Incidental Mutation 'IGL01907:Iyd'
ID 179700
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: 0.069) question?
Stock # IGL01907
Quality Score
Status
Chromosome 10
Chromosomal Location 3490274-3504880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3490407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 38 (P38S)
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 damaging
Transcript: ENSMUST00000019896
AA Change: P38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019896
Gene: ENSMUSG00000019762
AA Change: P38S

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1g1 T C 8: 110,569,975 (GRCm39) probably benign Het
Asph A T 4: 9,514,643 (GRCm39) D491E possibly damaging Het
Cyrib A G 15: 63,803,535 (GRCm39) probably benign Het
D930020B18Rik A G 10: 121,477,915 (GRCm39) N47D probably damaging Het
Gad1 T C 2: 70,404,470 (GRCm39) V120A possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Grin2b T G 6: 135,710,738 (GRCm39) E936A probably damaging Het
Iars1 T C 13: 49,863,131 (GRCm39) F528L probably damaging Het
Krt24 A G 11: 99,176,030 (GRCm39) F2L unknown Het
Mnat1 T A 12: 73,319,213 (GRCm39) S279T probably benign Het
Mptx1 A T 1: 174,160,212 (GRCm39) I173L probably benign Het
Or9g20 T A 2: 85,629,946 (GRCm39) T223S probably benign Het
Per1 T C 11: 68,996,425 (GRCm39) S810P probably benign Het
Racgap1 T A 15: 99,524,214 (GRCm39) K398* probably null Het
Rnf133 T C 6: 23,649,303 (GRCm39) N209D probably benign Het
Rp1 T C 1: 4,418,730 (GRCm39) E794G possibly damaging Het
Ryr3 A T 2: 112,699,346 (GRCm39) probably benign Het
Slc27a2 A G 2: 126,429,794 (GRCm39) T465A probably benign Het
Smarca2 T C 19: 26,675,865 (GRCm39) M1035T possibly damaging Het
Spink5 A G 18: 44,129,743 (GRCm39) N445D probably damaging Het
Stard3nl G A 13: 19,556,759 (GRCm39) A127V probably damaging Het
Trim69 C T 2: 121,998,142 (GRCm39) T38M probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp438 G A 18: 5,213,815 (GRCm39) A381V probably damaging 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
IGL01556:Iyd APN 10 3,497,091 (GRCm39) missense probably benign 0.00
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 2014-05-07