|Institutional Source||Beutler Lab|
|Gene Name||eukaryotic translation initiation factor 4E binding protein 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.384)|
|Stock #||R2406 (G1)|
|Chromosomal Location||27260329-27276674 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 27273334 bp|
|Amino Acid Change||Isoleucine to Valine at position 52 (I52V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033880 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033880]|
|Predicted Effect||probably damaging
AA Change: I52V
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: I52V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.282|
|Coding Region Coverage||
|Validation Efficiency||95% (42/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted mutation display hypoglycemia and hypoleptinemia with significantly reduced white fat pads and a notable increase in metabolic rate. Male white adipose tissue exhibits the multilocular appearance of brown adipocytes, and expresses UCP1, a specific marker of brown fat. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eif4ebp1||
(F):5'- GCATCTTAGTGGGCAACAAAC -3'
(R):5'- TCCTTCCAGTTCAGGACCTG -3'
(F):5'- TCTTAGTGGGCAACAAACACCTC -3'
(R):5'- TGGACAGGACTCACCGC -3'