Incidental Mutation 'R0614:Eif4g2'
ID 54946
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
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 111067750-111083030 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 111077223 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159305] [ENSMUST00000160132] [ENSMUST00000160966] [ENSMUST00000161051] [ENSMUST00000161051] [ENSMUST00000162415] [ENSMUST00000162415]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158323
Predicted Effect probably benign
Transcript: ENSMUST00000159305
SMART Domains Protein: ENSMUSP00000125098
Gene: ENSMUSG00000005610

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
Blast:MIF4G 32 83 4e-22 BLAST
SCOP:d1hu3a_ 67 102 9e-13 SMART
PDB:4IUL|B 70 102 3e-15 PDB
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 probably benign
Transcript: ENSMUST00000160966
Predicted Effect probably null
Transcript: ENSMUST00000161051
SMART Domains Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610

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 probably null
Transcript: ENSMUST00000161051
SMART Domains Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610

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 noncoding transcript
Transcript: ENSMUST00000161682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161736
Predicted Effect probably null
Transcript: ENSMUST00000162415
SMART Domains Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610

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 probably null
Transcript: ENSMUST00000162415
SMART Domains Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610

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 noncoding transcript
Transcript: ENSMUST00000162394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161790
Predicted Effect probably benign
Transcript: ENSMUST00000163014
SMART Domains Protein: ENSMUSP00000123811
Gene: ENSMUSG00000005610

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
Pfam:W2 52 122 2.2e-12 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,192,663 (GRCm38) T137I probably benign Het
3110082I17Rik C T 5: 139,364,031 (GRCm38) V88I possibly damaging Het
4930453N24Rik T A 16: 64,766,614 (GRCm38) Q249L probably damaging Het
Akap2 C A 4: 57,856,720 (GRCm38) A926E probably benign Het
Ap1g2 C T 14: 55,099,773 (GRCm38) V702I probably benign Het
Armcx5 G A X: 135,746,815 (GRCm38) E547K probably damaging Het
Asah2 C A 19: 32,016,728 (GRCm38) V406L probably damaging Het
Atp8b1 T C 18: 64,533,587 (GRCm38) probably benign Het
Axl C A 7: 25,774,163 (GRCm38) R346L probably benign Het
Baz1a G A 12: 54,941,519 (GRCm38) R282* probably null Het
Card14 A G 11: 119,322,827 (GRCm38) N200S probably benign Het
Cdt1 A G 8: 122,568,137 (GRCm38) T28A probably benign Het
Cep250 C T 2: 155,970,097 (GRCm38) Q438* probably null Het
Dapk1 C A 13: 60,718,132 (GRCm38) P181Q probably damaging Het
Dnah17 C T 11: 118,070,568 (GRCm38) probably benign Het
Dph7 T C 2: 24,968,956 (GRCm38) probably null Het
Edc4 A T 8: 105,889,396 (GRCm38) D801V possibly damaging Het
Eml2 T C 7: 19,202,591 (GRCm38) L531P probably damaging Het
Ephb2 T C 4: 136,673,365 (GRCm38) Y533C probably benign Het
Fcho1 C T 8: 71,712,560 (GRCm38) A418T probably benign Het
Fsip2 A G 2: 82,977,533 (GRCm38) K1399E probably benign Het
Hcls1 A G 16: 36,962,625 (GRCm38) D446G probably damaging Het
Hif1a T A 12: 73,945,631 (GRCm38) N787K probably damaging Het
Ints14 T C 9: 64,964,433 (GRCm38) S18P probably benign Het
Kalrn A T 16: 33,993,670 (GRCm38) probably benign Het
Llgl2 T A 11: 115,850,267 (GRCm38) D502E probably damaging Het
Lrwd1 A G 5: 136,123,500 (GRCm38) V570A probably damaging Het
Mga C G 2: 119,964,466 (GRCm38) P2877R probably damaging Het
Mvd T C 8: 122,436,553 (GRCm38) I313V probably benign Het
Myo15b C A 11: 115,882,913 (GRCm38) P270T probably damaging Het
Naip1 C A 13: 100,444,200 (GRCm38) V180L probably benign Het
Ofd1 T C X: 166,435,540 (GRCm38) probably benign Het
Olfr1233 T A 2: 89,339,985 (GRCm38) I106F probably damaging Het
Olfr1423 A T 19: 12,036,565 (GRCm38) M59K possibly damaging Het
Olfr348 T A 2: 36,786,693 (GRCm38) L56H probably damaging Het
Otogl G A 10: 107,798,355 (GRCm38) P1420S probably benign Het
Pcnt C T 10: 76,420,316 (GRCm38) V697M probably damaging Het
Plekha7 A T 7: 116,154,645 (GRCm38) Y702* probably null Het
Plxnb3 A G X: 73,764,358 (GRCm38) probably benign Het
Ptgis A G 2: 167,206,882 (GRCm38) F405L probably damaging Het
Ptprk C T 10: 28,075,136 (GRCm38) P19L probably damaging Het
Ptprt A G 2: 161,812,120 (GRCm38) V530A possibly damaging Het
Rasgrp4 A T 7: 29,145,851 (GRCm38) Y299F probably damaging Het
Slc39a11 T A 11: 113,523,626 (GRCm38) probably null Het
Slc6a15 T A 10: 103,404,352 (GRCm38) L312* probably null Het
Slf1 T A 13: 77,049,114 (GRCm38) M794L probably benign Het
Sntg2 G A 12: 30,257,978 (GRCm38) T236I possibly damaging Het
Stau1 T C 2: 166,950,806 (GRCm38) Y413C probably damaging Het
Syne2 T G 12: 75,912,353 (GRCm38) probably null Het
Tas2r104 A T 6: 131,685,202 (GRCm38) N181K probably damaging Het
Tmem81 G A 1: 132,507,731 (GRCm38) V92I probably benign Het
Trap1 A G 16: 4,060,751 (GRCm38) probably benign Het
Trip12 T C 1: 84,757,761 (GRCm38) E905G probably damaging Het
Usp2 C T 9: 44,092,492 (GRCm38) R494* probably null Het
Vps13a G T 19: 16,652,694 (GRCm38) R2692S probably damaging Het
Zfhx3 T C 8: 108,948,539 (GRCm38) S2074P probably benign Het
Zfhx3 C G 8: 108,948,967 (GRCm38) Y2216* probably null Het
Zfp423 A G 8: 87,782,114 (GRCm38) F409S probably damaging Het
Zfp472 G A 17: 32,977,934 (GRCm38) E328K possibly damaging Het
Zfp619 T A 7: 39,537,675 (GRCm38) M1043K possibly damaging Het
Zfp940 T C 7: 29,846,246 (GRCm38) I79V probably benign Het
Other mutations in Eif4g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Eif4g2 APN 7 111,074,713 (GRCm38) missense possibly damaging 0.91
IGL01402:Eif4g2 APN 7 111,077,027 (GRCm38) missense possibly damaging 0.94
IGL02502:Eif4g2 APN 7 111,081,541 (GRCm38) missense probably damaging 0.98
IGL02538:Eif4g2 APN 7 111,079,316 (GRCm38) missense probably benign 0.03
IGL02717:Eif4g2 APN 7 111,078,113 (GRCm38) missense probably benign 0.45
R0547:Eif4g2 UTSW 7 111,078,293 (GRCm38) missense probably damaging 1.00
R1351:Eif4g2 UTSW 7 111,074,080 (GRCm38) missense probably damaging 1.00
R1764:Eif4g2 UTSW 7 111,074,487 (GRCm38) missense probably damaging 1.00
R2009:Eif4g2 UTSW 7 111,074,198 (GRCm38) missense probably benign 0.01
R2318:Eif4g2 UTSW 7 111,073,858 (GRCm38) missense possibly damaging 0.78
R2382:Eif4g2 UTSW 7 111,075,046 (GRCm38) missense probably benign 0.00
R2986:Eif4g2 UTSW 7 111,078,483 (GRCm38) missense probably damaging 0.99
R4012:Eif4g2 UTSW 7 111,074,151 (GRCm38) missense possibly damaging 0.86
R4592:Eif4g2 UTSW 7 111,078,302 (GRCm38) missense probably damaging 1.00
R4785:Eif4g2 UTSW 7 111,076,796 (GRCm38) missense probably damaging 0.99
R5037:Eif4g2 UTSW 7 111,077,032 (GRCm38) missense probably benign 0.03
R5627:Eif4g2 UTSW 7 111,074,239 (GRCm38) missense probably benign 0.32
R5988:Eif4g2 UTSW 7 111,077,230 (GRCm38) missense probably benign 0.11
R6229:Eif4g2 UTSW 7 111,077,713 (GRCm38) splice site probably null
R8122:Eif4g2 UTSW 7 111,078,553 (GRCm38) missense possibly damaging 0.93
R8218:Eif4g2 UTSW 7 111,074,432 (GRCm38) missense possibly damaging 0.62
R8711:Eif4g2 UTSW 7 111,073,920 (GRCm38) missense probably damaging 1.00
R8726:Eif4g2 UTSW 7 111,077,422 (GRCm38) missense probably damaging 1.00
R9156:Eif4g2 UTSW 7 111,073,762 (GRCm38) missense
R9216:Eif4g2 UTSW 7 111,074,208 (GRCm38) missense probably benign 0.08
R9277:Eif4g2 UTSW 7 111,074,859 (GRCm38) missense probably damaging 0.98
R9334:Eif4g2 UTSW 7 111,074,824 (GRCm38) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GAAGAAGTCATTCCTCCCTTGAGCC -3'
(R):5'- TGCCAGCCAGGATTCGTTTCCTAC -3'

Sequencing Primer
(F):5'- TCCCTTGAGCCATAGGAGC -3'
(R):5'- TGCAGGTAAGATGGTTTTTACAG -3'
Posted On 2013-07-11