Incidental Mutation 'IGL00886:Iyd'
ID 45530
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 # IGL00886
Quality Score
Status
Chromosome 10
Chromosomal Location 3490274-3504880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3540444 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 50 (D50A)
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: D50A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019896
Gene: ENSMUSG00000019762
AA Change: D50A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,054,101 (GRCm39) R67H possibly damaging Het
Ak4 G T 4: 101,304,386 (GRCm39) E59* probably null Het
Ano10 T C 9: 122,100,390 (GRCm39) N116S probably benign Het
Arid1b T A 17: 5,177,254 (GRCm39) H658Q probably damaging Het
Atf2 G A 2: 73,675,847 (GRCm39) T208I possibly damaging Het
Bco1 T C 8: 117,857,376 (GRCm39) W448R probably damaging Het
Cel A T 2: 28,449,397 (GRCm39) C277S probably damaging Het
Chd5 T A 4: 152,444,156 (GRCm39) D296E probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Fmo9 T C 1: 166,507,714 (GRCm39) probably null Het
Gdpgp1 T G 7: 79,889,100 (GRCm39) L377R probably damaging Het
Gm26938 T A 5: 139,812,091 (GRCm39) D3V probably damaging Het
Gpld1 T A 13: 25,146,336 (GRCm39) Y193* probably null Het
Gtf2h4 T C 17: 35,980,874 (GRCm39) H265R probably damaging Het
Hadh G T 3: 131,043,465 (GRCm39) T83K probably benign Het
Hao1 T C 2: 134,365,079 (GRCm39) M183V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift88 T C 14: 57,715,525 (GRCm39) Y523H probably damaging Het
Il23r G T 6: 67,450,874 (GRCm39) Q202K possibly damaging Het
Katnal2 A T 18: 77,090,450 (GRCm39) L248Q probably damaging Het
Krtap26-1 A T 16: 88,444,267 (GRCm39) V118E possibly damaging Het
Lzic T C 4: 149,577,753 (GRCm39) probably null Het
Meak7 T C 8: 120,500,007 (GRCm39) probably benign Het
Mical2 T A 7: 111,914,279 (GRCm39) N316K probably benign Het
Ndufc2 T A 7: 97,049,397 (GRCm39) M1K probably null Het
Net1 A G 13: 3,943,391 (GRCm39) probably benign Het
Or13g1 G A 7: 85,956,259 (GRCm39) L21F probably damaging Het
Pde1c A G 6: 56,150,659 (GRCm39) Y287H probably damaging Het
Pitpnm1 T C 19: 4,160,665 (GRCm39) probably null Het
Pla2r1 T A 2: 60,254,668 (GRCm39) E1300V probably damaging Het
Polr3g T C 13: 81,842,796 (GRCm39) Y73C probably damaging Het
Ryr1 T A 7: 28,723,654 (GRCm39) E4137V probably damaging Het
Scrib T C 15: 75,920,643 (GRCm39) D1425G possibly damaging Het
Slc25a12 A G 2: 71,174,376 (GRCm39) Y23H possibly damaging Het
Spef2 C A 15: 9,663,181 (GRCm39) G867W probably damaging Het
Strn3 A T 12: 51,656,933 (GRCm39) Y698N probably damaging Het
Ube3a T A 7: 58,934,485 (GRCm39) F533I probably damaging Het
Other mutations in Iyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-11