Incidental Mutation 'IGL01556:Iyd'
ID 90710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iyd
Ensembl Gene ENSMUSG00000019762
Gene Name iodotyrosine deiodinase
Synonyms 0610009A07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01556
Quality Score
Status
Chromosome 10
Chromosomal Location 3490274-3504880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3497091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 149 (I149V)
Ref Sequence ENSEMBL: ENSMUSP00000019896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019896]
AlphaFold Q9DCX8
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: 114,571,741 (GRCm39) I81V probably benign Het
Aoc1l1 A C 6: 48,952,618 (GRCm39) D181A possibly damaging Het
Armc3 T A 2: 19,273,957 (GRCm39) D330E probably damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Atp8b3 A C 10: 80,366,802 (GRCm39) Y265* probably null Het
Cby2 A G 14: 75,821,551 (GRCm39) F16S probably damaging Het
Cdh11 A G 8: 103,406,276 (GRCm39) Y66H probably damaging Het
Cntn5 T A 9: 9,673,913 (GRCm39) M730L probably benign Het
Cntrl A G 2: 35,063,071 (GRCm39) T1556A probably benign Het
Dixdc1 A G 9: 50,617,434 (GRCm39) S128P probably damaging Het
Egfr T C 11: 16,855,382 (GRCm39) L889S probably damaging Het
F830045P16Rik A G 2: 129,305,640 (GRCm39) Y245H probably benign Het
Fam124a G A 14: 62,825,181 (GRCm39) C225Y probably damaging Het
Frem2 T C 3: 53,442,702 (GRCm39) T2612A probably benign Het
Gkap1 A T 13: 58,411,106 (GRCm39) I89N probably benign Het
Gm8247 A T 14: 44,823,811 (GRCm39) K75* probably null Het
Gpi-ps A G 8: 5,689,833 (GRCm39) noncoding transcript Het
Hdac11 T A 6: 91,150,162 (GRCm39) H320Q probably benign Het
Krtap4-6 T A 11: 99,556,676 (GRCm39) Q17L unknown Het
Lrrc24 T A 15: 76,606,775 (GRCm39) D207V probably damaging Het
Mfsd12 G A 10: 81,198,858 (GRCm39) C425Y probably damaging Het
Muc5b A G 7: 141,416,977 (GRCm39) T3308A probably benign Het
Myo18b A G 5: 112,905,315 (GRCm39) probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Nin A G 12: 70,089,962 (GRCm39) V1151A probably benign Het
Nrf1 A G 6: 30,126,366 (GRCm39) probably benign Het
Pcdhb20 T C 18: 37,637,852 (GRCm39) I126T possibly damaging Het
Pdgfra G T 5: 75,338,352 (GRCm39) L535F probably damaging Het
Pkn2 A T 3: 142,535,078 (GRCm39) I212K possibly damaging Het
Slc5a9 T A 4: 111,755,833 (GRCm39) T22S probably benign Het
Slitrk1 A G 14: 109,150,450 (GRCm39) L87S probably damaging Het
Syne2 C A 12: 76,134,589 (GRCm39) R29S probably damaging Het
Zc3h12b C A X: 94,970,721 (GRCm39) F551L probably damaging Het
Zfp664 C A 5: 124,963,252 (GRCm39) C215* probably null Het
Other mutations in Iyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Iyd APN 10 3,540,444 (GRCm38) missense probably benign
IGL00942:Iyd APN 10 3,554,070 (GRCm38) missense probably damaging 1.00
IGL01907:Iyd APN 10 3,490,407 (GRCm39) missense probably damaging 1.00
IGL03137:Iyd APN 10 3,501,987 (GRCm39) missense probably damaging 0.99
R0628:Iyd UTSW 10 3,497,127 (GRCm39) missense probably damaging 1.00
R0843:Iyd UTSW 10 3,495,663 (GRCm39) missense possibly damaging 0.94
R1636:Iyd UTSW 10 3,495,588 (GRCm39) missense possibly damaging 0.75
R2156:Iyd UTSW 10 3,497,166 (GRCm39) critical splice donor site probably null
R7349:Iyd UTSW 10 3,495,638 (GRCm39) missense possibly damaging 0.94
R7376:Iyd UTSW 10 3,495,690 (GRCm39) missense probably damaging 1.00
R7423:Iyd UTSW 10 3,497,088 (GRCm39) missense probably damaging 1.00
R9054:Iyd UTSW 10 3,490,250 (GRCm39) utr 5 prime probably benign
R9546:Iyd UTSW 10 3,501,884 (GRCm39) missense possibly damaging 0.69
Posted On 2013-12-09