|Institutional Source||Beutler Lab|
|Gene Name||eukaryotic translation elongation factor 1 alpha 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4902 (G1)|
|Chromosomal Location||181147653-181157014 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 181148088 bp|
|Amino Acid Change||Aspartic acid to Valine at position 428 (D428V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000054556 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055990]|
|Predicted Effect||probably benign
AA Change: D428V
PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: D428V
|Meta Mutation Damage Score||0.9402|
|Coding Region Coverage||
|Validation Efficiency||100% (84/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eef1a2||
(F):5'- TCTTACAAGCGGAGGTGCAG -3'
(R):5'- GACGGCCTAGTTTGGTCTAACTAAAG -3'
(F):5'- TACAAGCGGAGGTGCAGACATG -3'
(R):5'- AAGAACTACATACTTGCTGCTGTTCC -3'