|Institutional Source||Beutler Lab|
|Gene Name||UPF1 regulator of nonsense transcripts homolog (yeast)|
|Synonyms||B430202H16Rik, PNORF-1, Rent1|
|Is this an essential gene?||Probably essential (E-score: 0.969)|
|Stock #||R6010 (G1)|
|Chromosomal Location||70331525-70353278 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 70337025 bp|
|Amino Acid Change||Valine to Alanine at position 720 (V720A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075666] [ENSMUST00000215817]|
|Predicted Effect||possibly damaging
AA Change: V731A
PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V731A
|Predicted Effect||probably damaging
AA Change: V720A
PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|Meta Mutation Damage Score||0.2489|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable in the pre-implantation period but resorb in the early post-implantation period. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Upf1||
(F):5'- CTGGCCATGGTGAAAGGTATG -3'
(R):5'- TGAGGGACTTCTTGCTGCAG -3'
(F):5'- TATGACGACCACTGTGGAGC -3'
(R):5'- AGGGACTTCTTGCTGCAGCTAATC -3'