Incidental Mutation 'R9414:Eif4e'
ID 711930
Institutional Source Beutler Lab
Gene Symbol Eif4e
Ensembl Gene ENSMUSG00000028156
Gene Name eukaryotic translation initiation factor 4E
Synonyms If4e, eIF-4E
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R9414 (G1)
Quality Score 135.008
Status Validated
Chromosome 3
Chromosomal Location 138231952-138265457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138253495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 67 (D67E)
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: D67E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000029803
Gene: ENSMUSG00000028156
AA Change: D67E

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: D67E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000143690
Gene: ENSMUSG00000028156
AA Change: D67E

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 38 183 1.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200100
SMART Domains Protein: ENSMUSP00000143772
Gene: ENSMUSG00000028156

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 31 167 3.2e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200239
AA Change: D67E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143481
Gene: ENSMUSG00000028156
AA Change: D67E

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 38 79 5.4e-9 PFAM
Meta Mutation Damage Score 0.1383 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 98% (59/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,035,100 (GRCm39) I689K probably damaging Het
Agtpbp1 G T 13: 59,609,902 (GRCm39) T1076K probably damaging Het
Ammecr1l A G 18: 31,904,962 (GRCm39) T68A probably benign Het
Arvcf A G 16: 18,215,580 (GRCm39) E264G probably damaging Het
Cacna1b C T 2: 24,538,514 (GRCm39) D1542N probably damaging Het
Cacna2d2 A G 9: 107,392,395 (GRCm39) T512A probably damaging Het
Crebbp A G 16: 3,925,356 (GRCm39) C1213R probably damaging Het
Cybrd1 G T 2: 70,948,567 (GRCm39) R35L probably damaging Het
Dcaf1 G A 9: 106,757,158 (GRCm39) W1412* probably null Het
Epb41 G A 4: 131,702,162 (GRCm39) T491I probably damaging Het
Fez1 G A 9: 36,779,247 (GRCm39) S308N probably benign Het
Fgfr3 A G 5: 33,887,298 (GRCm39) S206G possibly damaging Het
Flcn A T 11: 59,684,998 (GRCm39) N484K possibly damaging Het
Gdap2 T C 3: 100,090,071 (GRCm39) probably null Het
Gfpt1 T A 6: 87,062,265 (GRCm39) D541E probably benign Het
Gm5089 A G 14: 122,673,604 (GRCm39) F39S unknown Het
Gm7694 C T 1: 170,130,173 (GRCm39) G75D probably benign Het
Gpr15 A G 16: 58,538,516 (GRCm39) L191S probably benign Het
Hmcn1 T G 1: 150,545,187 (GRCm39) T2807P probably damaging Het
Iqgap2 T C 13: 95,783,349 (GRCm39) T1276A Het
Itgae G T 11: 73,002,629 (GRCm39) A129S possibly damaging Het
Kcns1 T C 2: 164,010,378 (GRCm39) E127G probably damaging Het
Kmt2b T C 7: 30,282,307 (GRCm39) E1118G probably damaging Het
Lair1 T C 7: 4,013,819 (GRCm39) I143V probably benign Het
Lcmt2 T C 2: 120,970,621 (GRCm39) D154G possibly damaging Het
Ly9 T C 1: 171,427,275 (GRCm39) T427A probably damaging Het
Man2c1 A G 9: 57,044,030 (GRCm39) T281A possibly damaging Het
Map4k2 T C 19: 6,394,515 (GRCm39) F332L probably benign Het
Meak7 A T 8: 120,495,081 (GRCm39) S226T probably benign Het
Mmp10 A T 9: 7,502,489 (GRCm39) D32V probably benign Het
Mroh2a C T 1: 88,179,096 (GRCm39) R1110W probably benign Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Npnt T C 3: 132,612,116 (GRCm39) N300S probably benign Het
Or13a20 C A 7: 140,232,263 (GRCm39) R124S probably damaging Het
Or5b95 T C 19: 12,657,712 (GRCm39) V80A probably benign Het
Or5k15 G A 16: 58,710,565 (GRCm39) T6I probably benign Het
Pacsin1 T C 17: 27,926,985 (GRCm39) V387A probably damaging Het
Pald1 G T 10: 61,178,932 (GRCm39) A489E probably benign Het
Pcnx1 G T 12: 81,964,978 (GRCm39) G382W probably damaging Het
Pde6b T A 5: 108,567,592 (GRCm39) M294K possibly damaging Het
Phf20 T C 2: 156,136,167 (GRCm39) V662A probably benign Het
Plcg1 T C 2: 160,603,276 (GRCm39) I1149T possibly damaging Het
Prdx2 T C 8: 85,697,196 (GRCm39) S79P probably damaging Het
Rab19 T C 6: 39,360,855 (GRCm39) M1T probably null Het
Retn T G 8: 3,706,908 (GRCm39) F44C probably damaging Het
Rp1 A T 1: 4,313,841 (GRCm39) W507R unknown Het
Rsf1 A C 7: 97,313,765 (GRCm39) probably null Het
Ryr3 C T 2: 112,501,011 (GRCm39) E3561K possibly damaging Het
Scaf1 T A 7: 44,652,716 (GRCm39) Y1220F unknown Het
Sowahc A G 10: 59,058,491 (GRCm39) K209R probably benign Het
Supt20 T A 3: 54,610,504 (GRCm39) I103N probably damaging Het
Tenm4 A G 7: 96,545,367 (GRCm39) E2498G probably benign Het
Tet1 T C 10: 62,674,935 (GRCm39) N1047S probably benign Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tub T A 7: 108,626,265 (GRCm39) I267N probably damaging Het
Uggt1 T C 1: 36,223,507 (GRCm39) E594G probably benign Het
Vmn2r104 T A 17: 20,250,250 (GRCm39) I674F probably damaging Het
Zbed6 T C 1: 133,585,015 (GRCm39) D774G probably damaging Het
Zcchc4 T C 5: 52,953,964 (GRCm39) S215P probably benign Het
Zfc3h1 T G 10: 115,249,916 (GRCm39) S1177A possibly damaging Het
Zfp646 G A 7: 127,481,050 (GRCm39) A1076T probably damaging Het
Zfp735 T A 11: 73,602,023 (GRCm39) Y322* probably null 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
R9111:Eif4e UTSW 3 138,252,122 (GRCm39) missense probably benign 0.00
R9350:Eif4e UTSW 3 138,259,470 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTCACCAGCTGTTCAGTCC -3'
(R):5'- AGGGCTTTTGTGTGTACTCAAC -3'

Sequencing Primer
(F):5'- GGGGCAATTCACATAGGCTTATCC -3'
(R):5'- GCATAACTACCAATTCAAACTTTTGA -3'
Posted On 2022-05-16