Mutagenetix > Incidental Mutation

Incidental Mutation 'R5433:Dio1'

428144

Institutional Source

Beutler Lab

Gene Symbol

Dio1

Ensembl Gene

ENSMUSG00000034785

Gene Name

deiodinase, iodothyronine, type I

Synonyms

MMRRC Submission

042998-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107148662-107164365 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to T at 107163977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082426] [ENSMUST00000106748] [ENSMUST00000106748] [ENSMUST00000126291] [ENSMUST00000126291] [ENSMUST00000129138] [ENSMUST00000129138] [ENSMUST00000134366] [ENSMUST00000147709] [ENSMUST00000150974]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000082426

SMART Domains

Protein: ENSMUSP00000081007
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	248	8.8e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106748

SMART Domains

Protein: ENSMUSP00000102359
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	113	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106748

SMART Domains

Protein: ENSMUSP00000102359
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	113	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126291

SMART Domains

Protein: ENSMUSP00000114807
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	1	62	8.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126291

SMART Domains

Protein: ENSMUSP00000114807
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	1	62	8.3e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129138

SMART Domains

Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	113	7e-24	PFAM
Pfam:T4_deiodinase	111	200	5.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129138

SMART Domains

Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	79	9.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145332

Predicted Effect

probably benign
Transcript: ENSMUST00000147709

SMART Domains

Protein: ENSMUSP00000121450
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	79	9.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150974

SMART Domains

Protein: ENSMUSP00000117751
Gene: ENSMUSG00000034785

Domain	Start	End	E-Value	Type
Pfam:T4_deiodinase	8	125	2.5e-34	PFAM

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,657 (GRCm39)	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,119,039 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,592,078 (GRCm39)	M589L	probably benign	Het
Adamts8	A	C	9: 30,873,012 (GRCm39)	H739P	probably benign	Het
Atp8b2	T	C	3: 89,860,216 (GRCm39)		probably benign	Het
BC030500	A	G	8: 59,366,043 (GRCm39)		probably benign	Het
Btnl9	T	A	11: 49,066,830 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,940,993 (GRCm39)	A31S	probably benign	Het
Ceacam3	G	A	7: 16,893,808 (GRCm39)	A440T	possibly damaging	Het
Ces1d	G	A	8: 93,912,664 (GRCm39)	T258I	probably benign	Het
Col10a1	A	G	10: 34,266,735 (GRCm39)		probably benign	Het
Coro1b	C	T	19: 4,203,449 (GRCm39)	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,081,928 (GRCm39)	I485L	probably benign	Het
Dmxl1	G	A	18: 50,000,966 (GRCm39)		probably null	Het
Dynlt5	A	G	4: 102,859,700 (GRCm39)	E84G	possibly damaging	Het
Elp6	A	G	9: 110,144,851 (GRCm39)	Y136C	probably damaging	Het
Gon4l	A	T	3: 88,803,532 (GRCm39)	Q1382L	possibly damaging	Het
Guca1a	T	C	17: 47,711,295 (GRCm39)	E17G	probably damaging	Het
Gucy2d	G	A	7: 98,098,982 (GRCm39)	G267E	probably damaging	Het
Gvin3	T	A	7: 106,199,314 (GRCm39)		noncoding transcript	Het
Hspg2	T	A	4: 137,256,105 (GRCm39)		probably null	Het
Il1a	G	T	2: 129,149,821 (GRCm39)	D26E	possibly damaging	Het
Il22b	T	A	10: 118,130,789 (GRCm39)	I36F	probably damaging	Het
Kcna1	A	T	6: 126,620,075 (GRCm39)	F82I	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,189,323 (GRCm39)	C120G	probably benign	Het
Lars1	A	G	18: 42,384,363 (GRCm39)	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,014,848 (GRCm39)		probably null	Het
Mapkapk3	T	C	9: 107,133,491 (GRCm39)	D349G	probably damaging	Het
Mknk2	A	T	10: 80,503,059 (GRCm39)	I421N	probably benign	Het
Myh6	A	G	14: 55,191,381 (GRCm39)	I820T	probably benign	Het
Notch2	T	G	3: 98,033,450 (GRCm39)	V1182G	probably damaging	Het
Or1af1	T	G	2: 37,109,684 (GRCm39)	F61C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2z2	C	T	11: 58,346,680 (GRCm39)	V32M	probably damaging	Het
Ppfia4	A	T	1: 134,245,632 (GRCm39)	S641T	probably damaging	Het
Prok1	T	A	3: 107,146,949 (GRCm39)	H6L	probably benign	Het
Ptprm	A	T	17: 67,000,468 (GRCm39)	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,612,575 (GRCm39)	R762Q	probably benign	Het
Rgs20	G	T	1: 5,140,333 (GRCm39)	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,640,288 (GRCm39)	T163A	probably benign	Het
Rrm1	A	T	7: 102,114,974 (GRCm39)	N37I	probably damaging	Het
Shc4	T	A	2: 125,481,350 (GRCm39)	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,252,143 (GRCm39)	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,677,377 (GRCm39)	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294 (GRCm39)	E770G	probably damaging	Het
Svop	A	G	5: 114,198,186 (GRCm39)	V129A	probably damaging	Het
Szt2	A	T	4: 118,232,663 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,951,105 (GRCm39)		probably benign	Het
Tmem30a	T	A	9: 79,687,930 (GRCm39)	I80F	probably damaging	Het
Vmn2r16	G	T	5: 109,511,708 (GRCm39)	L638F	probably damaging	Het
Xkr7	T	A	2: 152,896,244 (GRCm39)	I366N	probably damaging	Het
Zer1	A	G	2: 29,990,998 (GRCm39)		probably benign	Het

Other mutations in Dio1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9621:Dio1	UTSW	4	107,149,558 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGATATGAACCCTGGGAAGATAC -3'
(R):5'- AACAGAGCATCCTGGCCATG -3'

Sequencing Primer
(F):5'- TGGGAAGATACCAGCCAAGAG -3'
(R):5'- AGGAACCCCCGATTCGC -3'

Posted On

2016-09-01