|Institutional Source||Beutler Lab|
|Gene Name||eukaryotic translation elongation factor 1 epsilon 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5779 (G1)|
|Chromosomal Location||38644207-38659058 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 38646273 bp|
|Amino Acid Change||Asparagine to Serine at position 141 (N141S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001757 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001757]|
|Predicted Effect||probably damaging
AA Change: N141S
PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: N141S
|Meta Mutation Damage Score||0.1764|
|Coding Region Coverage||
|Validation Efficiency||88% (52/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display early embryonic lethality while heterozygous mice exhibit prenatal semi-lethality and a significantly increased incidence of spontaneous tumorigenesis after 15 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eef1e1||
(F):5'- ATTACGAAGCCTCAACTACAGG -3'
(R):5'- CAACTGTCTGCAGCTTTCAC -3'
(F):5'- ACATTAACAAAGAAACAATGATGCC -3'
(R):5'- AACTGTCTGCAGCTTTCACTTCAG -3'