|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.132)|
|Stock #||R2229 (G1)|
|Chromosomal Location||66670753-66850721 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 66674011 bp|
|Amino Acid Change||Glutamine to Leucine at position 194 (Q194L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070239 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065916]|
|Predicted Effect||probably damaging
AA Change: Q194L
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: Q194L
|Meta Mutation Damage Score||0.2502|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit enlarged thyroid gland, hypothyroidism, abnormal thyroid gland morphology, and decreased body weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tg||
(F):5'- CACATGGGTGGTGGCATAAG -3'
(R):5'- TGTTAACAGTGCTGCCAACAGG -3'
(F):5'- GGTGGCATAAGTACCTATAATGTACC -3'
(R):5'- GGCTGAACGTTCCCATCAATG -3'