Mutagenetix > Incidental Mutation

Incidental Mutation 'R7376:Iyd'

572400

Institutional Source

Beutler Lab

Gene Symbol

Iyd

Ensembl Gene

ENSMUSG00000019762

Gene Name

iodotyrosine deiodinase

Synonyms

0610009A07Rik

MMRRC Submission

045459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3490274-3504880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3495690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 116 (I116N)

Ref Sequence

ENSEMBL: ENSMUSP00000019896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019896]

AlphaFold

Q9DCX8

PDB Structure

Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) bound to FMN [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) bound to FMN and mono-iodotyrosine (MIT) [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) bound to FMN and di-iodotyrosine (DIT) [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) C217A, C239A bound to FMN and mono-iodotyrosine (MIT) [X-RAY DIFFRACTION]
Crystal structure of Mus musculus iodotyrosine deiodinase (IYD) C217A, C239A bound to FMN [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019896
AA Change: I116N

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

SMART Domains

Protein: ENSMUSP00000019896
Gene: ENSMUSG00000019762
AA Change: I116N

Domain	Start	End	E-Value	Type
transmembrane domain	2	20	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
Pfam:Nitroreductase	93	263	3.5e-23	PFAM

Meta Mutation Damage Score

0.8340

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,118 (GRCm39)	I994V	probably benign	Het
Acan	T	G	7: 78,738,055 (GRCm39)		probably null	Het
Adamts12	G	A	15: 11,277,425 (GRCm39)	V680I	possibly damaging	Het
Adgrg7	T	C	16: 56,545,342 (GRCm39)	I712V	probably damaging	Het
Adgrl3	A	G	5: 81,942,597 (GRCm39)	H1477R	probably damaging	Het
Adgrv1	T	A	13: 81,666,245 (GRCm39)	D1937V	probably damaging	Het
Alms1	T	C	6: 85,599,088 (GRCm39)	S1305P	probably benign	Het
Banp	T	A	8: 122,701,236 (GRCm39)	M39K	probably damaging	Het
Bbs10	A	G	10: 111,135,111 (GRCm39)	T75A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Bltp3b	G	A	10: 89,645,518 (GRCm39)	G1197D	probably damaging	Het
Brinp2	C	T	1: 158,078,938 (GRCm39)	C295Y	probably damaging	Het
Card11	C	T	5: 140,883,993 (GRCm39)	V429I	probably benign	Het
Cdca3	G	A	6: 124,809,538 (GRCm39)	R184H	probably benign	Het
Cep104	A	G	4: 154,067,509 (GRCm39)		probably null	Het
Clspn	A	G	4: 126,484,430 (GRCm39)	K1196R	possibly damaging	Het
Cntnap5b	A	G	1: 99,894,994 (GRCm39)	T89A	possibly damaging	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crat	T	A	2: 30,296,477 (GRCm39)	I330F	probably damaging	Het
Ctbp2	G	T	7: 132,615,697 (GRCm39)	Q413K	possibly damaging	Het
D630045J12Rik	T	C	6: 38,151,238 (GRCm39)	E1220G	probably damaging	Het
Dap	A	G	15: 31,235,985 (GRCm39)	D41G	probably damaging	Het
Dnah14	A	G	1: 181,590,967 (GRCm39)	I3287V	probably benign	Het
Dsp	A	G	13: 38,356,819 (GRCm39)	H233R	probably damaging	Het
Dst	T	C	1: 34,231,770 (GRCm39)	I3121T	probably benign	Het
Espnl	T	G	1: 91,250,036 (GRCm39)	L61R	probably damaging	Het
Evc2	T	C	5: 37,527,983 (GRCm39)	S331P	possibly damaging	Het
Gars1	A	G	6: 55,050,344 (GRCm39)	E535G	probably benign	Het
Hfm1	A	G	5: 107,043,084 (GRCm39)	I650T	possibly damaging	Het
Kif16b	A	G	2: 142,553,792 (GRCm39)	L1002S	probably damaging	Het
Kifbp	C	T	10: 62,394,843 (GRCm39)	V600I	possibly damaging	Het
Lgi1	G	A	19: 38,272,468 (GRCm39)	G113D	probably damaging	Het
Lgi2	G	A	5: 52,695,604 (GRCm39)	R452C	probably damaging	Het
Man2b2	T	G	5: 36,970,722 (GRCm39)	N764T	probably damaging	Het
Mrps18b	A	G	17: 36,221,587 (GRCm39)	I246T	probably benign	Het
Muc5b	A	G	7: 141,426,287 (GRCm39)	T4795A	possibly damaging	Het
Mybl2	G	A	2: 162,924,513 (GRCm39)	G627D	possibly damaging	Het
Ndufb8	C	T	19: 44,543,794 (GRCm39)	R16K	probably benign	Het
Or5k17	A	T	16: 58,746,121 (GRCm39)	V271E	possibly damaging	Het
P4htm	C	T	9: 108,457,991 (GRCm39)	V335M	probably damaging	Het
Pbx3	A	G	2: 34,094,889 (GRCm39)	I249T	probably damaging	Het
Plod3	G	T	5: 137,019,335 (GRCm39)	V360L	probably benign	Het
Podxl2	C	T	6: 88,826,632 (GRCm39)	D161N	probably benign	Het
Polr1b	G	T	2: 128,960,993 (GRCm39)	V651L	probably benign	Het
Prr14	T	C	7: 127,075,749 (GRCm39)	S586P	probably benign	Het
Pum3	C	T	19: 27,371,728 (GRCm39)	G575D	probably benign	Het
Rnf157	C	A	11: 116,251,192 (GRCm39)	A111S	probably benign	Het
Robo3	A	G	9: 37,344,212 (GRCm39)	L29P	probably damaging	Het
Smarca5	T	C	8: 81,452,680 (GRCm39)	N342S	probably damaging	Het
Specc1	T	A	11: 62,009,078 (GRCm39)	I198K	probably benign	Het
Tmem177	A	T	1: 119,837,744 (GRCm39)	*312R	probably null	Het
Tom1l2	A	T	11: 60,152,026 (GRCm39)	M172K	probably benign	Het
Tsc22d4	T	C	5: 137,756,414 (GRCm39)	V3A	unknown	Het
Vmn1r128	G	T	7: 21,083,668 (GRCm39)	G124V	probably damaging	Het
Vmn1r15	T	C	6: 57,235,342 (GRCm39)	I70T	probably benign	Het
Vmn2r60	A	G	7: 41,844,631 (GRCm39)	T665A	probably damaging	Het
Vmn2r83	T	C	10: 79,314,790 (GRCm39)	F346S	probably benign	Het
Wdr7	T	A	18: 63,910,691 (GRCm39)	D694E	probably damaging	Het

Other mutations in Iyd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Iyd	APN	10	3,540,444 (GRCm38)	missense	probably benign
IGL00942:Iyd	APN	10	3,554,070 (GRCm38)	missense	probably damaging	1.00
IGL01556:Iyd	APN	10	3,497,091 (GRCm39)	missense	probably benign	0.00
IGL01907:Iyd	APN	10	3,490,407 (GRCm39)	missense	probably damaging	1.00
IGL03137:Iyd	APN	10	3,501,987 (GRCm39)	missense	probably damaging	0.99
R0628:Iyd	UTSW	10	3,497,127 (GRCm39)	missense	probably damaging	1.00
R0843:Iyd	UTSW	10	3,495,663 (GRCm39)	missense	possibly damaging	0.94
R1636:Iyd	UTSW	10	3,495,588 (GRCm39)	missense	possibly damaging	0.75
R2156:Iyd	UTSW	10	3,497,166 (GRCm39)	critical splice donor site	probably null
R7349:Iyd	UTSW	10	3,495,638 (GRCm39)	missense	possibly damaging	0.94
R7423:Iyd	UTSW	10	3,497,088 (GRCm39)	missense	probably damaging	1.00
R9054:Iyd	UTSW	10	3,490,250 (GRCm39)	utr 5 prime	probably benign
R9546:Iyd	UTSW	10	3,501,884 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GAATTTGCTGTGCTCCTGGC -3'
(R):5'- TTTCTGGCAGTCATTAACAATGGG -3'

Sequencing Primer
(F):5'- CCTGGCTCTTGTTTGCAGATGC -3'
(R):5'- CTCCCATCTTGGTAATAGGGGAC -3'

Posted On

2019-09-13