Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Tpo'

402451

Institutional Source

Beutler Lab

Gene Symbol

Tpo

Ensembl Gene

ENSMUSG00000020673

Gene Name

thyroid peroxidase

Synonyms

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30054659-30132624 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30092590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 712 (I712F)

Ref Sequence

ENSEMBL: ENSMUSP00000021005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021005]

AlphaFold

P35419

Predicted Effect

probably damaging
Transcript: ENSMUST00000021005
AA Change: I712F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: I712F

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:An_peroxidase	145	697	4.2e-180	PFAM
CCP	730	782	1.26e-7	SMART
EGF_CA	784	827	3.51e-10	SMART
transmembrane domain	837	859	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140875

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a membrane-bound glycoprotein. The encoded enzyme plays a central role in thyroid gland function. The enzyme functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mice with homozygous missense mutations in this gene exhibit hypothyroid dwarfism and hearing impairment. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	Het

Other mutations in Tpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tpo	APN	12	30084620	missense	probably damaging	1.00
IGL00694:Tpo	APN	12	30105994	missense	probably damaging	0.98
IGL01660:Tpo	APN	12	30119400	splice site	probably benign
IGL01939:Tpo	APN	12	30084647	missense	possibly damaging	0.83
IGL02624:Tpo	APN	12	30100414	missense	probably benign	0.40
IGL03268:Tpo	APN	12	30094965	missense	possibly damaging	0.82
IGL03330:Tpo	APN	12	30103501	missense	probably damaging	0.97
IGL03138:Tpo	UTSW	12	30074171	missense	probably benign	0.00
R0025:Tpo	UTSW	12	30100390	missense	probably benign	0.03
R0025:Tpo	UTSW	12	30100390	missense	probably benign	0.03
R0076:Tpo	UTSW	12	30104023	missense	probably damaging	1.00
R0472:Tpo	UTSW	12	30100486	missense	probably benign	0.03
R1389:Tpo	UTSW	12	30103110	missense	probably damaging	0.98
R1493:Tpo	UTSW	12	30131809	missense	possibly damaging	0.78
R1526:Tpo	UTSW	12	30084695	missense	probably damaging	0.99
R1674:Tpo	UTSW	12	30100568	missense	probably benign	0.16
R1689:Tpo	UTSW	12	30098246	missense	probably damaging	1.00
R1986:Tpo	UTSW	12	30119466	missense	probably damaging	1.00
R2381:Tpo	UTSW	12	30131827	missense	possibly damaging	0.67
R2484:Tpo	UTSW	12	30103969	missense	probably benign	0.12
R2902:Tpo	UTSW	12	30119449	missense	possibly damaging	0.91
R4105:Tpo	UTSW	12	30092586	missense	probably damaging	0.98
R4106:Tpo	UTSW	12	30092586	missense	probably damaging	0.98
R4107:Tpo	UTSW	12	30092586	missense	probably damaging	0.98
R4108:Tpo	UTSW	12	30092586	missense	probably damaging	0.98
R4109:Tpo	UTSW	12	30092586	missense	probably damaging	0.98
R4374:Tpo	UTSW	12	30103152	missense	possibly damaging	0.50
R4425:Tpo	UTSW	12	30104016	missense	probably damaging	1.00
R4600:Tpo	UTSW	12	30098229	missense	probably benign	0.32
R4668:Tpo	UTSW	12	30103290	missense	probably benign	0.03
R4758:Tpo	UTSW	12	30075871	missense	probably damaging	1.00
R4838:Tpo	UTSW	12	30092634	missense	probably damaging	1.00
R4869:Tpo	UTSW	12	30103365	missense	probably benign	0.00
R5163:Tpo	UTSW	12	30105980	missense	probably benign	0.00
R5367:Tpo	UTSW	12	30103290	missense	probably damaging	1.00
R5658:Tpo	UTSW	12	30055138	missense	possibly damaging	0.95
R5660:Tpo	UTSW	12	30100496	missense	possibly damaging	0.92
R5671:Tpo	UTSW	12	30119491	missense	probably benign	0.00
R6019:Tpo	UTSW	12	30094981	missense	possibly damaging	0.94
R6074:Tpo	UTSW	12	30078187	missense	probably benign	0.15
R6181:Tpo	UTSW	12	30131885	missense	probably benign	0.37
R6321:Tpo	UTSW	12	30103108	missense	probably damaging	1.00
R6433:Tpo	UTSW	12	30084754	missense	probably benign
R7206:Tpo	UTSW	12	30103134	missense	possibly damaging	0.76
R7234:Tpo	UTSW	12	30092686	missense	probably benign	0.00
R7473:Tpo	UTSW	12	30092590	missense	probably benign	0.15
R7571:Tpo	UTSW	12	30119432	missense	probably benign	0.00
R7709:Tpo	UTSW	12	30131860	missense	possibly damaging	0.62
R7844:Tpo	UTSW	12	30100405	missense	probably damaging	1.00
R7859:Tpo	UTSW	12	30100574	missense	probably damaging	1.00
R7883:Tpo	UTSW	12	30103170	missense	probably damaging	1.00
R8138:Tpo	UTSW	12	30074104	missense	probably benign	0.00
R8171:Tpo	UTSW	12	30104046	missense	probably damaging	1.00
R8726:Tpo	UTSW	12	30055138	missense	possibly damaging	0.95
R8877:Tpo	UTSW	12	30092739	missense	probably damaging	0.99
R9400:Tpo	UTSW	12	30119442	missense	possibly damaging	0.94
R9649:Tpo	UTSW	12	30075876	missense	probably damaging	1.00
X0050:Tpo	UTSW	12	30078094	missense	probably damaging	1.00
Z1088:Tpo	UTSW	12	30094782	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCTCTCGGCTCTGATTC -3'
(R):5'- ACATGCCTTCTCCTGTGTAGG -3'

Sequencing Primer
(F):5'- GGGTGCTACCATTCTATACGAG -3'
(R):5'- AGGTTTTGGTGGGAGAACAC -3'

Posted On

2016-07-22