|Institutional Source||Beutler Lab|
|Gene Name||eukaryotic translation initiation factor 2B, subunit 5 epsilon|
|Is this an essential gene?||Probably essential (E-score: 0.970)|
|Stock #||R8503 (G1)|
|Chromosomal Location||20498817-20509323 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20498980 bp|
|Amino Acid Change||Serine to Proline at position 23 (S23P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003320 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003320]|
|Predicted Effect||probably benign
AA Change: S23P
PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: S23P
|Coding Region Coverage||
|Validation Efficiency||96% (50/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eif2b5||
(F):5'- GGTCTGCTGGTACACACATG -3'
(R):5'- TTCACTAACCAGCTGCAGTGG -3'
(F):5'- GCTGGTACACACATGCGCATTC -3'
(R):5'- GCAGTGGCAACCTGCGG -3'