PFAM
Pfam:DuoxA 67 245 2.4e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147788
SMART Domains Protein: ENSMUSP00000116280
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 134 5.9e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148417
SMART Domains Protein: ENSMUSP00000116963
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 210 1.2e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154412
SMART Domains Protein: ENSMUSP00000116911
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 100 6.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155561
Meta Mutation Damage Score 0.1062 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele of Duoxa1 and 2 exhibit severe hypothyrodism with severe postnatal growth, delayed eye opening, enlarged thyroid, enlarged adenohypophysis, respiratory distress and death at weaning when weaned at 21 days. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Adgrg6 A G 10: 14,308,694 (GRCm39) I800T probably benign Het
Afg3l2 G A 18: 67,573,292 (GRCm39) T170M probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Cd96 T C 16: 45,871,850 (GRCm39) T432A possibly damaging Het
Col13a1 T C 10: 61,696,267 (GRCm39) probably benign Het
Ddx4 G T 13: 112,757,311 (GRCm39) probably benign Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gm6430 A T 1: 96,952,554 (GRCm39) noncoding transcript Het
Gtf2a1l G A 17: 89,002,083 (GRCm39) R313H possibly damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Lax1 A T 1: 133,616,643 (GRCm39) M1K probably null Het
Lce1k T C 3: 92,713,882 (GRCm39) S101G unknown Het
Med12l T C 3: 59,164,503 (GRCm39) L1365P probably damaging Het
Mtx2 T C 2: 74,697,253 (GRCm39) S83P probably damaging Het
Naip2 A C 13: 100,298,504 (GRCm39) C511G probably damaging Het
Nefh A G 11: 4,890,216 (GRCm39) I801T probably benign Het
Or8g24 A G 9: 38,989,669 (GRCm39) V124A probably benign Het
Oxct2b A G 4: 123,010,823 (GRCm39) I248V probably benign Het
Pcdhgb2 A T 18: 37,823,908 (GRCm39) I300F probably damaging Het
Ptprc G A 1: 137,992,272 (GRCm39) A1285V possibly damaging Het
Rassf3 A G 10: 121,250,297 (GRCm39) L172P probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Rpusd1 T C 17: 25,949,705 (GRCm39) S292P probably benign Het
Scamp5 A G 9: 57,351,146 (GRCm39) V172A probably damaging Het
Snx25 T C 8: 46,502,560 (GRCm39) probably null Het
Tmprss11g A G 5: 86,640,661 (GRCm39) probably benign Het
Ttll3 G C 6: 113,369,471 (GRCm39) probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Usp45 T A 4: 21,834,338 (GRCm39) Y805* probably null Het
Zfp639 T C 3: 32,573,900 (GRCm39) L175P probably damaging Het
Zfp995 T C 17: 22,099,247 (GRCm39) D329G probably benign Het
Other mutations in Duoxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Duoxa1 APN 2 122,135,127 (GRCm39) missense probably benign 0.35
Minima UTSW 2 122,134,318 (GRCm39) missense probably damaging 1.00
nadir UTSW 2 122,136,861 (GRCm39) splice site probably benign
perigee UTSW 2 122,135,672 (GRCm39) nonsense probably null
R0675:Duoxa1 UTSW 2 122,136,861 (GRCm39) splice site probably benign
R0755:Duoxa1 UTSW 2 122,135,161 (GRCm39) missense probably benign 0.03
R1387:Duoxa1 UTSW 2 122,134,468 (GRCm39) missense possibly damaging 0.82
R5327:Duoxa1 UTSW 2 122,134,361 (GRCm39) missense probably damaging 0.98
R5886:Duoxa1 UTSW 2 122,134,291 (GRCm39) missense possibly damaging 0.82
R6514:Duoxa1 UTSW 2 122,135,194 (GRCm39) missense probably benign 0.02
R6841:Duoxa1 UTSW 2 122,134,462 (GRCm39) missense probably damaging 1.00
R6845:Duoxa1 UTSW 2 122,135,672 (GRCm39) nonsense probably null
R6959:Duoxa1 UTSW 2 122,134,318 (GRCm39) missense probably damaging 1.00
R7232:Duoxa1 UTSW 2 122,135,728 (GRCm39) missense probably damaging 1.00
R9473:Duoxa1 UTSW 2 122,134,326 (GRCm39) missense probably benign
R9717:Duoxa1 UTSW 2 122,135,622 (GRCm39) missense probably damaging 1.00
X0017:Duoxa1 UTSW 2 122,135,200 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GGCATGGCCTCTAGGAAGAG -3'
(R):5'- GGCATTCCTCTGCTGGCTAC -3'

Sequencing Primer
(F):5'- TTAGGGGACAATGGATGTGGC -3'
(R):5'- CTACTGGCCAATGTGATGTTGTC -3'
Posted On 2015-01-23