Incidental Mutation 'IGL02476:Dio3'
ID294942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dio3
Ensembl Gene ENSMUSG00000075707
Gene Namedeiodinase, iodothyronine type III
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.300) question?
Stock #IGL02476
Quality Score
Status
Chromosome12
Chromosomal Location110279068-110281097 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110279482 bp
ZygosityHeterozygous
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]
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: 74,281,524 probably benign Het
Birc6 A G 17: 74,696,391 E4752G possibly damaging Het
Chd1 C T 17: 15,734,273 P468S probably damaging Het
Cnot3 A G 7: 3,658,068 D556G probably benign Het
Csnk1d A G 11: 120,972,512 Y201H probably damaging Het
Dhtkd1 A G 2: 5,930,906 S132P possibly damaging Het
Dhx58 G T 11: 100,702,264 Q206K probably benign Het
Dio1 C A 4: 107,292,377 V195F probably damaging Het
Extl3 T C 14: 65,077,244 K163R probably benign Het
Fat2 A T 11: 55,311,124 S375T probably damaging Het
Fbrs A G 7: 127,487,669 D73G probably damaging Het
Fnip1 A G 11: 54,499,567 probably benign Het
Frmpd4 A G X: 167,497,855 V343A probably damaging Het
Gcc1 T C 6: 28,420,469 D283G probably benign Het
Ghr T C 15: 3,320,046 D550G probably damaging Het
Glycam1 G A 15: 103,562,880 probably benign Het
Gpatch8 A G 11: 102,478,591 S1374P probably damaging Het
Grm1 A T 10: 10,689,453 M1037K probably benign Het
Gtpbp3 T C 8: 71,492,598 L438P probably damaging Het
Ifi205 G T 1: 174,015,061 N356K probably damaging Het
Ifi206 A G 1: 173,481,566 L288P probably benign Het
Ift57 T C 16: 49,763,889 V291A probably benign Het
Kif13a A C 13: 46,785,296 C166G probably damaging Het
Lypd6 A G 2: 50,190,728 T143A possibly damaging Het
Mtus2 G A 5: 148,077,938 A514T probably benign Het
Neu2 T C 1: 87,596,952 W220R probably damaging Het
Notch3 T C 17: 32,158,638 S155G possibly damaging Het
Nrxn2 A G 19: 6,454,985 E286G probably damaging Het
Onecut3 A G 10: 80,513,890 E406G probably benign Het
Oog2 T A 4: 144,195,229 D236E probably benign Het
Pck1 A G 2: 173,158,282 H502R probably benign Het
Pld1 A G 3: 28,048,039 Y313C probably damaging Het
Rhox3f A T X: 37,581,539 probably benign Het
Rpl34 A G 3: 130,726,964 probably benign Het
Sema4c T C 1: 36,555,950 K31E probably damaging Het
Sept11 T C 5: 93,148,584 probably null Het
Slc4a9 T A 18: 36,535,445 probably null Het
Snrnp200 T A 2: 127,217,488 S434T probably benign Het
Snx13 A T 12: 35,086,941 I134F probably damaging Het
Syt2 T C 1: 134,747,631 S407P probably benign Het
Tbc1d19 T C 5: 53,889,413 probably null Het
Tbc1d32 G T 10: 56,198,542 Q192K possibly damaging Het
Ubr4 T A 4: 139,421,249 C1681* probably null Het
Vmn1r43 T A 6: 89,870,061 I148F possibly damaging Het
Vwa8 T C 14: 78,925,341 V187A possibly damaging Het
Wdr78 T A 4: 103,087,348 I3L possibly damaging Het
Other mutations in Dio3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Dio3 APN 12 110279427 missense possibly damaging 0.65
IGL01921:Dio3 APN 12 110279355 missense possibly damaging 0.82
IGL02850:Dio3 APN 12 110279536 missense probably damaging 0.99
R4092:Dio3 UTSW 12 110279800 missense possibly damaging 0.46
R4609:Dio3 UTSW 12 110280010 missense probably damaging 1.00
R5550:Dio3 UTSW 12 110280126 missense probably benign 0.06
R6723:Dio3 UTSW 12 110279557 missense possibly damaging 0.68
Posted On2015-04-16