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|Institutional Source||Beutler Lab|
|Gene Name||selenophosphate synthetase 2|
|Is this an essential gene?||Possibly essential (E-score: 0.734)|
|Stock #||R5054 (G1)|
|Chromosomal Location||127271879-127274055 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 127273392 bp|
|Amino Acid Change||Methionine to Isoleucine at position 176 (M176I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081009 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082428]|
|Predicted Effect||probably benign
AA Change: M176I
PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: M176I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3046|
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
|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'- GGTTAATACCAGCACATCTCCTACC -3'
(R):5'- TGAGCATTGGCATGGACTC -3'
(F):5'- ACGGCACTATCAGGCATTATG -3'
(R):5'- ATTGGCATGGACTCCTGCG -3'