Incidental Mutation 'IGL02332:Dio1'
ID288716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dio1
Ensembl Gene ENSMUSG00000034785
Gene Namedeiodinase, iodothyronine, type I
SynonymsD1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL02332
Quality Score
Status
Chromosome4
Chromosomal Location107291465-107307169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107293781 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 169 (Y169N)
Ref Sequence ENSEMBL: ENSMUSP00000118335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082426] [ENSMUST00000106748] [ENSMUST00000126291] [ENSMUST00000129138] [ENSMUST00000134366] [ENSMUST00000147709] [ENSMUST00000150974]
Predicted Effect probably damaging
Transcript: ENSMUST00000082426
AA Change: Y217N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081007
Gene: ENSMUSG00000034785
AA Change: Y217N

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 damaging
Transcript: ENSMUST00000126291
AA Change: Y32N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114807
Gene: ENSMUSG00000034785
AA Change: Y32N

DomainStartEndE-ValueType
Pfam:T4_deiodinase 1 62 8.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129138
AA Change: Y169N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785
AA Change: Y169N

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in Dio1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Dio1 APN 4 107292377 missense probably damaging 1.00
R1944:Dio1 UTSW 4 107306780 critical splice donor site probably null
R5400:Dio1 UTSW 4 107306988 missense probably damaging 0.97
R5433:Dio1 UTSW 4 107306780 critical splice donor site probably benign
R6810:Dio1 UTSW 4 107297725 missense probably damaging 1.00
R6978:Dio1 UTSW 4 107306833 missense probably benign 0.20
R7485:Dio1 UTSW 4 107297677 missense probably benign 0.04
R7579:Dio1 UTSW 4 107292386 missense possibly damaging 0.91
Posted On2015-04-16