|Institutional Source||Beutler Lab|
|Gene Name||SECIS binding protein 2|
|Synonyms||SBP2, 2210413N07Rik, 2810012K13Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.101)|
|Stock #||R6888 (G1)|
|Chromosomal Location||51651697-51684044 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 51679941 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 706 (T706A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045740 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040117]|
AA Change: T706A
PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: T706A
|Coding Region Coverage||
FUNCTION: The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in a similar gene in human have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality while heterozygotes exhibit reduced serum selenium levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Secisbp2||
(F):5'- AGTAGATGCTTGTGTCACGG -3'
(R):5'- TACTACAGCTTACGGCAGGC -3'
(F):5'- TGTCACGGGTCTGCTCAAG -3'
(R):5'- CTACCCTGTCATCAGAGGAAGAG -3'