|Institutional Source||Beutler Lab|
|Gene Name||eukaryotic translation initiation factor 2 alpha kinase 3|
|Is this an essential gene?||Possibly essential (E-score: 0.561)|
|Stock #||R6940 (G1)|
|Chromosomal Location||70844515-70905245 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 70892402 bp|
|Amino Acid Change||Valine to Alanine at position 691 (V691A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034093 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034093]|
|Predicted Effect||possibly damaging
AA Change: V691A
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: V691A
|Meta Mutation Damage Score||0.206|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
FUNCTION: The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in a similar gene in human are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice develop exocrine pancreatic insufficiency and progressive diabetes mellitus. They are growth retarded, hyperglycemic, exhibit increased cell death in the pancreas, have decreased numbers of pancreatic beta cells and about half diebefore weaning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eif2ak3||
(F):5'- ATGTTCTTTGTCGCACATGATG -3'
(R):5'- AACTGTCCTGGAGGTTGTAGGC -3'
(F):5'- ACATGATGTGTTTTATTCCCACTGCG -3'
(R):5'- CGTCCGCTGAGTCACTGTTG -3'