|Institutional Source||Beutler Lab|
|Gene Name||selenoprotein F|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4633 (G1)|
|Chromosomal Location||144570304-144597680 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to T at 144596861 bp|
|Amino Acid Change||Arginine to Stop codon at position 116 (R116*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101817 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082437] [ENSMUST00000106211] [ENSMUST00000151086]|
|Predicted Effect||probably null
AA Change: R116*
AA Change: R116*
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9193|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. Knockout studies in mice also suggest a role for this gene in cataract formation and colon carcinogenesis. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). 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. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit mild oxidative stress in the liver and develop cataracts by 1.5 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Selenof||
(F):5'- CTCTGAAGTAACATGGCGTTTTC -3'
(R):5'- GGATGACCAATGTAAGCATGC -3'
(F):5'- CACATTTGGGTCTTTGCTGAAAAAG -3'
(R):5'- GCAAAACTAAGTTATTGTCTAGGTGC -3'