Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00561:Tpo'

14555

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 #

IGL00561

Quality Score

Status

Chromosome

Chromosomal Location

30104658-30182623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30134619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 780 (P780S)

Ref Sequence

ENSEMBL: ENSMUSP00000021005 (fasta)

Gene Model

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

AlphaFold

P35419

Predicted Effect

probably damaging
Transcript: ENSMUST00000021005
AA Change: P780S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: P780S

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	A	4: 73,860,956 (GRCm39)	T215S	possibly damaging	Het
Bcl6b	T	C	11: 70,119,310 (GRCm39)		probably benign	Het
C8a	G	A	4: 104,722,642 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,405,643 (GRCm39)	Q1630*	probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Elovl5	G	A	9: 77,868,256 (GRCm39)	R56Q	probably benign	Het
Fcf1	T	C	12: 85,019,835 (GRCm39)	V36A	probably benign	Het
Gdf3	A	G	6: 122,584,085 (GRCm39)	L94P	probably damaging	Het
Kcnt2	A	T	1: 140,450,836 (GRCm39)	H705L	probably damaging	Het
Ly75	A	T	2: 60,206,421 (GRCm39)	C83S	probably damaging	Het
Med12l	T	A	3: 59,135,245 (GRCm39)	S798T	probably benign	Het
Morc3	G	T	16: 93,670,283 (GRCm39)		probably null	Het
Neb	A	T	2: 52,096,117 (GRCm39)	N1049K	probably benign	Het
Nlrp6	A	G	7: 140,503,037 (GRCm39)	D381G	probably damaging	Het
Pcnx1	A	T	12: 82,042,827 (GRCm39)	D2303V	probably damaging	Het
Prss45	A	T	9: 110,669,578 (GRCm39)	N227I	probably damaging	Het
Rbbp6	G	A	7: 122,570,286 (GRCm39)	M34I	probably damaging	Het
Slc30a7	T	C	3: 115,740,369 (GRCm39)		probably null	Het
Smpdl3a	T	C	10: 57,684,042 (GRCm39)	Y267H	probably benign	Het
Snw1	A	G	12: 87,497,574 (GRCm39)		probably null	Het
Sp140	G	A	1: 85,549,393 (GRCm39)	R208K	probably benign	Het
Tbx19	A	G	1: 164,987,968 (GRCm39)	V55A	probably benign	Het
Tmem131	A	G	1: 36,850,508 (GRCm39)	S1059P	probably damaging	Het
Ttn	G	A	2: 76,570,055 (GRCm39)	T26946M	probably damaging	Het
Vps33b	A	G	7: 79,935,591 (GRCm39)	E372G	probably damaging	Het
Vwf	T	C	6: 125,619,684 (GRCm39)	V1454A	possibly damaging	Het
Zbbx	C	T	3: 74,968,839 (GRCm39)		probably null	Het
Zfp747l1	T	A	7: 126,985,716 (GRCm39)		probably benign	Het

Other mutations in Tpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06