Incidental Mutation 'IGL02067:Duoxa2'
ID 185683
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Duoxa2
Ensembl Gene ENSMUSG00000027225
Gene Name dual oxidase maturation factor 2
Synonyms 9030623N16Rik, Nip2
Accession Numbers
Essential gene? Probably essential (E-score: 0.767) question?
Stock # IGL02067
Quality Score
Status
Chromosome 2
Chromosomal Location 122129381-122133088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122131072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 78 (V78M)
Ref Sequence ENSEMBL: ENSMUSP00000028656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028653] [ENSMUST00000028656] [ENSMUST00000053734] [ENSMUST00000110537] [ENSMUST00000110538] [ENSMUST00000147788] [ENSMUST00000148417]
AlphaFold Q9D311
Predicted Effect probably benign
Transcript: ENSMUST00000028653
SMART Domains Protein: ENSMUSP00000028653
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 10 287 7.2e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000028656
AA Change: V78M

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028656
Gene: ENSMUSG00000027225
AA Change: V78M

DomainStartEndE-ValueType
Pfam:DuoxA 10 286 5.5e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053734
SMART Domains Protein: ENSMUSP00000050314
Gene: ENSMUSG00000068452

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:An_peroxidase 35 560 5e-131 PFAM
transmembrane domain 600 622 N/A INTRINSIC
EFh 823 851 3.7e-5 SMART
EFh 859 887 2.09e-4 SMART
transmembrane domain 1010 1032 N/A INTRINSIC
Pfam:Ferric_reduct 1053 1202 1.8e-22 PFAM
Pfam:FAD_binding_8 1238 1340 3.1e-20 PFAM
Pfam:NAD_binding_6 1346 1500 1.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110537
SMART Domains Protein: ENSMUSP00000106166
Gene: ENSMUSG00000027224

DomainStartEndE-ValueType
Pfam:DuoxA 9 290 3.9e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110538
SMART Domains Protein: ENSMUSP00000106167
Gene: ENSMUSG00000027224

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 noncoding transcript
Transcript: ENSMUST00000155561
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,691,816 (GRCm39) R36* probably null Het
Aplp2 T A 9: 31,062,191 (GRCm39) K688N probably damaging Het
Arhgef28 G T 13: 98,213,825 (GRCm39) Q13K probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Chrna6 A G 8: 27,894,424 (GRCm39) S494P probably damaging Het
Clcc1 T A 3: 108,576,037 (GRCm39) L195H probably damaging Het
Coq3 A G 4: 21,900,397 (GRCm39) E208G probably benign Het
Dock4 T G 12: 40,884,384 (GRCm39) S1684A probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Fam8a1 G T 13: 46,823,324 (GRCm39) R88L possibly damaging Het
Ganc A G 2: 120,236,785 (GRCm39) D23G probably benign Het
Gm14305 A T 2: 176,411,110 (GRCm39) E53D probably damaging Het
Ing5 T A 1: 93,739,648 (GRCm39) L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,106,351 (GRCm39) D164G probably damaging Het
Lama2 G A 10: 27,052,792 (GRCm39) T1389M probably benign Het
Lrp6 A T 6: 134,457,359 (GRCm39) I815K probably damaging Het
Nek10 A G 14: 14,861,639 (GRCm38) D565G probably benign Het
Opa1 A G 16: 29,435,473 (GRCm39) E641G probably damaging Het
Rbm44 T C 1: 91,080,567 (GRCm39) S252P probably damaging Het
Sbf1 A G 15: 89,173,247 (GRCm39) V1810A probably damaging Het
Sh3pxd2b T C 11: 32,373,095 (GRCm39) V754A probably benign Het
Slc27a6 A G 18: 58,745,263 (GRCm39) T566A probably benign Het
Stxbp6 C T 12: 44,908,081 (GRCm39) R179Q probably damaging Het
Supt6 T A 11: 78,121,983 (GRCm39) Y223F probably benign Het
Tdrd6 T C 17: 43,939,100 (GRCm39) I649M probably damaging Het
Tecrl A T 5: 83,432,122 (GRCm39) C258S probably benign Het
Zfp128 T C 7: 12,618,977 (GRCm39) I74T possibly damaging Het
Other mutations in Duoxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02194:Duoxa2 APN 2 122,132,330 (GRCm39) missense possibly damaging 0.92
R1681:Duoxa2 UTSW 2 122,129,643 (GRCm39) splice site probably null
R2186:Duoxa2 UTSW 2 122,129,655 (GRCm39) missense probably damaging 1.00
R4062:Duoxa2 UTSW 2 122,131,058 (GRCm39) missense probably damaging 1.00
R4064:Duoxa2 UTSW 2 122,131,058 (GRCm39) missense probably damaging 1.00
R4757:Duoxa2 UTSW 2 122,131,072 (GRCm39) missense possibly damaging 0.93
R4791:Duoxa2 UTSW 2 122,131,679 (GRCm39) missense probably damaging 1.00
R5485:Duoxa2 UTSW 2 122,129,633 (GRCm39) missense possibly damaging 0.82
R6025:Duoxa2 UTSW 2 122,132,332 (GRCm39) missense possibly damaging 0.92
R7335:Duoxa2 UTSW 2 122,131,821 (GRCm39) missense possibly damaging 0.92
R8919:Duoxa2 UTSW 2 122,132,357 (GRCm39) critical splice donor site probably null
R9086:Duoxa2 UTSW 2 122,131,821 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07