Incidental Mutation 'IGL01556:Iyd'
ID90710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iyd
Ensembl Gene ENSMUSG00000019762
Gene Nameiodotyrosine deiodinase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL01556
Quality Score
Status
Chromosome10
Chromosomal Location3540240-3554877 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3547091 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 149 (I149V)
Ref Sequence ENSEMBL: ENSMUSP00000019896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019896]
PDB Structure
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) bound to FMN [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) bound to FMN and mono-iodotyrosine (MIT) [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) bound to FMN and di-iodotyrosine (DIT) [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) C217A, C239A bound to FMN and mono-iodotyrosine (MIT) [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) C217A, C239A bound to FMN [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000019896
AA Change: I149V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000019896
Gene: ENSMUSG00000019762
AA Change: I149V

DomainStartEndE-ValueType
transmembrane domain 2 20 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
Pfam:Nitroreductase 93 263 3.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141745
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 enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 113,845,109 I81V probably benign Het
Armc3 T A 2: 19,269,146 D330E probably damaging Het
Atp6v0b A G 4: 117,885,865 F49S probably damaging Het
Atp8b3 A C 10: 80,530,968 Y265* probably null Het
Cdh11 A G 8: 102,679,644 Y66H probably damaging Het
Cntn5 T A 9: 9,673,908 M730L probably benign Het
Cntrl A G 2: 35,173,059 T1556A probably benign Het
Dixdc1 A G 9: 50,706,134 S128P probably damaging Het
Doxl2 A C 6: 48,975,684 D181A possibly damaging Het
Egfr T C 11: 16,905,382 L889S probably damaging Het
F830045P16Rik A G 2: 129,463,720 Y245H probably benign Het
Fam124a G A 14: 62,587,732 C225Y probably damaging Het
Frem2 T C 3: 53,535,281 T2612A probably benign Het
Gkap1 A T 13: 58,263,292 I89N probably benign Het
Gm1840 A G 8: 5,639,833 noncoding transcript Het
Gm8247 A T 14: 44,586,354 K75* probably null Het
Hdac11 T A 6: 91,173,180 H320Q probably benign Het
Krtap4-6 T A 11: 99,665,850 Q17L unknown Het
Lrrc24 T A 15: 76,722,575 D207V probably damaging Het
Mfsd12 G A 10: 81,363,024 C425Y probably damaging Het
Muc5b A G 7: 141,863,240 T3308A probably benign Het
Myo18b A G 5: 112,757,449 probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Nin A G 12: 70,043,188 V1151A probably benign Het
Nrf1 A G 6: 30,126,367 probably benign Het
Pcdhb20 T C 18: 37,504,799 I126T possibly damaging Het
Pdgfra G T 5: 75,177,691 L535F probably damaging Het
Pkn2 A T 3: 142,829,317 I212K possibly damaging Het
Slc5a9 T A 4: 111,898,636 T22S probably benign Het
Slitrk1 A G 14: 108,913,018 L87S probably damaging Het
Spert A G 14: 75,584,111 F16S probably damaging Het
Syne2 C A 12: 76,087,815 R29S probably damaging Het
Zc3h12b C A X: 95,927,115 F551L probably damaging Het
Zfp664 C A 5: 124,886,188 C215* probably null Het
Other mutations in Iyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Iyd APN 10 3540444 missense probably benign
IGL00942:Iyd APN 10 3554070 missense probably damaging 1.00
IGL01907:Iyd APN 10 3540407 missense probably damaging 1.00
IGL03137:Iyd APN 10 3551987 missense probably damaging 0.99
R0628:Iyd UTSW 10 3547127 missense probably damaging 1.00
R0843:Iyd UTSW 10 3545663 missense possibly damaging 0.94
R1636:Iyd UTSW 10 3545588 missense possibly damaging 0.75
R2156:Iyd UTSW 10 3547166 critical splice donor site probably null
R7349:Iyd UTSW 10 3545638 missense possibly damaging 0.94
R7376:Iyd UTSW 10 3545690 missense probably damaging 1.00
R7423:Iyd UTSW 10 3547088 missense probably damaging 1.00
Posted On2013-12-09