|Institutional Source||Beutler Lab|
|Gene Name||selenophosphate synthetase 2|
|Is this an essential gene?||Possibly essential (E-score: 0.734)|
|Stock #||R5432 (G1)|
|Chromosomal Location||127271879-127274055 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 127273805 bp|
|Amino Acid Change||Arginine to Tryptophan at position 39 (R39W)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081009 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082428]|
|Predicted Effect||probably damaging
AA Change: R39W
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: R39W
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine (Sec) that is co-translationally incorporated into selenoproteins at in-frame UGA codons, which normally signal translation termination. This protein itself contains a Sec residue in its predicted active site. The 3' UTR of this gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sephs2||
(F):5'- GAGTCCATGCCAATGCTCAG -3'
(R):5'- ATCTGCAGGTATCTGGGCCTTC -3'
(F):5'- ATGCCAATGCTCAGCGAGG -3'
(R):5'- CAGGTATCTGGGCCTTCTGGTC -3'