Incidental Mutation 'IGL02502:Eif4g2'
ID 296079
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02502
Quality Score
Status
Chromosome 7
Chromosomal Location 110667192-110682237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110680748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 3 (S3G)
Ref Sequence ENSEMBL: ENSMUSP00000125098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159305] [ENSMUST00000160132] [ENSMUST00000160966] [ENSMUST00000161051] [ENSMUST00000162415]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000159305
AA Change: S3G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125098
Gene: ENSMUSG00000005610
AA Change: S3G

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 possibly damaging
Transcript: ENSMUST00000160132
AA Change: S3G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124914
Gene: ENSMUSG00000005610
AA Change: S3G

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 unknown
Transcript: ENSMUST00000160966
AA Change: S3G
Predicted Effect possibly damaging
Transcript: ENSMUST00000161051
AA Change: S3G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: S3G

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: ENSMUST00000161682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162394
Predicted Effect possibly damaging
Transcript: ENSMUST00000162415
AA Change: S3G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: S3G

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: ENSMUST00000209597
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,917,804 (GRCm39) N216S probably damaging Het
Akap12 A G 10: 4,303,163 (GRCm39) D96G probably damaging Het
Akna A G 4: 63,286,440 (GRCm39) V1353A probably benign Het
Ambra1 A G 2: 91,730,877 (GRCm39) D914G probably damaging Het
Ap1s3 A G 1: 79,601,439 (GRCm39) V84A possibly damaging Het
Arhgef6 T C X: 56,325,623 (GRCm39) E282G probably damaging Het
C2cd2 G T 16: 97,677,590 (GRCm39) S378Y possibly damaging Het
Cd101 C A 3: 100,919,141 (GRCm39) A654S probably damaging Het
Cep295 A C 9: 15,262,209 (GRCm39) probably benign Het
Csn1s1 A G 5: 87,828,784 (GRCm39) I283V probably benign Het
Cst3 A G 2: 148,717,065 (GRCm39) probably benign Het
Cyp2b9 T C 7: 25,887,239 (GRCm39) probably null Het
Dffb A G 4: 154,050,073 (GRCm39) probably benign Het
Dnah10 A G 5: 124,898,351 (GRCm39) Y3711C probably damaging Het
Erbb3 C T 10: 128,406,153 (GRCm39) R1088H probably benign Het
Evpl T C 11: 116,113,544 (GRCm39) D1382G probably damaging Het
Fam168a A G 7: 100,473,417 (GRCm39) D102G probably damaging Het
Fbxo7 A G 10: 85,869,161 (GRCm39) Y284C probably damaging Het
G6pd2 T C 5: 61,966,971 (GRCm39) Y249H probably damaging Het
Gm1123 A T 9: 98,891,443 (GRCm39) Y335* probably null Het
Gm5624 C T 14: 44,797,296 (GRCm39) probably null Het
Hectd1 A T 12: 51,844,635 (GRCm39) M536K possibly damaging Het
Ikbkg T A X: 73,487,433 (GRCm39) V334E probably benign Het
Ipo7 T C 7: 109,650,257 (GRCm39) L769P probably damaging Het
Jmjd1c A T 10: 67,061,640 (GRCm39) K1331I probably benign Het
Krt32 T C 11: 99,978,749 (GRCm39) K102E probably damaging Het
Lrrc34 A T 3: 30,699,394 (GRCm39) N20K probably benign Het
Lrrc47 A G 4: 154,100,471 (GRCm39) E349G probably benign Het
Mdn1 A G 4: 32,670,579 (GRCm39) I415V possibly damaging Het
Myh10 A G 11: 68,705,198 (GRCm39) probably null Het
Nbeal2 A G 9: 110,462,836 (GRCm39) S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 (GRCm39) probably benign Het
Nherf4 G A 9: 44,160,948 (GRCm39) A206V probably benign Het
Notch3 A T 17: 32,377,252 (GRCm39) C246* probably null Het
Nr3c2 A G 8: 77,969,143 (GRCm39) Y976C probably damaging Het
Or51b17 A G 7: 103,542,696 (GRCm39) V82A probably damaging Het
Or52n4b T A 7: 108,143,846 (GRCm39) M36K probably damaging Het
Or5b122 A G 19: 13,563,112 (GRCm39) Y105C probably damaging Het
P2rx7 C T 5: 122,819,050 (GRCm39) R491C possibly damaging Het
Phex T A X: 155,966,823 (GRCm39) Y625F possibly damaging Het
Pkhd1 T C 1: 20,462,389 (GRCm39) D2055G probably damaging Het
Pmm2 T C 16: 8,463,227 (GRCm39) probably benign Het
Prdm15 T C 16: 97,640,539 (GRCm39) D16G probably damaging Het
Prune2 T A 19: 17,101,245 (GRCm39) C2250S probably benign Het
Rasgef1a T A 6: 118,057,443 (GRCm39) F48Y probably benign Het
Rhoq T C 17: 87,271,077 (GRCm39) V15A probably damaging Het
Rnf216 G A 5: 143,054,622 (GRCm39) A585V probably damaging Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Shprh T A 10: 11,070,101 (GRCm39) D1492E possibly damaging Het
Slc22a26 A T 19: 7,768,125 (GRCm39) probably null Het
Tek T G 4: 94,741,818 (GRCm39) probably null Het
Tenm3 T C 8: 48,741,051 (GRCm39) E782G probably damaging Het
Trmt5 A G 12: 73,328,001 (GRCm39) C401R probably benign Het
Tspear T G 10: 77,688,792 (GRCm39) probably benign Het
Ubr5 G A 15: 38,030,933 (GRCm39) T414I probably benign Het
Vcl A T 14: 21,069,453 (GRCm39) T710S probably damaging Het
Vmn2r25 A T 6: 123,816,392 (GRCm39) D396E probably damaging Het
Wtip A G 7: 33,818,094 (GRCm39) probably null Het
Zap70 A G 1: 36,817,887 (GRCm39) probably benign 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
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
R2318:Eif4g2 UTSW 7 110,673,065 (GRCm39) missense possibly damaging 0.78
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
Posted On 2015-04-16