Incidental Mutation 'R9111:Eif4e'
ID 692240
Institutional Source Beutler Lab
Gene Symbol Eif4e
Ensembl Gene ENSMUSG00000028156
Gene Name eukaryotic translation initiation factor 4E
Synonyms If4e, eIF-4E
MMRRC Submission 068971-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R9111 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 138231952-138265457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138252122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 20 (E20G)
Ref Sequence ENSEMBL: ENSMUSP00000143690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029803] [ENSMUST00000196990] [ENSMUST00000200020] [ENSMUST00000200100] [ENSMUST00000200239]
AlphaFold P63073
Predicted Effect probably benign
Transcript: ENSMUST00000029803
AA Change: E20G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029803
Gene: ENSMUSG00000028156
AA Change: E20G

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 38 199 8.7e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196990
SMART Domains Protein: ENSMUSP00000143104
Gene: ENSMUSG00000028156

DomainStartEndE-ValueType
Pfam:IF4E 1 115 1.4e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200020
AA Change: E20G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143690
Gene: ENSMUSG00000028156
AA Change: E20G

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 38 183 1.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200100
AA Change: E20G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143772
Gene: ENSMUSG00000028156
AA Change: E20G

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 31 167 3.2e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000200239
AA Change: E20G
SMART Domains Protein: ENSMUSP00000143481
Gene: ENSMUSG00000028156
AA Change: E20G

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 38 79 5.4e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: This gene encodes a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. It has also been associated with autism spectrum disorders. Consistently, knockout of this gene results in increased translation of neuroligins, postsynaptic proteins linked to autism spectrum disorders. Pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit resistance to developing prostate intraepithelial neoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,696,646 (GRCm39) N210S Het
Adamts17 A G 7: 66,489,648 (GRCm39) D22G probably damaging Het
Aldh3b1 T C 19: 3,971,797 (GRCm39) E58G probably damaging Het
Atg2a G A 19: 6,311,534 (GRCm39) A1830T probably damaging Het
Birc6 T C 17: 74,966,340 (GRCm39) V4118A probably damaging Het
Ccdc28a G A 10: 18,100,750 (GRCm39) P73S possibly damaging Het
Cdc42bpb A T 12: 111,284,903 (GRCm39) D771E probably benign Het
Cdk14 G A 5: 5,315,985 (GRCm39) P13S possibly damaging Het
Cdr2 G A 7: 120,559,345 (GRCm39) S158F possibly damaging Het
Cfap44 A T 16: 44,252,326 (GRCm39) T812S probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cp A T 3: 20,027,949 (GRCm39) I452F probably damaging Het
Dcdc2c T A 12: 28,585,488 (GRCm39) I2F probably damaging Het
Dlat G A 9: 50,570,906 (GRCm39) probably benign Het
Dock1 A G 7: 134,601,017 (GRCm39) D984G possibly damaging Het
Dsc2 T C 18: 20,167,764 (GRCm39) I710V probably benign Het
Fbxw16 T C 9: 109,265,679 (GRCm39) Y380C probably damaging Het
Fscn3 A G 6: 28,430,310 (GRCm39) D160G probably damaging Het
Gm9195 G A 14: 72,694,123 (GRCm39) Q1531* probably null Het
Hps3 T C 3: 20,084,575 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igsf1 C T X: 48,875,736 (GRCm39) E755K probably null Het
Kalrn A G 16: 34,181,371 (GRCm39) V89A probably damaging Het
Kcng1 C A 2: 168,104,535 (GRCm39) G437V probably damaging Het
Krt82 C T 15: 101,451,786 (GRCm39) R343Q probably benign Het
Lbr T C 1: 181,645,068 (GRCm39) D528G possibly damaging Het
Macf1 T C 4: 123,406,819 (GRCm39) E256G probably damaging Het
Mier2 T C 10: 79,381,285 (GRCm39) probably benign Het
Mmp9 T A 2: 164,792,726 (GRCm39) probably null Het
Myrf A G 19: 10,191,421 (GRCm39) probably null Het
Ncor1 T A 11: 62,280,585 (GRCm39) T82S possibly damaging Het
Or4c107 G A 2: 88,789,055 (GRCm39) V82I probably benign Het
P2rx6 G T 16: 17,385,627 (GRCm39) W176L probably benign Het
Pde4b A G 4: 102,454,657 (GRCm39) E108G probably damaging Het
Pik3c2a A G 7: 115,993,531 (GRCm39) V412A probably damaging Het
Prkd2 A G 7: 16,584,131 (GRCm39) E328G probably benign Het
Prmt1 A C 7: 44,631,169 (GRCm39) V114G probably damaging Het
Rnf133 G A 6: 23,648,928 (GRCm39) H334Y probably benign Het
Rps18-ps5 T A 13: 28,441,626 (GRCm39) L3Q probably damaging Het
Secisbp2l A G 2: 125,602,206 (GRCm39) S385P probably benign Het
Sel1l3 A T 5: 53,279,213 (GRCm39) probably benign Het
Sf3a2 ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT 10: 80,640,271 (GRCm39) probably benign Het
Sfpq CCAGCAGCAGCAGCAGC CCAGCAGCAGCAGC 4: 126,915,401 (GRCm39) probably benign Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Slc5a4b A T 10: 75,925,827 (GRCm39) probably benign Het
Slc9a3 A G 13: 74,298,920 (GRCm39) Y113C probably damaging Het
Ugt3a1 T C 15: 9,306,333 (GRCm39) F161L possibly damaging Het
Zhx2 T C 15: 57,685,984 (GRCm39) I451T probably damaging Het
Other mutations in Eif4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Eif4e APN 3 138,253,412 (GRCm39) splice site probably benign
IGL03328:Eif4e APN 3 138,259,488 (GRCm39) intron probably benign
R1398:Eif4e UTSW 3 138,252,136 (GRCm39) missense probably damaging 0.99
R2010:Eif4e UTSW 3 138,261,219 (GRCm39) missense probably benign 0.08
R3925:Eif4e UTSW 3 138,261,198 (GRCm39) missense probably damaging 1.00
R6026:Eif4e UTSW 3 138,256,661 (GRCm39) missense probably damaging 1.00
R7038:Eif4e UTSW 3 138,232,943 (GRCm39) unclassified probably benign
R8916:Eif4e UTSW 3 138,256,043 (GRCm39) intron probably benign
R9350:Eif4e UTSW 3 138,259,470 (GRCm39) missense probably benign 0.01
R9414:Eif4e UTSW 3 138,253,495 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCAGTAGAGTAGCCCGATTC -3'
(R):5'- ATGTCTATCTCCTTCAGAGGCC -3'

Sequencing Primer
(F):5'- TAGAGTAGCCCGATTCTCCTAGAG -3'
(R):5'- TCCTCTACAGGCTGACAACTG -3'
Posted On 2021-12-30