Incidental Mutation 'R6723:Dio3'
ID 529708
Institutional Source Beutler Lab
Gene Symbol Dio3
Ensembl Gene ENSMUSG00000075707
Gene Name deiodinase, iodothyronine type III
Synonyms
MMRRC Submission 044841-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R6723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 110245664-110247531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110245991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 109 (C109Y)
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 possibly damaging
Transcript: ENSMUST00000173014
AA Change: C109Y

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133920
Gene: ENSMUSG00000075707
AA Change: C109Y

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A G 12: 112,745,228 (GRCm39) S740P probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Bcl11a C A 11: 24,113,646 (GRCm39) P330T probably damaging Het
Cyp2d12 A T 15: 82,441,085 (GRCm39) I124F probably benign Het
Dhdds T C 4: 133,721,576 (GRCm39) T74A probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Efcab3 A T 11: 105,007,906 (GRCm39) T329S possibly damaging Het
Esp1 A T 17: 41,039,747 (GRCm39) I11L probably benign Het
Fam13b A T 18: 34,631,079 (GRCm39) H33Q possibly damaging Het
Fam13c G A 10: 70,390,355 (GRCm39) D539N probably damaging Het
Fgd5 A G 6: 91,965,011 (GRCm39) T257A probably benign Het
Gm5134 A G 10: 75,844,453 (GRCm39) D603G probably benign Het
Gtpbp2 T C 17: 46,479,202 (GRCm39) V588A probably benign Het
Ift140 A G 17: 25,252,090 (GRCm39) I312M probably benign Het
Inpp5j T C 11: 3,450,640 (GRCm39) N571S probably damaging Het
Iqgap1 T G 7: 80,373,570 (GRCm39) D1473A probably benign Het
Ivl T G 3: 92,478,694 (GRCm39) K457T unknown Het
Kdm3b T C 18: 34,926,058 (GRCm39) I66T probably damaging Het
Kif21a A T 15: 90,824,649 (GRCm39) M1430K probably damaging Het
Klhl25 T A 7: 75,515,739 (GRCm39) L215Q possibly damaging Het
Lim2 T A 7: 43,085,099 (GRCm39) M163K probably benign Het
Lrig1 T C 6: 94,603,386 (GRCm39) D254G probably damaging Het
Mff A G 1: 82,729,387 (GRCm39) I122V possibly damaging Het
Mrpl15 A C 1: 4,852,789 (GRCm39) probably null Het
Mylk A G 16: 34,750,258 (GRCm39) Y1199C possibly damaging Het
Nlrp3 G A 11: 59,456,018 (GRCm39) C938Y probably damaging Het
Notch1 T C 2: 26,368,118 (GRCm39) N623D probably damaging Het
Obscn T G 11: 58,945,824 (GRCm39) E4129A probably damaging Het
Or10a49 A T 7: 108,467,795 (GRCm39) C189S probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4d11 A G 19: 12,013,639 (GRCm39) S156P probably damaging Het
Or5k1 T C 16: 58,617,795 (GRCm39) K138R probably benign Het
Or6c65 A T 10: 129,604,284 (GRCm39) L306F probably benign Het
Parm1 C T 5: 91,770,856 (GRCm39) P291S probably damaging Het
Pcsk1 T A 13: 75,241,188 (GRCm39) probably null Het
Pgap6 C A 17: 26,339,610 (GRCm39) T616N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Piezo1 T G 8: 123,234,366 (GRCm39) Q93H probably benign Het
Pkd2l2 A T 18: 34,571,210 (GRCm39) Y575F probably damaging Het
Plekhn1 A C 4: 156,309,026 (GRCm39) F258C probably damaging Het
Pole C T 5: 110,471,482 (GRCm39) H1409Y probably benign Het
Rae1 T C 2: 172,854,041 (GRCm39) I273T probably damaging Het
Rag1 A G 2: 101,473,990 (GRCm39) V384A probably damaging Het
Rnaseh1 T C 12: 28,699,761 (GRCm39) L25P probably damaging Het
Serpinb12 A G 1: 106,876,888 (GRCm39) H68R probably benign Het
Sh3tc2 A T 18: 62,111,025 (GRCm39) I294F probably damaging Het
Sirpb1b A C 3: 15,613,858 (GRCm39) L75V possibly damaging Het
Slc12a6 A T 2: 112,168,287 (GRCm39) T277S probably damaging Het
Slc7a12 A T 3: 14,564,257 (GRCm39) E43D probably benign Het
Spata31d1c T A 13: 65,183,758 (GRCm39) D433E probably benign Het
Spata31h1 T C 10: 82,125,657 (GRCm39) Y2451C possibly damaging Het
Tbl2 A T 5: 135,188,130 (GRCm39) Y308F probably damaging Het
Tfec T C 6: 16,835,301 (GRCm39) Y159C probably damaging Het
Top1mt G T 15: 75,539,282 (GRCm39) T371K probably benign Het
Trim24 T C 6: 37,928,403 (GRCm39) V541A probably benign Het
Ttc16 T C 2: 32,658,049 (GRCm39) Y456C possibly damaging Het
Ttn G A 2: 76,600,441 (GRCm39) R17204* probably null Het
Ugt1a6b T C 1: 88,035,439 (GRCm39) V259A probably benign Het
Unc5a T C 13: 55,143,702 (GRCm39) W129R probably benign Het
Vmn1r63 T A 7: 5,805,948 (GRCm39) H228L probably damaging Het
Whamm G T 7: 81,245,868 (GRCm39) V775F probably damaging Het
Zfc3h1 T A 10: 115,256,638 (GRCm39) I1536N probably benign Het
Zfp1 T C 8: 112,396,971 (GRCm39) S317P probably damaging Het
Zfp58 T C 13: 67,642,192 (GRCm39) T52A probably 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
IGL02476:Dio3 APN 12 110,245,916 (GRCm39) missense probably benign 0.05
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
R7915:Dio3 UTSW 12 110,246,473 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTGACTATAAATTGAGCTCCCAGAG -3'
(R):5'- AAATTGAGCACCAACGGGC -3'

Sequencing Primer
(F):5'- TGCTGCTTCACTCGCTGAGG -3'
(R):5'- CGGGTCCCTTGTGCGTAGTC -3'
Posted On 2018-08-01