Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03138:Tpo'

453082

Institutional Source

Beutler Lab

Gene Symbol

Tpo

Ensembl Gene

ENSMUSG00000020673

Gene Name

thyroid peroxidase

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03138 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

30104658-30182623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30124170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 877 (T877A)

Ref Sequence

ENSEMBL: ENSMUSP00000021005 (fasta)

Gene Model

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

AlphaFold

P35419

Predicted Effect

probably benign
Transcript: ENSMUST00000021005
AA Change: T877A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: T877A

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

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (40/42)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Casd1	A	G	6: 4,613,236 (GRCm39)	H118R	probably damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Cmya5	T	C	13: 93,201,850 (GRCm39)	K3371E	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Dpysl3	T	C	18: 43,458,859 (GRCm39)	T632A	probably benign	Het
Elapor1	T	A	3: 108,379,309 (GRCm39)	N392Y	probably benign	Het
Fbh1	T	C	2: 11,754,320 (GRCm39)		probably benign	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,325,951 (GRCm39)		probably benign	Het
Gm4876	T	G	6: 17,171,736 (GRCm39)		noncoding transcript	Het
Gvin-ps6	G	T	7: 106,023,650 (GRCm39)		noncoding transcript	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Inhba	T	A	13: 16,192,099 (GRCm39)	D73E	probably benign	Het
Kndc1	A	G	7: 139,519,791 (GRCm39)	N1717D	possibly damaging	Het
Knl1	G	T	2: 118,902,840 (GRCm39)	V1514F	probably damaging	Het
Map1b	C	T	13: 99,562,334 (GRCm39)	A2459T	unknown	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Pias2	T	C	18: 77,237,796 (GRCm39)		probably null	Het
Polr1b	T	C	2: 128,944,908 (GRCm39)	F68S	probably benign	Het
Skic8	T	C	9: 54,635,447 (GRCm39)		probably benign	Het
Slamf1	C	A	1: 171,604,652 (GRCm39)	Q141K	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vmn1r37	A	G	6: 66,709,172 (GRCm39)	K229R	possibly damaging	Het
Wdr17	T	C	8: 55,102,178 (GRCm39)	D947G	probably damaging	Het
Wiz	G	T	17: 32,578,093 (GRCm39)	T473K	probably damaging	Het
Zmynd12	A	G	4: 119,280,186 (GRCm39)	Y35C	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
IGL01660:Tpo	APN	12	30,169,399 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTACACAGCTGTATGGAGGGC -3'
(R):5'- GAAAGTCTTTCTCTGTGGTCCC -3'

Sequencing Primer
(F):5'- CACCCGTGCGCAGATGTAG -3'
(R):5'- GAGTGACTTCCCTGACTCTACG -3'

Posted On

2017-01-27