Incidental Mutation 'IGL01103:Eif4e'
ID 50741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4e
Ensembl Gene ENSMUSG00000028156
Gene Name eukaryotic translation initiation factor 4E
Synonyms If4e, eIF-4E
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL01103
Quality Score
Status
Chromosome 3
Chromosomal Location 138231952-138265457 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 138253412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029803] [ENSMUST00000196990] [ENSMUST00000200020] [ENSMUST00000200100] [ENSMUST00000200239]
AlphaFold P63073
Predicted Effect probably benign
Transcript: ENSMUST00000029803
SMART Domains Protein: ENSMUSP00000029803
Gene: ENSMUSG00000028156

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 noncoding transcript
Transcript: ENSMUST00000198252
Predicted Effect probably benign
Transcript: ENSMUST00000200020
SMART Domains Protein: ENSMUSP00000143690
Gene: ENSMUSG00000028156

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 benign
Transcript: ENSMUST00000200239
SMART Domains Protein: ENSMUSP00000143481
Gene: ENSMUSG00000028156

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
Pfam:IF4E 38 79 5.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calhm6 A T 10: 34,002,361 (GRCm39) C241S probably benign Het
Cdh3 A G 8: 107,281,937 (GRCm39) Y775C probably damaging Het
Clip2 A G 5: 134,521,204 (GRCm39) S980P possibly damaging Het
Ddx51 C T 5: 110,803,729 (GRCm39) A375V probably benign Het
Epb41l5 T C 1: 119,495,577 (GRCm39) D588G probably benign Het
Fer1l4 C T 2: 155,886,361 (GRCm39) probably null Het
Fli1 T C 9: 32,335,236 (GRCm39) N399D probably benign Het
Gm20422 T C 8: 70,195,776 (GRCm39) T168A possibly damaging Het
Kcnk12 C T 17: 88,054,195 (GRCm39) G156R probably damaging Het
Kntc1 T A 5: 123,902,283 (GRCm39) S309T probably damaging Het
Lcp1 T A 14: 75,464,533 (GRCm39) probably null Het
Neo1 A G 9: 58,788,082 (GRCm39) C1324R possibly damaging Het
Nin G A 12: 70,103,532 (GRCm39) T236I probably damaging Het
Npy6r A G 18: 44,408,585 (GRCm39) E2G probably benign Het
Numa1 T C 7: 101,650,778 (GRCm39) V136A probably benign Het
Pcdhb8 A G 18: 37,490,253 (GRCm39) K644E probably damaging Het
Polr3h T A 15: 81,806,697 (GRCm39) N41Y probably damaging Het
Prrx1 T C 1: 163,089,531 (GRCm39) T99A probably damaging Het
Prss1l T A 6: 41,374,091 (GRCm39) V231D probably damaging Het
Rbm18 G A 2: 36,024,184 (GRCm39) R26* probably null Het
Repin1 G T 6: 48,574,887 (GRCm39) probably benign Het
Rnase1 T C 14: 51,383,079 (GRCm39) N92D probably benign Het
Sidt1 A T 16: 44,063,906 (GRCm39) C782* probably null Het
Slc27a6 T A 18: 58,689,836 (GRCm39) S101T probably benign Het
Stard9 A G 2: 120,532,328 (GRCm39) N2862D possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tril A G 6: 53,796,023 (GRCm39) Y400H probably damaging Het
Trim34b T C 7: 103,979,106 (GRCm39) C118R probably damaging Het
Vwa7 T C 17: 35,243,918 (GRCm39) V784A probably damaging Het
Other mutations in Eif4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9414:Eif4e UTSW 3 138,253,495 (GRCm39) missense probably benign 0.01
Posted On 2013-06-21