Incidental Mutation 'R6978:Dio1'
ID 542556
Institutional Source Beutler Lab
Gene Symbol Dio1
Ensembl Gene ENSMUSG00000034785
Gene Name deiodinase, iodothyronine, type I
Synonyms D1
MMRRC Submission 045086-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # R6978 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107148662-107164365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107164030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 96 (T96A)
Ref Sequence ENSEMBL: ENSMUSP00000118335 (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: T96A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081007
Gene: ENSMUSG00000034785
AA Change: T96A

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 248 8.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106748
AA Change: T96A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102359
Gene: ENSMUSG00000034785
AA Change: T96A

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: T96A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785
AA Change: T96A

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
AA Change: T96A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117751
Gene: ENSMUSG00000034785
AA Change: T96A

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 125 2.5e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh C T 16: 38,266,171 (GRCm39) G324S probably damaging Het
Amfr T C 8: 94,727,015 (GRCm39) E140G probably damaging Het
Anapc1 G T 2: 128,511,820 (GRCm39) Q458K probably benign Het
Ap1g1 T C 8: 110,554,968 (GRCm39) probably null Het
Arhgap45 G T 10: 79,857,682 (GRCm39) V211F probably benign Het
Baz2b T C 2: 59,738,059 (GRCm39) E1750G possibly damaging Het
Cmpk2 A T 12: 26,527,018 (GRCm39) T336S probably damaging Het
Col6a3 C T 1: 90,735,192 (GRCm39) probably null Het
Cyp2c29 T C 19: 39,310,107 (GRCm39) L272P probably damaging Het
Cyp3a13 A T 5: 137,903,801 (GRCm39) S286T probably benign Het
Cyp4f18 T G 8: 72,756,340 (GRCm39) S79R probably benign Het
Dnah7a T C 1: 53,701,526 (GRCm39) I210V probably null Het
Epha4 A G 1: 77,354,220 (GRCm39) Y841H probably damaging Het
Gm12695 T C 4: 96,657,959 (GRCm39) D70G possibly damaging Het
Gtf3c1 G T 7: 125,244,706 (GRCm39) T1680K possibly damaging Het
Hnrnpul2 T C 19: 8,801,640 (GRCm39) V314A probably damaging Het
Irx3 G T 8: 92,527,356 (GRCm39) P116Q probably damaging Het
Lrp4 C T 2: 91,322,343 (GRCm39) R1060C probably damaging Het
Mark3 G A 12: 111,593,582 (GRCm39) V205I probably benign Het
Mchr1 T C 15: 81,121,997 (GRCm39) L249P possibly damaging Het
Med26 T C 8: 73,250,427 (GRCm39) N224S possibly damaging Het
Megf9 C T 4: 70,351,766 (GRCm39) V452I probably benign Het
Mki67 T C 7: 135,303,691 (GRCm39) R726G probably benign Het
Mst1r T A 9: 107,789,793 (GRCm39) L583Q probably benign Het
Mybpc1 A G 10: 88,358,886 (GRCm39) C1102R probably damaging Het
Nr6a1 T C 2: 38,762,631 (GRCm39) T55A probably benign Het
Nup210l G A 3: 90,061,873 (GRCm39) R684Q possibly damaging Het
Or13a24 A C 7: 140,154,200 (GRCm39) I45L probably damaging Het
Or4f7 T A 2: 111,644,155 (GRCm39) L305F probably benign Het
Or6x1 C T 9: 40,099,085 (GRCm39) R225W probably damaging Het
Pgbd1 A G 13: 21,607,432 (GRCm39) L254P probably damaging Het
Pou6f2 A G 13: 18,347,063 (GRCm39) F10L probably damaging Het
Ppfia3 T A 7: 44,996,272 (GRCm39) T726S probably benign Het
Rab21 T A 10: 115,134,766 (GRCm39) M118L possibly damaging Het
Rbm6 T C 9: 107,729,774 (GRCm39) probably null Het
Rmc1 T C 18: 12,318,804 (GRCm39) Y430H probably benign Het
Rpp38 A G 2: 3,330,758 (GRCm39) L48P probably damaging Het
Sart3 A T 5: 113,883,807 (GRCm39) I735N probably damaging Het
Slc44a1 T A 4: 53,544,671 (GRCm39) Y461N probably damaging Het
Smok2b A T 17: 13,455,295 (GRCm39) *485L probably null Het
Speer4a2 C A 5: 26,291,454 (GRCm39) E117D probably damaging Het
Spink8 T C 9: 109,649,725 (GRCm39) V69A probably benign Het
Spred2 G A 11: 19,948,254 (GRCm39) R83Q possibly damaging Het
Tmc1 T C 19: 20,781,999 (GRCm39) N573S probably damaging Het
Tmem275 C T 4: 115,755,560 (GRCm39) Q120* probably null Het
Tox4 G T 14: 52,524,694 (GRCm39) probably null Het
Unc13c T C 9: 73,839,259 (GRCm39) S531G probably benign Het
Vmn2r56 C T 7: 12,449,333 (GRCm39) V302I probably benign Het
Ypel1 C T 16: 16,902,438 (GRCm39) A110V probably benign Het
Zfp395 G A 14: 65,623,882 (GRCm39) R117H probably benign Het
Zic5 T C 14: 122,696,960 (GRCm39) T552A unknown Het
Zic5 CGACGAGTAG C 14: 122,696,967 (GRCm39) 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
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
R9621:Dio1 UTSW 4 107,149,558 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATATGAACCCTGGGAAGATACC -3'
(R):5'- AACAGAGCATCCTGGCCATG -3'

Sequencing Primer
(F):5'- GAGAGTCCCACCACTGAGCAG -3'
(R):5'- GCCATGGGCCAGAAGAC -3'
Posted On 2018-11-28