Incidental Mutation 'IGL02476:Dio3'
ID 294942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dio3
Ensembl Gene ENSMUSG00000075707
Gene Name deiodinase, iodothyronine type III
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.290) question?
Stock # IGL02476
Quality Score
Status
Chromosome 12
Chromosomal Location 110245664-110247531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110245916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 84 (V84A)
Ref Sequence ENSEMBL: ENSMUSP00000133920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097228] [ENSMUST00000173014]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000097228
SMART Domains Protein: ENSMUSP00000094864
Gene: ENSMUSG00000075707

DomainStartEndE-ValueType
Pfam:T4_deiodinase 1 120 1.5e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116706
Predicted Effect probably benign
Transcript: ENSMUST00000173014
AA Change: V84A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133920
Gene: ENSMUSG00000075707
AA Change: V84A

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
Pfam:T4_deiodinase 38 293 8.5e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222534
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This is an intronless, imprinted gene that is preferentially expressed from the paternal allele in the mouse fetus. The encoded protein belongs to the iodothyronine deiodinase family, and catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5' triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. It is highly expressed in placenta, fetal and neonatal tissues, and thought to prevent premature exposure of developing fetal tissues to adult levels of thyroid hormones. It thus plays a critical role in mammalian development by regulating circulating fetal thyroid hormone concentration. Knockout mice lacking this gene exhibit severe abnormalities related to development and reproduction. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a null allele show partial embryonic or perinatal mortality, growth retardation, reduced fertility, and severe anomalies in thyroid status and physiology, including reduced T3 clearance and neonatal thyrotoxicosis followed by central hypothyroidism that persists throughout life. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,320,683 (GRCm39) probably benign Het
Birc6 A G 17: 75,003,386 (GRCm39) E4752G possibly damaging Het
Chd1 C T 17: 15,954,535 (GRCm39) P468S probably damaging Het
Cnot3 A G 7: 3,661,067 (GRCm39) D556G probably benign Het
Csnk1d A G 11: 120,863,338 (GRCm39) Y201H probably damaging Het
Dhtkd1 A G 2: 5,935,717 (GRCm39) S132P possibly damaging Het
Dhx58 G T 11: 100,593,090 (GRCm39) Q206K probably benign Het
Dio1 C A 4: 107,149,574 (GRCm39) V195F probably damaging Het
Dnai4 T A 4: 102,944,545 (GRCm39) I3L possibly damaging Het
Extl3 T C 14: 65,314,693 (GRCm39) K163R probably benign Het
Fat2 A T 11: 55,201,950 (GRCm39) S375T probably damaging Het
Fbrs A G 7: 127,086,841 (GRCm39) D73G probably damaging Het
Fnip1 A G 11: 54,390,393 (GRCm39) probably benign Het
Frmpd4 A G X: 166,280,851 (GRCm39) V343A probably damaging Het
Gcc1 T C 6: 28,420,468 (GRCm39) D283G probably benign Het
Ghr T C 15: 3,349,528 (GRCm39) D550G probably damaging Het
Glycam1 G A 15: 103,471,307 (GRCm39) probably benign Het
Gpatch8 A G 11: 102,369,417 (GRCm39) S1374P probably damaging Het
Grm1 A T 10: 10,565,197 (GRCm39) M1037K probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Ifi205 G T 1: 173,842,627 (GRCm39) N356K probably damaging Het
Ifi206 A G 1: 173,309,132 (GRCm39) L288P probably benign Het
Ift57 T C 16: 49,584,252 (GRCm39) V291A probably benign Het
Kif13a A C 13: 46,938,772 (GRCm39) C166G probably damaging Het
Lypd6 A G 2: 50,080,740 (GRCm39) T143A possibly damaging Het
Mtus2 G A 5: 148,014,748 (GRCm39) A514T probably benign Het
Neu2 T C 1: 87,524,674 (GRCm39) W220R probably damaging Het
Notch3 T C 17: 32,377,612 (GRCm39) S155G possibly damaging Het
Nrxn2 A G 19: 6,505,015 (GRCm39) E286G probably damaging Het
Onecut3 A G 10: 80,349,724 (GRCm39) E406G probably benign Het
Oog2 T A 4: 143,921,799 (GRCm39) D236E probably benign Het
Pck1 A G 2: 173,000,075 (GRCm39) H502R probably benign Het
Pld1 A G 3: 28,102,188 (GRCm39) Y313C probably damaging Het
Rhox3f A T X: 36,763,192 (GRCm39) probably benign Het
Rpl34 A G 3: 130,520,613 (GRCm39) probably benign Het
Sema4c T C 1: 36,595,031 (GRCm39) K31E probably damaging Het
Septin11 T C 5: 93,296,443 (GRCm39) probably null Het
Slc4a9 T A 18: 36,668,498 (GRCm39) probably null Het
Snrnp200 T A 2: 127,059,408 (GRCm39) S434T probably benign Het
Snx13 A T 12: 35,136,940 (GRCm39) I134F probably damaging Het
Syt2 T C 1: 134,675,369 (GRCm39) S407P probably benign Het
Tbc1d19 T C 5: 54,046,755 (GRCm39) probably null Het
Tbc1d32 G T 10: 56,074,638 (GRCm39) Q192K possibly damaging Het
Ubr4 T A 4: 139,148,560 (GRCm39) C1681* probably null Het
Vmn1r43 T A 6: 89,847,043 (GRCm39) I148F possibly damaging Het
Vwa8 T C 14: 79,162,781 (GRCm39) V187A possibly damaging Het
Other mutations in Dio3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Dio3 APN 12 110,245,861 (GRCm39) missense possibly damaging 0.65
IGL01921:Dio3 APN 12 110,245,789 (GRCm39) missense possibly damaging 0.82
IGL02850:Dio3 APN 12 110,245,970 (GRCm39) missense probably damaging 0.99
R4092:Dio3 UTSW 12 110,246,234 (GRCm39) missense possibly damaging 0.46
R4609:Dio3 UTSW 12 110,246,444 (GRCm39) missense probably damaging 1.00
R5550:Dio3 UTSW 12 110,246,560 (GRCm39) missense probably benign 0.06
R6723:Dio3 UTSW 12 110,245,991 (GRCm39) missense possibly damaging 0.68
R7915:Dio3 UTSW 12 110,246,473 (GRCm39) missense
Posted On 2015-04-16