Incidental Mutation 'IGL01103:Eif4e'
ID50741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4e
Ensembl Gene ENSMUSG00000028156
Gene Nameeukaryotic translation initiation factor 4E
SynonymsIf4e, eIF-4E
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.951) question?
Stock #IGL01103
Quality Score
Status
Chromosome3
Chromosomal Location138526179-138559696 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 138547651 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029803] [ENSMUST00000196990] [ENSMUST00000200020] [ENSMUST00000200100] [ENSMUST00000200239]
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
Cdh3 A G 8: 106,555,305 Y775C probably damaging Het
Clip2 A G 5: 134,492,350 S980P possibly damaging Het
Ddx51 C T 5: 110,655,863 A375V probably benign Het
Epb41l5 T C 1: 119,567,847 D588G probably benign Het
Fam26f A T 10: 34,126,365 C241S probably benign Het
Fer1l4 C T 2: 156,044,441 probably null Het
Fli1 T C 9: 32,423,940 N399D probably benign Het
Gm20422 T C 8: 69,743,126 T168A possibly damaging Het
Gm5771 T A 6: 41,397,157 V231D probably damaging Het
Kcnk12 C T 17: 87,746,767 G156R probably damaging Het
Kntc1 T A 5: 123,764,220 S309T probably damaging Het
Lcp1 T A 14: 75,227,093 probably null Het
Neo1 A G 9: 58,880,799 C1324R possibly damaging Het
Nin G A 12: 70,056,758 T236I probably damaging Het
Npy6r A G 18: 44,275,518 E2G probably benign Het
Numa1 T C 7: 102,001,571 V136A probably benign Het
Pcdhb8 A G 18: 37,357,200 K644E probably damaging Het
Polr3h T A 15: 81,922,496 N41Y probably damaging Het
Prrx1 T C 1: 163,261,962 T99A probably damaging Het
Rbm18 G A 2: 36,134,172 R26* probably null Het
Repin1 G T 6: 48,597,953 probably benign Het
Rnase1 T C 14: 51,145,622 N92D probably benign Het
Sidt1 A T 16: 44,243,543 C782* probably null Het
Slc27a6 T A 18: 58,556,764 S101T probably benign Het
Stard9 A G 2: 120,701,847 N2862D possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tril A G 6: 53,819,038 Y400H probably damaging Het
Trim34b T C 7: 104,329,899 C118R probably damaging Het
Vwa7 T C 17: 35,024,942 V784A probably damaging Het
Other mutations in Eif4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03328:Eif4e APN 3 138553727 intron probably benign
R1398:Eif4e UTSW 3 138546375 missense probably damaging 0.99
R2010:Eif4e UTSW 3 138555458 missense probably benign 0.08
R3925:Eif4e UTSW 3 138555437 missense probably damaging 1.00
R6026:Eif4e UTSW 3 138550900 missense probably damaging 1.00
R7038:Eif4e UTSW 3 138527182 unclassified probably benign
Posted On2013-06-21