|Institutional Source||Beutler Lab|
|Gene Name||SECIS binding protein 2|
|Synonyms||SBP2, 2210413N07Rik, 2810012K13Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.122)|
|Stock #||R7261 (G1)|
|Chromosomal Location||51651697-51684044 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 51682462 bp|
|Amino Acid Change||Valine to Phenylalanine at position 768 (V768F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045740 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040117] [ENSMUST00000110042]|
|Predicted Effect||probably damaging
AA Change: V768F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V768F
|Predicted Effect||probably benign
|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'- TCTCAGAAAGCAGTCGCCTTTG -3'
(R):5'- AGTGTGGCTCTTCTCCAGTG -3'
(F):5'- CTTTGTCCGAATAATAGCACCGAGG -3'
(R):5'- GCTCTTCTCCAGTGGAAGG -3'