|Institutional Source||Beutler Lab|
|Gene Name||UPF3 regulator of nonsense transcripts homolog A (yeast)|
|Synonyms||2600001C03Rik, RENT3A, 4930546M19Rik, UPF3|
|Is this an essential gene?||Possibly essential (E-score: 0.530)|
|Stock #||R4239 (G1)|
|Chromosomal Location||13785615-13799193 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13796591 bp|
|Amino Acid Change||Arginine to Glycine at position 324 (R324G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037354 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043767]|
|Predicted Effect||probably benign
AA Change: R324G
PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: R324G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.068|
|Coding Region Coverage||
|Validation Efficiency||95% (55/58)|
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. The encoded protein is one of two functional homologs to yeast Upf3p. 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 binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The gene product protects against mRNA transcript degradation. Homozygous constitutive KO is embryonic lethal. Homozygous conditional KO in testes leads to reduced male fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Upf3a||
(F):5'- ACAGTAGCAGTAATAATAACCGTGG -3'
(R):5'- TAAGCCCAGGAAGGAGGTCTTAC -3'
(F):5'- CCGTGGTAATGTTACAATTTCTCAGC -3'
(R):5'- TCTTACAAGGCAAGGGAGATGC -3'