Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01660:Tpo'

103157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpo

Ensembl Gene

ENSMUSG00000020673

Gene Name

thyroid peroxidase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

IGL01660

Quality Score

Status

Chromosome

Chromosomal Location

30104658-30182623 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 30169399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021005] [ENSMUST00000155263]

AlphaFold

P35419

Predicted Effect

probably benign
Transcript: ENSMUST00000021005

SMART Domains

Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673

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

probably benign
Transcript: ENSMUST00000155263

SMART Domains

Protein: ENSMUSP00000133853
Gene: ENSMUSG00000020673

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
SCOP:g1cxp.1	136	155	5e-3	SMART

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	A	G	19: 34,229,191 (GRCm39)	I66T	probably damaging	Het
Actl11	T	C	9: 107,806,247 (GRCm39)	V190A	probably benign	Het
Ankub1	T	A	3: 57,597,817 (GRCm39)	Y51F	possibly damaging	Het
Armh3	A	T	19: 45,928,915 (GRCm39)	L393H	probably damaging	Het
Ccdc63	G	A	5: 122,249,027 (GRCm39)	S434L	possibly damaging	Het
Cdan1	T	A	2: 120,556,134 (GRCm39)	I711F	possibly damaging	Het
Cep170b	C	A	12: 112,710,594 (GRCm39)	N1474K	probably damaging	Het
Cyp2c40	A	G	19: 39,775,254 (GRCm39)	S333P	probably damaging	Het
Dars1	A	G	1: 128,343,081 (GRCm39)		probably benign	Het
Dock3	T	A	9: 106,909,563 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,360,471 (GRCm39)	I359V	possibly damaging	Het
Fut8	T	G	12: 77,497,032 (GRCm39)	L414*	probably null	Het
Gja1	A	G	10: 56,264,544 (GRCm39)	Y301C	probably damaging	Het
Glipr1l1	T	C	10: 111,908,184 (GRCm39)	S161P	probably damaging	Het
Gpat4	A	T	8: 23,665,354 (GRCm39)		probably null	Het
Grhl1	T	A	12: 24,658,577 (GRCm39)		probably null	Het
Hectd3	T	C	4: 116,853,569 (GRCm39)	V181A	possibly damaging	Het
Htr2a	T	A	14: 74,943,194 (GRCm39)	I258N	probably damaging	Het
Hyou1	T	A	9: 44,292,414 (GRCm39)	D83E	possibly damaging	Het
Myh10	T	A	11: 68,676,715 (GRCm39)	L862Q	probably benign	Het
Nkx2-2	T	C	2: 147,027,833 (GRCm39)	S36G	probably benign	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Nuak2	T	C	1: 132,259,308 (GRCm39)	V362A	probably benign	Het
Nyap2	G	A	1: 81,169,642 (GRCm39)	C133Y	probably damaging	Het
Oas2	T	C	5: 120,879,288 (GRCm39)	T351A	probably benign	Het
Or11m3	C	T	15: 98,396,076 (GRCm39)	T241I	probably damaging	Het
Or5m13	T	C	2: 85,748,908 (GRCm39)	I213T	probably benign	Het
Pde4d	A	T	13: 110,074,606 (GRCm39)	I404F	probably damaging	Het
Pga5	A	G	19: 10,652,456 (GRCm39)	S95P	probably damaging	Het
Pitpnm2	A	T	5: 124,261,257 (GRCm39)	D947E	probably damaging	Het
Pla2g10	C	T	16: 13,545,950 (GRCm39)	R28H	probably damaging	Het
Prlr	A	G	15: 10,317,676 (GRCm39)	D84G	probably damaging	Het
Rbm15b	C	T	9: 106,762,908 (GRCm39)	G420D	probably damaging	Het
Tbcd	A	G	11: 121,496,153 (GRCm39)	T1063A	probably benign	Het
Tmc2	C	T	2: 130,102,144 (GRCm39)	Q770*	probably null	Het
Vim	A	G	2: 13,579,624 (GRCm39)	N128D	probably damaging	Het
Vmn1r21	A	T	6: 57,821,222 (GRCm39)	I74N	probably damaging	Het
Vmn2r52	A	C	7: 9,893,107 (GRCm39)	I677M	probably damaging	Het

Other mutations in Tpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Tpo	APN	12	30,134,619 (GRCm39)	missense	probably damaging	1.00
IGL00694:Tpo	APN	12	30,155,993 (GRCm39)	missense	probably damaging	0.98
IGL01939:Tpo	APN	12	30,134,646 (GRCm39)	missense	possibly damaging	0.83
IGL02624:Tpo	APN	12	30,150,413 (GRCm39)	missense	probably benign	0.40
IGL03268:Tpo	APN	12	30,144,964 (GRCm39)	missense	possibly damaging	0.82
IGL03330:Tpo	APN	12	30,153,500 (GRCm39)	missense	probably damaging	0.97
IGL03138:Tpo	UTSW	12	30,124,170 (GRCm39)	missense	probably benign	0.00
R0025:Tpo	UTSW	12	30,150,389 (GRCm39)	missense	probably benign	0.03
R0025:Tpo	UTSW	12	30,150,389 (GRCm39)	missense	probably benign	0.03
R0076:Tpo	UTSW	12	30,154,022 (GRCm39)	missense	probably damaging	1.00
R0472:Tpo	UTSW	12	30,150,485 (GRCm39)	missense	probably benign	0.03
R1389:Tpo	UTSW	12	30,153,109 (GRCm39)	missense	probably damaging	0.98
R1493:Tpo	UTSW	12	30,181,808 (GRCm39)	missense	possibly damaging	0.78
R1526:Tpo	UTSW	12	30,134,694 (GRCm39)	missense	probably damaging	0.99
R1674:Tpo	UTSW	12	30,150,567 (GRCm39)	missense	probably benign	0.16
R1689:Tpo	UTSW	12	30,148,245 (GRCm39)	missense	probably damaging	1.00
R1986:Tpo	UTSW	12	30,169,465 (GRCm39)	missense	probably damaging	1.00
R2381:Tpo	UTSW	12	30,181,826 (GRCm39)	missense	possibly damaging	0.67
R2484:Tpo	UTSW	12	30,153,968 (GRCm39)	missense	probably benign	0.12
R2902:Tpo	UTSW	12	30,169,448 (GRCm39)	missense	possibly damaging	0.91
R4105:Tpo	UTSW	12	30,142,585 (GRCm39)	missense	probably damaging	0.98
R4106:Tpo	UTSW	12	30,142,585 (GRCm39)	missense	probably damaging	0.98
R4107:Tpo	UTSW	12	30,142,585 (GRCm39)	missense	probably damaging	0.98
R4108:Tpo	UTSW	12	30,142,585 (GRCm39)	missense	probably damaging	0.98
R4109:Tpo	UTSW	12	30,142,585 (GRCm39)	missense	probably damaging	0.98
R4374:Tpo	UTSW	12	30,153,151 (GRCm39)	missense	possibly damaging	0.50
R4425:Tpo	UTSW	12	30,154,015 (GRCm39)	missense	probably damaging	1.00
R4600:Tpo	UTSW	12	30,148,228 (GRCm39)	missense	probably benign	0.32
R4668:Tpo	UTSW	12	30,153,289 (GRCm39)	missense	probably benign	0.03
R4758:Tpo	UTSW	12	30,125,870 (GRCm39)	missense	probably damaging	1.00
R4838:Tpo	UTSW	12	30,142,633 (GRCm39)	missense	probably damaging	1.00
R4869:Tpo	UTSW	12	30,153,364 (GRCm39)	missense	probably benign	0.00
R5163:Tpo	UTSW	12	30,155,979 (GRCm39)	missense	probably benign	0.00
R5223:Tpo	UTSW	12	30,142,589 (GRCm39)	missense	probably damaging	0.99
R5367:Tpo	UTSW	12	30,153,289 (GRCm39)	missense	probably damaging	1.00
R5658:Tpo	UTSW	12	30,105,137 (GRCm39)	missense	possibly damaging	0.95
R5660:Tpo	UTSW	12	30,150,495 (GRCm39)	missense	possibly damaging	0.92
R5671:Tpo	UTSW	12	30,169,490 (GRCm39)	missense	probably benign	0.00
R6019:Tpo	UTSW	12	30,144,980 (GRCm39)	missense	possibly damaging	0.94
R6074:Tpo	UTSW	12	30,128,186 (GRCm39)	missense	probably benign	0.15
R6181:Tpo	UTSW	12	30,181,884 (GRCm39)	missense	probably benign	0.37
R6321:Tpo	UTSW	12	30,153,107 (GRCm39)	missense	probably damaging	1.00
R6433:Tpo	UTSW	12	30,134,753 (GRCm39)	missense	probably benign
R7206:Tpo	UTSW	12	30,153,133 (GRCm39)	missense	possibly damaging	0.76
R7234:Tpo	UTSW	12	30,142,685 (GRCm39)	missense	probably benign	0.00
R7473:Tpo	UTSW	12	30,142,589 (GRCm39)	missense	probably benign	0.15
R7571:Tpo	UTSW	12	30,169,431 (GRCm39)	missense	probably benign	0.00
R7709:Tpo	UTSW	12	30,181,859 (GRCm39)	missense	possibly damaging	0.62
R7844:Tpo	UTSW	12	30,150,404 (GRCm39)	missense	probably damaging	1.00
R7859:Tpo	UTSW	12	30,150,573 (GRCm39)	missense	probably damaging	1.00
R7883:Tpo	UTSW	12	30,153,169 (GRCm39)	missense	probably damaging	1.00
R8138:Tpo	UTSW	12	30,124,103 (GRCm39)	missense	probably benign	0.00
R8171:Tpo	UTSW	12	30,154,045 (GRCm39)	missense	probably damaging	1.00
R8726:Tpo	UTSW	12	30,105,137 (GRCm39)	missense	possibly damaging	0.95
R8877:Tpo	UTSW	12	30,142,738 (GRCm39)	missense	probably damaging	0.99
R9400:Tpo	UTSW	12	30,169,441 (GRCm39)	missense	possibly damaging	0.94
R9649:Tpo	UTSW	12	30,125,875 (GRCm39)	missense	probably damaging	1.00
X0050:Tpo	UTSW	12	30,128,093 (GRCm39)	missense	probably damaging	1.00
Z1088:Tpo	UTSW	12	30,144,781 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21