Incidental Mutation 'IGL00942:Iyd'
ID 28354
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 # IGL00942
Quality Score
Status
Chromosome 10
Chromosomal Location 3490274-3504880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3554070 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 239 (C239F)
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: 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
Arap2 A C 5: 62,855,732 (GRCm39) L568* probably null Het
Arfgef2 G A 2: 166,727,773 (GRCm39) V1574M probably damaging Het
Arhgef12 C T 9: 42,893,296 (GRCm39) R969H probably damaging Het
Cacng1 A T 11: 107,595,195 (GRCm39) F127L probably benign Het
Cntnap5c T C 17: 58,076,593 (GRCm39) V10A probably benign Het
Crtac1 T G 19: 42,312,233 (GRCm39) D160A probably damaging Het
Csmd3 C T 15: 47,710,502 (GRCm39) probably null Het
Grin3a A G 4: 49,770,589 (GRCm39) F728L probably damaging Het
H3c1 T C 13: 23,945,921 (GRCm39) probably benign Het
Hecw1 C T 13: 14,515,325 (GRCm39) probably benign Het
Madd A G 2: 91,000,923 (GRCm39) V486A probably damaging Het
Map3k7 A G 4: 32,019,539 (GRCm39) D533G probably damaging Het
Matk A G 10: 81,094,128 (GRCm39) D20G probably benign Het
Mphosph10 A G 7: 64,039,503 (GRCm39) S156P probably benign Het
Mtif2 G A 11: 29,488,753 (GRCm39) E356K probably damaging Het
Ndufb10 T C 17: 24,943,158 (GRCm39) probably null Het
Nipal3 A T 4: 135,195,904 (GRCm39) L233Q possibly damaging Het
Or7e169 T C 9: 19,757,555 (GRCm39) Y120C probably damaging Het
Prss32 T A 17: 24,078,134 (GRCm39) C273* probably null Het
Prtg T C 9: 72,799,622 (GRCm39) S807P possibly damaging Het
Ric3 T G 7: 108,653,619 (GRCm39) E157D probably damaging Het
Ric3 T A 7: 108,653,620 (GRCm39) E157V probably damaging Het
Slc16a14 G A 1: 84,900,592 (GRCm39) T131I probably damaging Het
Slc1a2 A T 2: 102,570,159 (GRCm39) N137Y probably damaging Het
Slc25a27 T C 17: 43,974,980 (GRCm39) I94V probably benign Het
Slco1a1 G A 6: 141,892,354 (GRCm39) T4I probably benign Het
Slf1 A T 13: 77,192,066 (GRCm39) F923I possibly damaging Het
Taf7l2 A G 10: 115,949,341 (GRCm39) S62P possibly damaging Het
Ttll12 A C 15: 83,466,649 (GRCm39) V306G possibly damaging Het
Tulp2 G A 7: 45,165,692 (GRCm39) V97I possibly damaging Het
Vmn2r65 T G 7: 84,592,761 (GRCm39) Q482P probably damaging Het
Wdr24 T A 17: 26,045,595 (GRCm39) N443K probably benign Het
Other mutations in Iyd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Iyd APN 10 3,540,444 (GRCm38) missense probably benign
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 2013-04-17