Incidental Mutation 'IGL00942:Iyd'
ID28354
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: 0.075) question?
Stock #IGL00942
Quality Score
Status
Chromosome10
Chromosomal Location3540240-3554877 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 3554070 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 239 (C239F)
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 damaging
Transcript: ENSMUST00000019896
AA Change: C239F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019896
Gene: ENSMUSG00000019762
AA Change: C239F

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,436 S62P possibly damaging Het
Arap2 A C 5: 62,698,389 L568* probably null Het
Arfgef2 G A 2: 166,885,853 V1574M probably damaging Het
Arhgef12 C T 9: 42,982,000 R969H probably damaging Het
Cacng1 A T 11: 107,704,369 F127L probably benign Het
Cntnap5c T C 17: 57,769,598 V10A probably benign Het
Crtac1 T G 19: 42,323,794 D160A probably damaging Het
Csmd3 C T 15: 47,847,106 probably null Het
Grin3a A G 4: 49,770,589 F728L probably damaging Het
Hecw1 C T 13: 14,340,740 probably benign Het
Hist1h3a T C 13: 23,761,938 probably benign Het
Madd A G 2: 91,170,578 V486A probably damaging Het
Map3k7 A G 4: 32,019,539 D533G probably damaging Het
Matk A G 10: 81,258,294 D20G probably benign Het
Mphosph10 A G 7: 64,389,755 S156P probably benign Het
Mtif2 G A 11: 29,538,753 E356K probably damaging Het
Ndufb10 T C 17: 24,724,184 probably null Het
Nipal3 A T 4: 135,468,593 L233Q possibly damaging Het
Olfr860 T C 9: 19,846,259 Y120C probably damaging Het
Prss32 T A 17: 23,859,160 C273* probably null Het
Prtg T C 9: 72,892,340 S807P possibly damaging Het
Ric3 T G 7: 109,054,412 E157D probably damaging Het
Ric3 T A 7: 109,054,413 E157V probably damaging Het
Slc16a14 G A 1: 84,922,871 T131I probably damaging Het
Slc1a2 A T 2: 102,739,814 N137Y probably damaging Het
Slc25a27 T C 17: 43,664,089 I94V probably benign Het
Slco1a1 G A 6: 141,946,628 T4I probably benign Het
Slf1 A T 13: 77,043,947 F923I possibly damaging Het
Ttll12 A C 15: 83,582,448 V306G possibly damaging Het
Tulp2 G A 7: 45,516,268 V97I possibly damaging Het
Vmn2r65 T G 7: 84,943,553 Q482P probably damaging Het
Wdr24 T A 17: 25,826,621 N443K probably benign Het
Other mutations in Iyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Iyd APN 10 3540444 missense probably benign
IGL01556:Iyd APN 10 3547091 missense probably benign 0.00
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 On2013-04-17