Incidental Mutation 'R2406:Eif4ebp1'
ID 248009
Institutional Source Beutler Lab
Gene Symbol Eif4ebp1
Ensembl Gene ENSMUSG00000031490
Gene Name eukaryotic translation initiation factor 4E binding protein 1
Synonyms 4e-bp1, PHAS-I
MMRRC Submission 040372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R2406 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27750355-27765684 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27763362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 52 (I52V)
Ref Sequence ENSEMBL: ENSMUSP00000033880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033880]
AlphaFold Q60876
Predicted Effect probably damaging
Transcript: ENSMUST00000033880
AA Change: I52V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033880
Gene: ENSMUSG00000031490
AA Change: I52V

DomainStartEndE-ValueType
Pfam:eIF_4EBP 1 117 2.4e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210959
Meta Mutation Damage Score 0.2607 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 95% (42/44)
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T A 17: 35,879,352 (GRCm39) V230E probably damaging Het
Adam22 A T 5: 8,230,064 (GRCm39) probably benign Het
AW554918 A G 18: 25,473,344 (GRCm39) I180V possibly damaging Het
C9 T C 15: 6,512,780 (GRCm39) S301P possibly damaging Het
Cdc42bpb T C 12: 111,268,558 (GRCm39) Q1214R probably benign Het
Chaf1b T C 16: 93,697,043 (GRCm39) I351T probably damaging Het
Clip1 T C 5: 123,741,723 (GRCm39) E1177G probably damaging Het
Colgalt1 G A 8: 72,070,312 (GRCm39) C198Y probably damaging Het
Dennd4b C T 3: 90,182,795 (GRCm39) R871C probably damaging Het
Efcab3 A T 11: 104,611,457 (GRCm39) D433V probably benign Het
Fbxw5 T C 2: 25,394,195 (GRCm39) I86T probably damaging Het
Gm10650 A G 3: 127,833,530 (GRCm39) noncoding transcript Het
Helz G A 11: 107,577,378 (GRCm39) A1910T unknown Het
Hsf2 C T 10: 57,373,642 (GRCm39) T70I probably damaging Het
Ifih1 A G 2: 62,437,447 (GRCm39) probably benign Het
Kdm2a T C 19: 4,372,546 (GRCm39) D933G probably damaging Het
Macc1 T C 12: 119,429,346 (GRCm39) I832T probably damaging Het
Mapk15 T C 15: 75,870,697 (GRCm39) S512P possibly damaging Het
Mybpc2 A T 7: 44,171,149 (GRCm39) I134N possibly damaging Het
Myh4 A G 11: 67,150,000 (GRCm39) E1853G probably damaging Het
Ncoa3 T C 2: 165,897,279 (GRCm39) V690A probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or5b97 A G 19: 12,878,991 (GRCm39) V51A probably benign Het
Pacsin2 A T 15: 83,269,313 (GRCm39) probably benign Het
Piezo2 A T 18: 63,155,596 (GRCm39) L2416Q probably damaging Het
Pip5k1c T A 10: 81,144,858 (GRCm39) I233N probably damaging Het
Ptcd3 T C 6: 71,865,631 (GRCm39) D428G probably damaging Het
Ptprf T C 4: 118,126,501 (GRCm39) D84G possibly damaging Het
Rasgrf2 T C 13: 92,120,359 (GRCm39) D798G probably benign Het
Setd7 A G 3: 51,450,097 (GRCm39) Y110H probably damaging Het
Sgta T C 10: 80,887,081 (GRCm39) I61M possibly damaging Het
Shank1 A G 7: 44,006,376 (GRCm39) D2031G possibly damaging Het
Skint5 A G 4: 113,799,864 (GRCm39) Y88H probably damaging Het
Spata31f1a A T 4: 42,851,696 (GRCm39) D153E probably benign Het
Stox1 T C 10: 62,499,945 (GRCm39) I872V probably benign Het
Tmc4 A G 7: 3,674,025 (GRCm39) F385L probably benign Het
Top3a A G 11: 60,646,838 (GRCm39) F258L probably damaging Het
Ttn T C 2: 76,780,499 (GRCm39) Y1084C probably damaging Het
Ubtf A T 11: 102,199,528 (GRCm39) Y504* probably null Het
Wdfy3 T C 5: 102,036,125 (GRCm39) T2098A probably damaging Het
Wnk2 G T 13: 49,214,964 (GRCm39) T1194K possibly damaging Het
Zbtb40 T A 4: 136,725,879 (GRCm39) E560V probably benign Het
Other mutations in Eif4ebp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02728:Eif4ebp1 APN 8 27,763,510 (GRCm39) missense possibly damaging 0.54
R1977:Eif4ebp1 UTSW 8 27,765,129 (GRCm39) missense probably damaging 1.00
R2070:Eif4ebp1 UTSW 8 27,763,372 (GRCm39) missense probably damaging 1.00
R7011:Eif4ebp1 UTSW 8 27,763,372 (GRCm39) missense probably damaging 1.00
R7124:Eif4ebp1 UTSW 8 27,763,447 (GRCm39) missense probably damaging 1.00
R8311:Eif4ebp1 UTSW 8 27,765,124 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCTTAGTGGGCAACAAAC -3'
(R):5'- TCCTTCCAGTTCAGGACCTG -3'

Sequencing Primer
(F):5'- TCTTAGTGGGCAACAAACACCTC -3'
(R):5'- TGGACAGGACTCACCGC -3'
Posted On 2014-11-11