Incidental Mutation 'IGL01567:Dio3'
ID91013
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: 0.287) question?
Stock #IGL01567
Quality Score
Status
Chromosome12
Chromosomal Location110279068-110281097 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110279427 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 66 (C66S)
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 possibly damaging
Transcript: ENSMUST00000173014
AA Change: C66S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133920
Gene: ENSMUSG00000075707
AA Change: C66S

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign Het
Other mutations in Dio3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Dio3 APN 12 110279355 missense possibly damaging 0.82
IGL02476:Dio3 APN 12 110279482 missense probably benign 0.05
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 On2013-12-09