Incidental Mutation 'R0628:Iyd'
ID 57712
Institutional Source Beutler Lab
Gene Symbol Iyd
Ensembl Gene ENSMUSG00000019762
Gene Name iodotyrosine deiodinase
Synonyms 0610009A07Rik
MMRRC Submission 038817-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0628 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 3490274-3504880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3497127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 161 (M161L)
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: M161L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019896
Gene: ENSMUSG00000019762
AA Change: M161L

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
Meta Mutation Damage Score 0.1622 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A C 18: 65,440,367 (GRCm39) V809G possibly damaging Het
Bank1 T A 3: 135,772,151 (GRCm39) D493V probably damaging Het
Camk2d T C 3: 126,604,273 (GRCm39) probably benign Het
Ccdc17 T A 4: 116,455,745 (GRCm39) L292H probably damaging Het
Ccdc7b A G 8: 129,837,498 (GRCm39) probably benign Het
Cd34 C A 1: 194,641,525 (GRCm39) T317K probably damaging Het
Col6a5 C G 9: 105,789,649 (GRCm39) probably null Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Copa T C 1: 171,918,592 (GRCm39) probably benign Het
Coq7 T C 7: 118,128,867 (GRCm39) D56G probably damaging Het
Dlg4 C T 11: 69,922,610 (GRCm39) T201I probably damaging Het
Dnah7a T A 1: 53,536,264 (GRCm39) D2593V probably benign Het
Ect2l T A 10: 18,018,788 (GRCm39) E536V probably damaging Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eml2 T C 7: 18,935,479 (GRCm39) probably benign Het
Fam135b C T 15: 71,320,505 (GRCm39) probably benign Het
Fhip2b T C 14: 70,825,161 (GRCm39) T392A possibly damaging Het
Gart C T 16: 91,430,790 (GRCm39) R424H probably benign Het
Gramd1a A G 7: 30,842,049 (GRCm39) L80P probably damaging Het
Herc1 A G 9: 66,358,163 (GRCm39) K2415E probably benign Het
Ica1 C T 6: 8,644,256 (GRCm39) probably benign Het
Idi2l T A 13: 8,990,958 (GRCm39) probably benign Het
Kdm5a T C 6: 120,392,200 (GRCm39) L974S probably damaging Het
Kif1a T C 1: 92,947,605 (GRCm39) D1619G probably damaging Het
Lypd8 C T 11: 58,275,499 (GRCm39) T78M probably damaging Het
Marchf10 T A 11: 105,280,986 (GRCm39) H433L probably benign Het
Mbp A G 18: 82,572,742 (GRCm39) Y13C probably damaging Het
Mertk A T 2: 128,580,233 (GRCm39) N229I probably damaging Het
Msrb2 T A 2: 19,398,091 (GRCm39) D116E probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Otoa G A 7: 120,744,873 (GRCm39) probably benign Het
Pclo A G 5: 14,719,552 (GRCm39) T1230A unknown Het
Polrmt T C 10: 79,574,979 (GRCm39) T851A possibly damaging Het
Prpf6 C T 2: 181,277,841 (GRCm39) P401L probably damaging Het
Rasgrp4 A G 7: 28,839,635 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,272,064 (GRCm39) probably benign Het
Reps1 A G 10: 17,996,841 (GRCm39) T588A probably damaging Het
Rtel1 A C 2: 180,993,674 (GRCm39) S782R probably benign Het
Sacm1l A G 9: 123,378,060 (GRCm39) probably benign Het
Skic3 G C 13: 76,298,848 (GRCm39) V1185L possibly damaging Het
Skint5 A T 4: 113,588,266 (GRCm39) L728* probably null Het
Slc9b2 T A 3: 135,029,536 (GRCm39) probably benign Het
Snapc3 A T 4: 83,368,397 (GRCm39) H298L probably benign Het
Tex9 A T 9: 72,399,233 (GRCm39) M1K probably null Het
Trappc13 C T 13: 104,291,424 (GRCm39) probably benign Het
Usp3 C T 9: 66,425,726 (GRCm39) R467H probably benign Het
Vmn2r11 T A 5: 109,195,597 (GRCm39) L576F possibly damaging Het
Wnk4 T C 11: 101,165,849 (GRCm39) F792S probably benign Het
Zfp1007 T C 5: 109,826,442 (GRCm39) probably null Het
Zfp280d T C 9: 72,269,230 (GRCm39) V764A probably benign Het
Zfp69 G A 4: 120,806,622 (GRCm39) Q4* probably null Het
Zfp692 T G 11: 58,200,449 (GRCm39) L206R probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zic4 T A 9: 91,266,170 (GRCm39) Y264* probably null Het
Zic4 T A 9: 91,266,172 (GRCm39) M272K probably benign Het
Zscan4b A T 7: 10,635,390 (GRCm39) N284K 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
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
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
Predicted Primers PCR Primer
(F):5'- TAATCCCGACCCTGTGAGAGTGTG -3'
(R):5'- AACCCCAATTATTTGGGTCAGAGCC -3'

Sequencing Primer
(F):5'- tctcctcctctttctcctcc -3'
(R):5'- TGTATCCATGCACTGAAATACGAC -3'
Posted On 2013-07-11