Incidental Mutation 'R9621:Dio1'
ID 724779
Institutional Source Beutler Lab
Gene Symbol Dio1
Ensembl Gene ENSMUSG00000034785
Gene Name deiodinase, iodothyronine, type I
Synonyms D1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R9621 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 107148662-107164365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107149558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 248 (C248Y)
Ref Sequence ENSEMBL: ENSMUSP00000081007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082426] [ENSMUST00000106748] [ENSMUST00000126291] [ENSMUST00000129138] [ENSMUST00000134366] [ENSMUST00000147709] [ENSMUST00000150974]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000082426
AA Change: C248Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081007
Gene: ENSMUSG00000034785
AA Change: C248Y

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 248 8.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106748
SMART Domains Protein: ENSMUSP00000102359
Gene: ENSMUSG00000034785

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 113 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126291
SMART Domains Protein: ENSMUSP00000114807
Gene: ENSMUSG00000034785

DomainStartEndE-ValueType
Pfam:T4_deiodinase 1 62 8.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129138
AA Change: C200Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785
AA Change: C200Y

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 113 7e-24 PFAM
Pfam:T4_deiodinase 111 200 5.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134366
SMART Domains Protein: ENSMUSP00000119199
Gene: ENSMUSG00000034785

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 79 9.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147709
SMART Domains Protein: ENSMUSP00000121450
Gene: ENSMUSG00000034785

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 79 9.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150974
SMART Domains Protein: ENSMUSP00000117751
Gene: ENSMUSG00000034785

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 125 2.5e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the activation, as well as the inactivation of thyroid hormone by outer and inner ring deiodination, respectively. The activation reaction involves the conversion of the prohormone thyroxine (3,5,3',5'-tetraiodothyronine, T4), secreted by the thyroid gland, to the bioactive thyroid hormone (3,5,3'-triiodothyronine, T3) by 5'-deiodination. This protein is expressed predominantly in the liver and kidney and provides most of the circulating T3, which is essential for growth, differentiation and basal metabolism in vertebrates. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) 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, Apr 2016]
PHENOTYPE: Mice homozygous for a disruption in this gene display elevated thyroxine (T4) and reverse triiodothyronine (rT3) levels and changes in the metabolism and excretion of iodothyronines. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,092,918 (GRCm39) T289A probably benign Het
Adnp A T 2: 168,024,663 (GRCm39) S877R probably benign Het
Akap13 T A 7: 75,386,090 (GRCm39) H555Q probably benign Het
Alg6 T A 4: 99,615,131 (GRCm39) Y38* probably null Het
Amtn C A 5: 88,528,205 (GRCm39) Q93K probably benign Het
Ap2b1 T C 11: 83,293,424 (GRCm39) V937A probably damaging Het
Arih1 ATCGTCCGGCTCGTCCTCGTCGTCGTCC ATCGTCC 9: 59,393,520 (GRCm39) probably benign Het
Atosa A G 9: 74,917,512 (GRCm39) N711D possibly damaging Het
Bhmt A G 13: 93,758,079 (GRCm39) S211P possibly damaging Het
Bltp3a T A 17: 28,105,753 (GRCm39) S760T probably benign Het
Bmp1 T C 14: 70,715,306 (GRCm39) Y943C probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cbfb A C 8: 105,905,243 (GRCm39) T62P probably damaging Het
Ccdc154 T C 17: 25,386,355 (GRCm39) F249L probably damaging Het
Cdh26 T A 2: 178,111,983 (GRCm39) F514L probably damaging Het
Cdhr2 A G 13: 54,866,350 (GRCm39) E352G Het
Cep295nl G A 11: 118,224,766 (GRCm39) P26L possibly damaging Het
Cfdp1 A G 8: 112,571,807 (GRCm39) V34A probably damaging Het
Cntnap2 A T 6: 46,965,726 (GRCm39) I846F probably damaging Het
Cntrl A G 2: 35,050,278 (GRCm39) K1464E probably damaging Het
Crybg3 T C 16: 59,326,613 (GRCm39) D1039G possibly damaging Het
Csmd3 A T 15: 47,713,116 (GRCm39) S778R Het
Daam2 C T 17: 49,780,332 (GRCm39) C729Y probably damaging Het
Ddx18 T C 1: 121,489,132 (GRCm39) H305R probably damaging Het
Dnah1 C A 14: 31,016,772 (GRCm39) A1582S probably damaging Het
Eef1a1 A T 9: 78,386,632 (GRCm39) D319E probably benign Het
Fam171b G A 2: 83,643,109 (GRCm39) R6H probably damaging Het
Flnb G A 14: 7,926,421 (GRCm38) G1822R probably damaging Het
Gabrb1 G A 5: 72,279,363 (GRCm39) V303I possibly damaging Het
Gli3 T G 13: 15,901,253 (GRCm39) S1547A probably benign Het
Gm4884 A T 7: 40,693,111 (GRCm39) N360I possibly damaging Het
Ift70b T C 2: 75,768,144 (GRCm39) Y203C probably damaging Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Ino80 C G 2: 119,280,496 (GRCm39) K289N probably damaging Het
Itpr1 G A 6: 108,393,870 (GRCm39) E1638K probably damaging Het
Jakmip1 A T 5: 37,274,812 (GRCm39) I45F unknown Het
Kif1a G A 1: 92,983,445 (GRCm39) P684L probably benign Het
Kpnb1 A T 11: 97,058,460 (GRCm39) S610T probably benign Het
Man1a2 A G 3: 100,591,961 (GRCm39) V73A probably benign Het
Mbtps1 A G 8: 120,235,621 (GRCm39) V1019A possibly damaging Het
Muc21 T A 17: 35,932,720 (GRCm39) T489S unknown Het
Nup210 G C 6: 90,994,375 (GRCm39) N1774K probably benign Het
Or10p21 G T 10: 128,847,759 (GRCm39) V202F probably benign Het
Pik3c2b T C 1: 132,999,345 (GRCm39) S398P probably damaging Het
Pmpca A G 2: 26,279,988 (GRCm39) T37A probably benign Het
Ppfia1 A G 7: 144,052,516 (GRCm39) S840P probably damaging Het
Prkcq A T 2: 11,261,014 (GRCm39) K355N probably benign Het
Prorp C A 12: 55,429,042 (GRCm39) H538N probably benign Het
Ptprg A G 14: 12,237,809 (GRCm38) K1422R probably benign Het
Ptprq T C 10: 107,378,523 (GRCm39) E2006G probably damaging Het
Qsox1 TG T 1: 155,671,135 (GRCm39) probably null Het
Rcor2 A T 19: 7,251,591 (GRCm39) T412S probably benign Het
Rnf224 A T 2: 25,126,200 (GRCm39) M51K probably benign Het
Robo4 A G 9: 37,317,509 (GRCm39) D521G probably damaging Het
Sf3b4 T A 3: 96,084,115 (GRCm39) S360T unknown Het
Sgo2b T C 8: 64,380,651 (GRCm39) D727G probably damaging Het
Smpd2 C A 10: 41,364,283 (GRCm39) V172L probably benign Het
Spring1 C T 5: 118,393,880 (GRCm39) T86I possibly damaging Het
Syne1 C T 10: 5,273,887 (GRCm39) A1966T probably benign Het
Syt13 G A 2: 92,745,575 (GRCm39) G15D possibly damaging Het
Taf3 A T 2: 9,923,070 (GRCm39) L18Q unknown Het
Tcam1 T A 11: 106,176,259 (GRCm39) N328K probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tet2 A T 3: 133,193,767 (GRCm39) Y222* probably null Het
Timm29 A T 9: 21,504,218 (GRCm39) probably benign Het
Tmc6 T C 11: 117,669,995 (GRCm39) D17G probably benign Het
Tmem30a T A 9: 79,687,926 (GRCm39) D81V probably benign Het
Tnnt1 T C 7: 4,511,501 (GRCm39) I195V probably benign Het
Ttll5 T A 12: 85,938,896 (GRCm39) V398E possibly damaging Het
Ttn T C 2: 76,748,441 (GRCm39) T4203A possibly damaging Het
Ubc A G 5: 125,464,511 (GRCm39) I272T probably damaging Het
Unc45a A G 7: 79,983,785 (GRCm39) L337P probably damaging Het
Vmn1r229 T C 17: 21,035,315 (GRCm39) F187L probably benign Het
Wrn A T 8: 33,814,301 (GRCm39) M381K probably benign Het
Zdbf2 A G 1: 63,342,635 (GRCm39) N338S possibly damaging Het
Zfp541 A G 7: 15,805,892 (GRCm39) E9G possibly damaging Het
Zrsr2-ps1 G A 11: 22,923,418 (GRCm39) R64Q possibly damaging Het
Zswim8 T A 14: 20,772,231 (GRCm39) S1614T probably benign Het
Other mutations in Dio1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02332:Dio1 APN 4 107,150,978 (GRCm39) missense probably damaging 1.00
IGL02476:Dio1 APN 4 107,149,574 (GRCm39) missense probably damaging 1.00
R1944:Dio1 UTSW 4 107,163,977 (GRCm39) critical splice donor site probably null
R5400:Dio1 UTSW 4 107,164,185 (GRCm39) missense probably damaging 0.97
R5433:Dio1 UTSW 4 107,163,977 (GRCm39) critical splice donor site probably benign
R6810:Dio1 UTSW 4 107,154,922 (GRCm39) missense probably damaging 1.00
R6978:Dio1 UTSW 4 107,164,030 (GRCm39) missense probably benign 0.20
R7485:Dio1 UTSW 4 107,154,874 (GRCm39) missense probably benign 0.04
R7579:Dio1 UTSW 4 107,149,583 (GRCm39) missense possibly damaging 0.91
R8941:Dio1 UTSW 4 107,164,147 (GRCm39) missense probably benign 0.01
R9255:Dio1 UTSW 4 107,164,102 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTGCTAACAGCTCAGCATTGC -3'
(R):5'- CCTCCTCAAGGCTGTAACTATC -3'

Sequencing Primer
(F):5'- AACAGCTCAGCATTGCTTTATTTCTG -3'
(R):5'- ATCCTTTGTTTACAACTCCCAAGTAG -3'
Posted On 2022-09-12