|Institutional Source||Beutler Lab|
|Gene Name||selenoprotein N|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2886 (G1)|
|Chromosomal Location||134537892-134552166 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 134543069 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 324 (D324G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000060026 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060435]|
|Predicted Effect||probably null
AA Change: D324G
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: D324G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.298|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
FUNCTION: This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in the orthologous gene in human are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. Knockout mice deleted for this gene exhibit abnormal lung development. 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. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit satellite cell loss and impaired muscle regeneration. Mice homozygous for a different knock-out allele exhibit subtle core lesions in skeletal muscle after induced oxidative stress and abnormal lung development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Selenon||
(F):5'- CTCATCTAGGATCACAGAGGGC -3'
(R):5'- TGAGAGCCCTGTGCACTATC -3'
(F):5'- CACCGAGGGGCCCACAG -3'
(R):5'- TGTGCACTATCCAGGCCTG -3'