|Institutional Source||Beutler Lab|
|Gene Name||UPF1 regulator of nonsense transcripts homolog (yeast)|
|Synonyms||B430202H16Rik, PNORF-1, Rent1|
|Essential gene?||Probably essential (E-score: 0.970)|
|Stock #||R1018 (G1)|
|Chromosomal Location||70331525-70353278 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 70338906 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 514 (H514Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075089 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075666] [ENSMUST00000215817]|
AA Change: H514Q
PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: H514Q
AA Change: H503Q
PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|Meta Mutation Damage Score||0.3019|
|Coding Region Coverage||
|Validation Efficiency||100% (50/50)|
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'- ATAGGCAGGTACAGCCATGCCAAG -3'
(R):5'- CTCAACCACTCTCAGGTGCCATTAG -3'
(F):5'- TGTCATCCACATGAGGCACG -3'
(R):5'- AGGTGCCATTAGGCCCC -3'