Mutagenetix > Incidental Mutation

Incidental Mutation 'R4109:Tpo'

317213

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 #

R4109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30104658-30182623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30142585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 713 (P713L)

Ref Sequence

ENSEMBL: ENSMUSP00000021005 (fasta)

Gene Model

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

AlphaFold

P35419

Predicted Effect

probably damaging
Transcript: ENSMUST00000021005
AA Change: P713L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: P713L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 96.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,057,733 (GRCm39)	D59E	probably benign	Het
Acads	T	C	5: 115,248,913 (GRCm39)	*302W	probably null	Het
Aldh1l1	A	G	6: 90,539,626 (GRCm39)	E185G	probably benign	Het
Arhgap20	A	G	9: 51,727,985 (GRCm39)	H66R	possibly damaging	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Atg2a	A	G	19: 6,308,404 (GRCm39)	T1646A	possibly damaging	Het
Cd200r1	C	G	16: 44,610,447 (GRCm39)	T185S	possibly damaging	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Col1a2	A	T	6: 4,510,705 (GRCm39)	R52*	probably null	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Ifi206	T	G	1: 173,308,554 (GRCm39)	T481P	probably benign	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Nos1ap	A	T	1: 170,146,237 (GRCm39)	M439K	probably benign	Het
Paxbp1	T	A	16: 90,813,786 (GRCm39)	T864S	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Satb1	A	G	17: 52,111,378 (GRCm39)	V160A	probably damaging	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc1a7	T	C	4: 107,825,858 (GRCm39)	V39A	probably benign	Het
Spire1	T	C	18: 67,630,287 (GRCm39)	Q338R	probably damaging	Het
Supt16	T	C	14: 52,400,188 (GRCm39)	E985G	probably damaging	Het
Tmprss11f	T	C	5: 86,677,795 (GRCm39)	K325E	possibly damaging	Het
Trav13-2	A	C	14: 53,872,698 (GRCm39)	H58P	probably benign	Het
Trbv13-2	A	T	6: 41,098,578 (GRCm39)	Y51F	probably benign	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het
Zan	G	A	5: 137,456,881 (GRCm39)	T1285I	unknown	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
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
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'- AGACCTCTCGGCTCTGATTC -3'
(R):5'- CATGCCTTCTCCTGTGTAGG -3'

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

Posted On

2015-05-15