Incidental Mutation 'R9255:Dio1'
ID 701791
Institutional Source Beutler Lab
Gene Symbol Dio1
Ensembl Gene ENSMUSG00000034785
Gene Name deiodinase, iodothyronine, type I
Synonyms D1
MMRRC Submission 068961-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R9255 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 107148662-107164365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107164102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 72 (W72R)
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 damaging
Transcript: ENSMUST00000082426
AA Change: W72R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081007
Gene: ENSMUSG00000034785
AA Change: W72R

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 248 8.8e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106748
AA Change: W72R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102359
Gene: ENSMUSG00000034785
AA Change: W72R

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 damaging
Transcript: ENSMUST00000129138
AA Change: W72R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785
AA Change: W72R

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 113 7e-24 PFAM
Pfam:T4_deiodinase 111 200 5.3e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134366
AA Change: W72R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119199
Gene: ENSMUSG00000034785
AA Change: W72R

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 79 9.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147709
AA Change: W72R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121450
Gene: ENSMUSG00000034785
AA Change: W72R

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 79 9.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150974
AA Change: W72R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117751
Gene: ENSMUSG00000034785
AA Change: W72R

DomainStartEndE-ValueType
Pfam:T4_deiodinase 8 125 2.5e-34 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,626,795 (GRCm39) Y549C probably damaging Het
Abca13 A C 11: 9,278,213 (GRCm39) N3131T probably damaging Het
Acap3 T C 4: 155,990,145 (GRCm39) V775A probably benign Het
Actn3 T A 19: 4,921,820 (GRCm39) I149F probably damaging Het
Adcy2 A T 13: 69,036,199 (GRCm39) M154K possibly damaging Het
Agbl1 A T 7: 76,416,150 (GRCm39) M976L unknown Het
Agbl3 T A 6: 34,789,840 (GRCm39) M531K probably damaging Het
Armc8 A C 9: 99,379,441 (GRCm39) M495R possibly damaging Het
Astn2 T A 4: 65,563,085 (GRCm39) K899* probably null Het
Atp10b T A 11: 43,107,148 (GRCm39) H727Q probably damaging Het
Bach1 A G 16: 87,519,401 (GRCm39) I564V possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc136 T A 6: 29,409,237 (GRCm39) H183Q probably benign Het
Celf3 T C 3: 94,392,594 (GRCm39) F98L probably benign Het
Chrd G A 16: 20,558,801 (GRCm39) C845Y probably damaging Het
Clec1a T G 6: 129,409,208 (GRCm39) K139N probably benign Het
Cntln T G 4: 85,019,103 (GRCm39) N130K possibly damaging Het
Cog1 A T 11: 113,547,019 (GRCm39) T538S probably benign Het
Cog8 A G 8: 107,779,383 (GRCm39) I298T probably damaging Het
Elapor1 T C 3: 108,376,864 (GRCm39) R453G probably damaging Het
Exph5 T A 9: 53,284,609 (GRCm39) N563K possibly damaging Het
Foxn1 C A 11: 78,252,399 (GRCm39) E330* probably null Het
Fzd7 G T 1: 59,522,495 (GRCm39) R126L possibly damaging Het
Gmnn A G 13: 24,937,351 (GRCm39) Y147H probably benign Het
Gpa33 A G 1: 165,980,186 (GRCm39) N83S probably benign Het
Hdac4 A G 1: 91,889,173 (GRCm39) probably null Het
Hydin A G 8: 111,261,972 (GRCm39) D2691G probably benign Het
Ifi203 A T 1: 173,756,787 (GRCm39) I332N unknown Het
Inpp1 A G 1: 52,829,306 (GRCm39) S238P probably benign Het
Jmy A G 13: 93,589,894 (GRCm39) probably null Het
Kcnab3 C T 11: 69,222,337 (GRCm39) Q327* probably null Het
Kctd1 A G 18: 15,194,853 (GRCm39) V590A probably benign Het
Lrrc8e A T 8: 4,284,504 (GRCm39) H243L probably damaging Het
Lsr A G 7: 30,657,670 (GRCm39) L498S probably benign Het
Mapkbp1 A G 2: 119,843,556 (GRCm39) D268G probably damaging Het
Mfn1 T C 3: 32,598,287 (GRCm39) V203A possibly damaging Het
Micu1 T A 10: 59,604,051 (GRCm39) I212N probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Or11i1 A G 3: 106,729,737 (GRCm39) I46T probably benign Het
Or12j4 T C 7: 140,046,423 (GRCm39) F103S probably damaging Het
Or8g30 T C 9: 39,230,487 (GRCm39) Y141C probably benign Het
Pabpc6 T C 17: 9,886,769 (GRCm39) E594G probably damaging Het
Pald1 A T 10: 61,176,989 (GRCm39) probably null Het
Pdpk1 A G 17: 24,325,938 (GRCm39) I113T possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pi4kb T C 3: 94,906,219 (GRCm39) S589P probably damaging Het
Pik3ca G A 3: 32,496,981 (GRCm39) probably null Het
Plekhg4 A T 8: 106,103,271 (GRCm39) M315L probably benign Het
Proz G A 8: 13,123,472 (GRCm39) V248M possibly damaging Het
Prss1 T C 6: 41,438,183 (GRCm39) Y37H probably damaging Het
R3hdml T A 2: 163,337,612 (GRCm39) W89R probably damaging Het
Ranbp3l A G 15: 9,057,293 (GRCm39) T319A probably benign Het
Scn4a C T 11: 106,215,054 (GRCm39) A1246T probably damaging Het
Sdr42e1 T A 8: 118,389,999 (GRCm39) Y214F probably benign Het
Slc10a2 C T 8: 5,148,565 (GRCm39) V127I probably benign Het
Slc16a1 T A 3: 104,560,148 (GRCm39) M151K possibly damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Ssbp2 T A 13: 91,818,525 (GRCm39) M171K possibly damaging Het
Styk1 A G 6: 131,286,946 (GRCm39) V183A probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tspan18 T G 2: 93,040,200 (GRCm39) D185A probably benign Het
Tti2 T A 8: 31,645,570 (GRCm39) F320Y probably damaging Het
Ttn T C 2: 76,608,621 (GRCm39) I17798M probably damaging Het
Ube2j1 C A 4: 33,036,759 (GRCm39) H28N probably benign Het
Vmn1r195 A C 13: 22,463,342 (GRCm39) I271L possibly damaging Het
Vmn2r81 A C 10: 79,103,166 (GRCm39) T120P possibly damaging Het
Vmn2r-ps158 A T 7: 42,673,965 (GRCm39) Y348F possibly damaging Het
Wtip A G 7: 33,824,908 (GRCm39) probably null Het
Zc3h12d C T 10: 7,729,022 (GRCm39) H129Y probably damaging Het
Zfp600 T G 4: 146,131,673 (GRCm39) S114A possibly damaging 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
R9621:Dio1 UTSW 4 107,149,558 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATGATAGGAAGCCTGGTGC -3'
(R):5'- TTCAGTCTGCAGGCTCAGAG -3'

Sequencing Primer
(F):5'- GCCTGGTGCTTTCCATCCTAC -3'
(R):5'- CTGAAGCGGCTTGTGATATTCC -3'
Posted On 2022-03-25