Incidental Mutation 'R2318:Eif4g2'
ID 245557
Institutional Source Beutler Lab
Gene Symbol Eif4g2
Ensembl Gene ENSMUSG00000005610
Gene Name eukaryotic translation initiation factor 4, gamma 2
Synonyms DAP-5, Nat1, E130105L11Rik, Natm1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2318 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 110667192-110682237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110673065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 876 (F876L)
Ref Sequence ENSEMBL: ENSMUSP00000124551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160132] [ENSMUST00000161051] [ENSMUST00000162415]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159465
Predicted Effect probably benign
Transcript: ENSMUST00000160132
SMART Domains Protein: ENSMUSP00000124914
Gene: ENSMUSG00000005610

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 61 69 N/A INTRINSIC
Pfam:MIF4G 78 152 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160552
Predicted Effect possibly damaging
Transcript: ENSMUST00000161051
AA Change: F838L

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: F838L

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 61 69 N/A INTRINSIC
MIF4G 78 308 2.08e-58 SMART
MA3 505 618 4.76e-35 SMART
low complexity region 634 646 N/A INTRINSIC
low complexity region 682 704 N/A INTRINSIC
low complexity region 760 771 N/A INTRINSIC
eIF5C 775 861 5.43e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161158
Predicted Effect possibly damaging
Transcript: ENSMUST00000162415
AA Change: F876L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: F876L

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 61 69 N/A INTRINSIC
MIF4G 78 308 2.08e-58 SMART
low complexity region 441 453 N/A INTRINSIC
Blast:MIF4G 454 490 4e-14 BLAST
MA3 543 656 4.76e-35 SMART
low complexity region 672 684 N/A INTRINSIC
low complexity region 720 742 N/A INTRINSIC
low complexity region 798 809 N/A INTRINSIC
eIF5C 813 899 5.43e-34 SMART
Predicted Effect unknown
Transcript: ENSMUST00000163014
AA Change: F102L
SMART Domains Protein: ENSMUSP00000123811
Gene: ENSMUSG00000005610
AA Change: F102L

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Pfam:W2 52 122 2.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161790
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G, that contains the binding sites for eIF4A and eIF3; eIF4G in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. Transgene expression of the apolipoprotein B mRNA-editing enzyme (APOBEC-1) causes extensive editing of this mRNA, which could contribute to the potent oncogenesis induced by overexpression of APOBEC-1. In vitro and in vivo studies in human indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. This also appears to be true for mouse. Two alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation fail to undergo gastrulation and die by E11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 G A 8: 14,978,855 (GRCm39) A41T probably damaging Het
Car15 T C 16: 17,654,463 (GRCm39) M158V probably benign Het
Cinp C A 12: 110,840,443 (GRCm39) W113L probably damaging Het
Col4a3 T A 1: 82,626,290 (GRCm39) probably null Het
Csnk2b T C 17: 35,337,037 (GRCm39) Y101C possibly damaging Het
Ddb1 C T 19: 10,603,992 (GRCm39) R900C probably damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
H4c4 A G 13: 23,765,739 (GRCm39) Y52C probably damaging Het
Mast1 T C 8: 85,647,754 (GRCm39) D540G probably damaging Het
Mis18bp1 C T 12: 65,187,617 (GRCm39) V829M possibly damaging Het
Mtus2 C T 5: 148,043,892 (GRCm39) R827* probably null Het
Nlrp9a G A 7: 26,273,277 (GRCm39) V860M probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prr14l T C 5: 32,987,422 (GRCm39) E691G probably benign Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Sanbr A G 11: 23,538,701 (GRCm39) Y66H probably damaging Het
Slc10a4-ps T C 5: 72,743,638 (GRCm39) T27A probably benign Het
Smc2 T C 4: 52,446,030 (GRCm39) S133P probably damaging Het
Sstr1 T A 12: 58,259,562 (GRCm39) S62T possibly damaging Het
Thsd7a T C 6: 12,405,146 (GRCm39) Y766C probably damaging Het
Timm44 A G 8: 4,318,307 (GRCm39) V129A probably benign Het
Tinag T C 9: 76,952,693 (GRCm39) Y97C probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubap2 A G 4: 41,251,542 (GRCm39) V30A probably damaging Het
Other mutations in Eif4g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Eif4g2 APN 7 110,673,920 (GRCm39) missense possibly damaging 0.91
IGL01402:Eif4g2 APN 7 110,676,234 (GRCm39) missense possibly damaging 0.94
IGL02502:Eif4g2 APN 7 110,680,748 (GRCm39) missense probably damaging 0.98
IGL02538:Eif4g2 APN 7 110,678,523 (GRCm39) missense probably benign 0.03
IGL02717:Eif4g2 APN 7 110,677,320 (GRCm39) missense probably benign 0.45
R0547:Eif4g2 UTSW 7 110,677,500 (GRCm39) missense probably damaging 1.00
R0614:Eif4g2 UTSW 7 110,676,430 (GRCm39) critical splice donor site probably null
R1351:Eif4g2 UTSW 7 110,673,287 (GRCm39) missense probably damaging 1.00
R1764:Eif4g2 UTSW 7 110,673,694 (GRCm39) missense probably damaging 1.00
R2009:Eif4g2 UTSW 7 110,673,405 (GRCm39) missense probably benign 0.01
R2382:Eif4g2 UTSW 7 110,674,253 (GRCm39) missense probably benign 0.00
R2986:Eif4g2 UTSW 7 110,677,690 (GRCm39) missense probably damaging 0.99
R4012:Eif4g2 UTSW 7 110,673,358 (GRCm39) missense possibly damaging 0.86
R4592:Eif4g2 UTSW 7 110,677,509 (GRCm39) missense probably damaging 1.00
R4785:Eif4g2 UTSW 7 110,676,003 (GRCm39) missense probably damaging 0.99
R5037:Eif4g2 UTSW 7 110,676,239 (GRCm39) missense probably benign 0.03
R5627:Eif4g2 UTSW 7 110,673,446 (GRCm39) missense probably benign 0.32
R5988:Eif4g2 UTSW 7 110,676,437 (GRCm39) missense probably benign 0.11
R6229:Eif4g2 UTSW 7 110,676,920 (GRCm39) splice site probably null
R8122:Eif4g2 UTSW 7 110,677,760 (GRCm39) missense possibly damaging 0.93
R8218:Eif4g2 UTSW 7 110,673,639 (GRCm39) missense possibly damaging 0.62
R8711:Eif4g2 UTSW 7 110,673,127 (GRCm39) missense probably damaging 1.00
R8726:Eif4g2 UTSW 7 110,676,629 (GRCm39) missense probably damaging 1.00
R9156:Eif4g2 UTSW 7 110,672,969 (GRCm39) missense
R9216:Eif4g2 UTSW 7 110,673,415 (GRCm39) missense probably benign 0.08
R9277:Eif4g2 UTSW 7 110,674,066 (GRCm39) missense probably damaging 0.98
R9334:Eif4g2 UTSW 7 110,674,031 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CTTTAACCATGCAAACAGCTCTATC -3'
(R):5'- GCTTCCCAAAAGGTGAGGTG -3'

Sequencing Primer
(F):5'- GCTCTATCACCAAAATTGTCACC -3'
(R):5'- TCCCAAAAGGTGAGGTGACTGTTC -3'
Posted On 2014-10-30