Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02476:Dio1'

294950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dio1

Ensembl Gene

ENSMUSG00000034785

Gene Name

deiodinase, iodothyronine, type I

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02476

Quality Score

Status

Chromosome

Chromosomal Location

107148662-107164365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107149574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 195 (V195F)

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 damaging
Transcript: ENSMUST00000082426
AA Change: V243F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081007
Gene: ENSMUSG00000034785
AA Change: V243F

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 damaging
Transcript: ENSMUST00000126291
AA Change: V58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114807
Gene: ENSMUSG00000034785
AA Change: V58F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129138
AA Change: V195F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118335
Gene: ENSMUSG00000034785
AA Change: V195F

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

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	A	1: 74,320,683 (GRCm39)		probably benign	Het
Birc6	A	G	17: 75,003,386 (GRCm39)	E4752G	possibly damaging	Het
Chd1	C	T	17: 15,954,535 (GRCm39)	P468S	probably damaging	Het
Cnot3	A	G	7: 3,661,067 (GRCm39)	D556G	probably benign	Het
Csnk1d	A	G	11: 120,863,338 (GRCm39)	Y201H	probably damaging	Het
Dhtkd1	A	G	2: 5,935,717 (GRCm39)	S132P	possibly damaging	Het
Dhx58	G	T	11: 100,593,090 (GRCm39)	Q206K	probably benign	Het
Dio3	T	C	12: 110,245,916 (GRCm39)	V84A	probably benign	Het
Dnai4	T	A	4: 102,944,545 (GRCm39)	I3L	possibly damaging	Het
Extl3	T	C	14: 65,314,693 (GRCm39)	K163R	probably benign	Het
Fat2	A	T	11: 55,201,950 (GRCm39)	S375T	probably damaging	Het
Fbrs	A	G	7: 127,086,841 (GRCm39)	D73G	probably damaging	Het
Fnip1	A	G	11: 54,390,393 (GRCm39)		probably benign	Het
Frmpd4	A	G	X: 166,280,851 (GRCm39)	V343A	probably damaging	Het
Gcc1	T	C	6: 28,420,468 (GRCm39)	D283G	probably benign	Het
Ghr	T	C	15: 3,349,528 (GRCm39)	D550G	probably damaging	Het
Glycam1	G	A	15: 103,471,307 (GRCm39)		probably benign	Het
Gpatch8	A	G	11: 102,369,417 (GRCm39)	S1374P	probably damaging	Het
Grm1	A	T	10: 10,565,197 (GRCm39)	M1037K	probably benign	Het
Gtpbp3	T	C	8: 71,945,242 (GRCm39)	L438P	probably damaging	Het
Ifi205	G	T	1: 173,842,627 (GRCm39)	N356K	probably damaging	Het
Ifi206	A	G	1: 173,309,132 (GRCm39)	L288P	probably benign	Het
Ift57	T	C	16: 49,584,252 (GRCm39)	V291A	probably benign	Het
Kif13a	A	C	13: 46,938,772 (GRCm39)	C166G	probably damaging	Het
Lypd6	A	G	2: 50,080,740 (GRCm39)	T143A	possibly damaging	Het
Mtus2	G	A	5: 148,014,748 (GRCm39)	A514T	probably benign	Het
Neu2	T	C	1: 87,524,674 (GRCm39)	W220R	probably damaging	Het
Notch3	T	C	17: 32,377,612 (GRCm39)	S155G	possibly damaging	Het
Nrxn2	A	G	19: 6,505,015 (GRCm39)	E286G	probably damaging	Het
Onecut3	A	G	10: 80,349,724 (GRCm39)	E406G	probably benign	Het
Oog2	T	A	4: 143,921,799 (GRCm39)	D236E	probably benign	Het
Pck1	A	G	2: 173,000,075 (GRCm39)	H502R	probably benign	Het
Pld1	A	G	3: 28,102,188 (GRCm39)	Y313C	probably damaging	Het
Rhox3f	A	T	X: 36,763,192 (GRCm39)		probably benign	Het
Rpl34	A	G	3: 130,520,613 (GRCm39)		probably benign	Het
Sema4c	T	C	1: 36,595,031 (GRCm39)	K31E	probably damaging	Het
Septin11	T	C	5: 93,296,443 (GRCm39)		probably null	Het
Slc4a9	T	A	18: 36,668,498 (GRCm39)		probably null	Het
Snrnp200	T	A	2: 127,059,408 (GRCm39)	S434T	probably benign	Het
Snx13	A	T	12: 35,136,940 (GRCm39)	I134F	probably damaging	Het
Syt2	T	C	1: 134,675,369 (GRCm39)	S407P	probably benign	Het
Tbc1d19	T	C	5: 54,046,755 (GRCm39)		probably null	Het
Tbc1d32	G	T	10: 56,074,638 (GRCm39)	Q192K	possibly damaging	Het
Ubr4	T	A	4: 139,148,560 (GRCm39)	C1681*	probably null	Het
Vmn1r43	T	A	6: 89,847,043 (GRCm39)	I148F	possibly damaging	Het
Vwa8	T	C	14: 79,162,781 (GRCm39)	V187A	possibly damaging	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
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
R9621:Dio1	UTSW	4	107,149,558 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16