|Institutional Source||Beutler Lab|
|Gene Name||selenoprotein I|
|Synonyms||4933402G07Rik, Ept1, C79563, D5Wsu178e|
|Is this an essential gene?||Probably essential (E-score: 0.894)|
|Stock #||R0506 (G1)|
|Chromosomal Location||30232581-30272427 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 30266956 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 385 (N385S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000118368 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000132404] [ENSMUST00000145167]|
|AlphaFold||no structure available at present|
AA Change: N385S
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: N385S
|Meta Mutation Damage Score||0.0585|
|Coding Region Coverage||
|Validation Efficiency||100% (100/100)|
|MGI Phenotype||FUNCTION: The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Selenoi||
(F):5'- AGGCCAAGCAACCCTGTAGTTTTC -3'
(R):5'- ACAAGCTGAGCCCAGGTTTCATTC -3'
(F):5'- TCTACTCTGGAAGGCTCACAG -3'
(R):5'- CTTGCTGTCCATATAGCACACAC -3'