Incidental Mutation 'IGL01921:Dio3'
ID180098
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: 0.262) question?
Stock #IGL01921
Quality Score
Status
Chromosome12
Chromosomal Location110279068-110281097 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110279355 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 42 (T42S)
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: T42S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133920
Gene: ENSMUSG00000075707
AA Change: T42S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Dio3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Dio3 APN 12 110279427 missense possibly damaging 0.65
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
R7915:Dio3 UTSW 12 110280039 missense
Posted On2014-05-07