|Institutional Source||Beutler Lab|
|Gene Name||thyroid peroxidase|
|Is this an essential gene?||Possibly essential (E-score: 0.539)|
|Stock #||R4374 (G1)|
|Chromosomal Location||30054659-30132624 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 30103152 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 401 (E401G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021005 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021005]|
|Predicted Effect||possibly damaging
AA Change: E401G
PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: E401G
|Meta Mutation Damage Score||0.6767|
|Coding Region Coverage||
|Validation Efficiency||97% (38/39)|
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||
|Other mutations in Tpo||
(F):5'- TAAGAAAGCCCATGGTGGTC -3'
(R):5'- ACTGCTGCGTGTCAACACTC -3'
(F):5'- GATACTCCCCTGGGCTCACAATG -3'
(R):5'- GTGTCAACACTCTCCACCTAGATG -3'