Mutagenetix > Incidental Mutation

Incidental Mutation 'R6019:Tpo'

478814

Institutional Source

Beutler Lab

Gene Symbol

Tpo

Ensembl Gene

ENSMUSG00000020673

Gene Name

thyroid peroxidase

Synonyms

MMRRC Submission

044193-MU

Accession Numbers

Essential gene?

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

Stock #

R6019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30104658-30182623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30144980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 590 (R590S)

Ref Sequence

ENSEMBL: ENSMUSP00000021005 (fasta)

Gene Model

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

AlphaFold

P35419

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021005
AA Change: R590S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: R590S

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

0.3560

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

96% (81/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,201 (GRCm39)	H436Y	possibly damaging	Het
Acad10	A	T	5: 121,772,864 (GRCm39)	H472Q	possibly damaging	Het
Ano8	G	A	8: 71,935,024 (GRCm39)	R393C	probably damaging	Het
Arhgap18	T	A	10: 26,736,646 (GRCm39)	V163E	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacng5	T	C	11: 107,775,214 (GRCm39)	M52V	probably benign	Het
Casz1	T	C	4: 149,031,495 (GRCm39)	C1249R	probably damaging	Het
Cenpj	C	T	14: 56,772,272 (GRCm39)	S1086N	probably benign	Het
Chi3l1	T	C	1: 134,117,310 (GRCm39)	F367S	probably benign	Het
Copg2	A	T	6: 30,787,868 (GRCm39)	I610N	possibly damaging	Het
Cpa6	T	C	1: 10,665,868 (GRCm39)	K57E	possibly damaging	Het
D5Ertd579e	C	T	5: 36,787,036 (GRCm39)	A111T	possibly damaging	Het
Dgat2	A	G	7: 98,803,838 (GRCm39)	M361T	probably benign	Het
Dnm3	G	T	1: 161,962,070 (GRCm39)	F46L	probably damaging	Het
Dph7	T	A	2: 24,853,552 (GRCm39)	C122*	probably null	Het
Dspp	A	T	5: 104,325,905 (GRCm39)	D756V	unknown	Het
Efcab3	T	C	11: 104,933,728 (GRCm39)		probably null	Het
Ep300	T	A	15: 81,525,583 (GRCm39)	M1469K	unknown	Het
Fsip2	T	C	2: 82,818,283 (GRCm39)	I4672T	possibly damaging	Het
Gapdh	A	T	6: 125,139,996 (GRCm39)	L67*	probably null	Het
Gpr75	A	G	11: 30,841,640 (GRCm39)	R182G	probably benign	Het
Gsr	G	T	8: 34,183,835 (GRCm39)	A366S	probably damaging	Het
Gypc	A	G	18: 32,663,248 (GRCm39)	I33T	probably damaging	Het
Hapln1	A	G	13: 89,756,219 (GRCm39)	D341G	probably benign	Het
Hnrnpd	A	G	5: 100,115,095 (GRCm39)	S148P	probably benign	Het
Hydin	A	T	8: 111,293,252 (GRCm39)	T3450S	probably benign	Het
Kif20b	T	C	19: 34,927,864 (GRCm39)	V1002A	probably benign	Het
Kif5c	T	C	2: 49,625,521 (GRCm39)	V597A	probably benign	Het
Kntc1	A	G	5: 123,900,579 (GRCm39)	T226A	probably benign	Het
Krt75	C	A	15: 101,482,158 (GRCm39)	V37L	probably benign	Het
L3mbtl2	A	G	15: 81,571,143 (GRCm39)	I668V	probably benign	Het
Lrp1b	G	A	2: 41,192,982 (GRCm39)	A480V	probably damaging	Het
Lrp1b	T	A	2: 41,366,821 (GRCm39)	D485V	probably damaging	Het
Lrrc37a	T	C	11: 103,347,422 (GRCm39)	H3091R	unknown	Het
Msi1	A	G	5: 115,589,550 (GRCm39)	Y361C	probably damaging	Het
Mtus1	G	T	8: 41,536,077 (GRCm39)	N546K	probably benign	Het
Mup17	T	A	4: 61,511,936 (GRCm39)	T113S	probably benign	Het
Myh11	T	A	16: 14,023,938 (GRCm39)	D1479V	probably damaging	Het
Ncor1	C	T	11: 62,263,987 (GRCm39)	E198K	probably benign	Het
Nrde2	A	G	12: 100,098,501 (GRCm39)	V722A	probably benign	Het
Or13a28	T	C	7: 140,217,925 (GRCm39)	F104L	probably benign	Het
Or51f23	C	T	7: 102,453,491 (GRCm39)	R269*	probably null	Het
Or5ac24	C	T	16: 59,165,798 (GRCm39)	D89N	possibly damaging	Het
Otog	A	G	7: 45,938,374 (GRCm39)	M2028V	probably benign	Het
Paox	T	A	7: 139,711,655 (GRCm39)	V169E	probably damaging	Het
Pcsk9	T	G	4: 106,314,073 (GRCm39)	D174A	probably benign	Het
Pde4b	A	G	4: 102,427,966 (GRCm39)	E41G	possibly damaging	Het
Pip4k2c	A	G	10: 127,034,943 (GRCm39)	I419T	probably damaging	Het
Plekhg3	G	T	12: 76,624,715 (GRCm39)	E1186*	probably null	Het
Pole	C	A	5: 110,472,380 (GRCm39)	P1548T	probably benign	Het
Pole	C	T	5: 110,472,381 (GRCm39)	P1548L	probably benign	Het
Polq	A	G	16: 36,882,126 (GRCm39)	E1430G	probably damaging	Het
Potefam3c	A	T	8: 69,881,966 (GRCm39)	C337S	probably benign	Het
Pramel47	G	A	5: 95,488,072 (GRCm39)	S2N	probably damaging	Het
Ptgr2	T	C	12: 84,344,920 (GRCm39)	S98P	probably damaging	Het
Ralgapa1	A	G	12: 55,730,827 (GRCm39)	Y1903H	possibly damaging	Het
Rasgrp1	T	C	2: 117,122,376 (GRCm39)	D338G	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnase13	C	T	14: 52,159,860 (GRCm39)	C93Y	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
S100z	T	A	13: 95,613,934 (GRCm39)	M59L	probably benign	Het
Ska1	T	A	18: 74,332,992 (GRCm39)	D142V	probably benign	Het
Slc16a3	T	C	11: 120,847,931 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,880,233 (GRCm39)	V669A	probably benign	Het
Snrpd3	A	T	10: 75,368,029 (GRCm39)	T49S	probably damaging	Het
Sort1	T	C	3: 108,264,549 (GRCm39)	L856P	possibly damaging	Het
Srek1ip1	T	A	13: 104,970,830 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,875,796 (GRCm39)	S552P	probably damaging	Het
Stab2	A	G	10: 86,838,886 (GRCm39)	V60A	probably benign	Het
Stard9	GCCC	GCC	2: 120,524,196 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,494,525 (GRCm39)	H743Q	possibly damaging	Het
Trbv12-1	A	T	6: 41,090,780 (GRCm39)	T51S	probably benign	Het
Trbv30	C	T	6: 41,258,708 (GRCm39)	A40V	probably benign	Het
Tulp4	T	A	17: 6,283,490 (GRCm39)	V1173E	possibly damaging	Het
Upk1a	A	T	7: 30,311,810 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,879,610 (GRCm39)	Q772R	probably benign	Het
Vmn1r199	A	G	13: 22,566,769 (GRCm39)	D21G	possibly damaging	Het
Vmn2r7	T	C	3: 64,623,643 (GRCm39)	T317A	probably damaging	Het
Wdfy3	A	G	5: 101,997,289 (GRCm39)	V3112A	probably damaging	Het
Zbtb8os	T	C	4: 129,234,542 (GRCm39)	V40A	possibly damaging	Het
Zfp1002	T	A	2: 150,097,132 (GRCm39)	H99L	probably damaging	Het
Zwint	A	G	10: 72,492,685 (GRCm39)	K108E	possibly 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
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
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'- GTGTTATGCCCAGAGTGCATAC -3'
(R):5'- ACAACAGCAGGGTCACTCTG -3'

Sequencing Primer
(F):5'- GTGCATACCACATATACTTTGCCAC -3'
(R):5'- TCACTCTGCAGCAGGGACTAG -3'

Posted On

2017-06-26