|Institutional Source||Beutler Lab|
|Gene Name||eukaryotic translation initiation factor 2, subunit 1 alpha|
|Synonyms||eIF2alpha, 0910001O23Rik, 2410026C18Rik, Eif2a|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7043 (G1)|
|Chromosomal Location||78861819-78887010 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 78877108 bp|
|Amino Acid Change||Arginine to Leucine at position 113 (R113L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071214 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071230]|
|Predicted Effect||probably damaging
AA Change: R113L
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: R113L
|Meta Mutation Damage Score||0.354|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knocked-in point mutation die within hours of birth and exhibit hypoglycemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eif2s1||
(F):5'- ACTTGAGTTGACTATTGTGAAGGAG -3'
(R):5'- GATGCCAGGCAATCAATCTG -3'
(F):5'- ACTATTGTGAAGGAGTGACTGTTTC -3'
(R):5'- CAGGCAATCAATCTGTGTGC -3'