Incidental Mutation 'R5040:Eif4g3'
ID 393159
Institutional Source Beutler Lab
Gene Symbol Eif4g3
Ensembl Gene ENSMUSG00000028760
Gene Name eukaryotic translation initiation factor 4 gamma, 3
Synonyms 4930523M17Rik, G1-419-52, repro8, 1500002J22Rik, eIF4GII
MMRRC Submission 042630-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R5040 (G1)
Quality Score 182
Status Validated
Chromosome 4
Chromosomal Location 137719090-137934397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 137824200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 239 (M239I)
Ref Sequence ENSEMBL: ENSMUSP00000145147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058133] [ENSMUST00000084214] [ENSMUST00000084215] [ENSMUST00000105830] [ENSMUST00000105831] [ENSMUST00000139759] [ENSMUST00000155142] [ENSMUST00000203828]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000058133
AA Change: M94I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059465
Gene: ENSMUSG00000028760
AA Change: M94I

DomainStartEndE-ValueType
low complexity region 113 140 N/A INTRINSIC
low complexity region 167 172 N/A INTRINSIC
PDB:1LJ2|D 174 199 1e-9 PDB
low complexity region 212 228 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084214
AA Change: M74I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: M74I

DomainStartEndE-ValueType
low complexity region 24 43 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
low complexity region 147 152 N/A INTRINSIC
PDB:1LJ2|D 154 179 8e-9 PDB
low complexity region 192 207 N/A INTRINSIC
low complexity region 269 310 N/A INTRINSIC
low complexity region 427 444 N/A INTRINSIC
low complexity region 534 550 N/A INTRINSIC
low complexity region 579 588 N/A INTRINSIC
low complexity region 592 616 N/A INTRINSIC
Blast:MIF4G 617 708 5e-49 BLAST
Blast:MIF4G 722 765 5e-16 BLAST
MIF4G 768 996 1.42e-65 SMART
low complexity region 1086 1109 N/A INTRINSIC
MA3 1215 1327 9.29e-38 SMART
eIF5C 1487 1574 7.92e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000084215
AA Change: M56I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: M56I

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 75 102 N/A INTRINSIC
low complexity region 129 134 N/A INTRINSIC
PDB:1LJ2|D 136 161 8e-9 PDB
low complexity region 174 189 N/A INTRINSIC
low complexity region 251 292 N/A INTRINSIC
low complexity region 409 426 N/A INTRINSIC
low complexity region 516 532 N/A INTRINSIC
low complexity region 561 570 N/A INTRINSIC
low complexity region 574 598 N/A INTRINSIC
Blast:MIF4G 599 690 4e-49 BLAST
Blast:MIF4G 704 747 5e-16 BLAST
MIF4G 750 978 1.42e-65 SMART
low complexity region 1068 1113 N/A INTRINSIC
MA3 1216 1328 9.29e-38 SMART
eIF5C 1488 1575 7.92e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105830
AA Change: M67I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101456
Gene: ENSMUSG00000028760
AA Change: M67I

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
low complexity region 86 113 N/A INTRINSIC
low complexity region 140 145 N/A INTRINSIC
PDB:1LJ2|D 147 172 1e-7 PDB
low complexity region 261 302 N/A INTRINSIC
low complexity region 419 436 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105831
AA Change: M63I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: M63I

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
low complexity region 82 109 N/A INTRINSIC
low complexity region 136 141 N/A INTRINSIC
PDB:1LJ2|D 143 168 8e-9 PDB
low complexity region 181 196 N/A INTRINSIC
low complexity region 258 299 N/A INTRINSIC
low complexity region 416 433 N/A INTRINSIC
low complexity region 523 539 N/A INTRINSIC
low complexity region 568 577 N/A INTRINSIC
low complexity region 581 605 N/A INTRINSIC
Blast:MIF4G 606 697 4e-49 BLAST
Blast:MIF4G 711 754 5e-16 BLAST
MIF4G 757 985 1.42e-65 SMART
low complexity region 1075 1098 N/A INTRINSIC
MA3 1204 1316 9.29e-38 SMART
eIF5C 1476 1563 7.92e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139759
AA Change: M63I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116927
Gene: ENSMUSG00000028760
AA Change: M63I

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
low complexity region 82 109 N/A INTRINSIC
low complexity region 136 141 N/A INTRINSIC
PDB:1LJ2|D 143 168 3e-10 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000155142
AA Change: M67I

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122972
Gene: ENSMUSG00000028760
AA Change: M67I

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
low complexity region 86 113 N/A INTRINSIC
low complexity region 140 145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203828
AA Change: M239I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: M239I

DomainStartEndE-ValueType
low complexity region 41 81 N/A INTRINSIC
low complexity region 193 208 N/A INTRINSIC
low complexity region 258 285 N/A INTRINSIC
low complexity region 312 317 N/A INTRINSIC
PDB:1LJ2|D 319 344 9e-9 PDB
low complexity region 357 372 N/A INTRINSIC
low complexity region 434 475 N/A INTRINSIC
low complexity region 592 609 N/A INTRINSIC
low complexity region 699 715 N/A INTRINSIC
low complexity region 744 753 N/A INTRINSIC
low complexity region 757 781 N/A INTRINSIC
Blast:MIF4G 782 873 9e-49 BLAST
Blast:MIF4G 887 930 5e-16 BLAST
MIF4G 933 1161 6e-68 SMART
coiled coil region 1174 1201 N/A INTRINSIC
low complexity region 1251 1296 N/A INTRINSIC
MA3 1399 1511 3.9e-40 SMART
eIF5C 1671 1758 3.9e-38 SMART
Meta Mutation Damage Score 0.1208 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for an ENU induced allele exhibit decreased testes weight, azoospermia, and arrested male meiosis. Mice homozygous for a gene trapped allele exhibit small testes. [provided by MGI curators]
Allele List at MGI

All alleles(27) : Gene trapped(27)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,669,578 (GRCm39) Q159R probably benign Het
Ap2a1 T C 7: 44,555,228 (GRCm39) I446V possibly damaging Het
Areg A T 5: 91,292,198 (GRCm39) H166L possibly damaging Het
Arhgap15 T C 2: 43,734,825 (GRCm39) probably null Het
Arhgef17 T C 7: 100,526,032 (GRCm39) D874G probably benign Het
Cast T C 13: 74,872,932 (GRCm39) T452A probably damaging Het
Ccdc154 A T 17: 25,383,566 (GRCm39) T208S probably benign Het
Chst11 T A 10: 83,026,780 (GRCm39) L69Q probably benign Het
Clec2d G A 6: 129,161,793 (GRCm39) R142K probably damaging Het
Dis3l2 A T 1: 86,785,059 (GRCm39) I303F probably damaging Het
Dync2h1 A G 9: 6,992,625 (GRCm39) Y3979H probably benign Het
Ehmt1 A T 2: 24,774,316 (GRCm39) C162S probably benign Het
Eif5 A G 12: 111,506,284 (GRCm39) D41G probably damaging Het
Elapor1 T A 3: 108,382,317 (GRCm39) D284V probably damaging Het
Fat1 C T 8: 45,476,417 (GRCm39) A1821V probably damaging Het
Fry G A 5: 150,312,319 (GRCm39) A745T probably damaging Het
Galnt9 T C 5: 110,765,771 (GRCm39) L491P probably damaging Het
Gata3 A G 2: 9,863,326 (GRCm39) L396P probably damaging Het
Gyg1 A G 3: 20,176,823 (GRCm39) probably benign Het
Hhip C A 8: 80,724,235 (GRCm39) V336L probably benign Het
Hipk2 G A 6: 38,707,816 (GRCm39) P660S possibly damaging Het
Hnrnpul1 G A 7: 25,442,414 (GRCm39) T276I possibly damaging Het
Ifnl2 G T 7: 28,208,511 (GRCm39) R147S possibly damaging Het
Ilvbl A G 10: 78,419,152 (GRCm39) D467G probably damaging Het
Kcnh1 A T 1: 192,187,783 (GRCm39) H748L probably benign Het
Lyg1 A C 1: 37,989,892 (GRCm39) probably benign Het
Mak A G 13: 41,183,574 (GRCm39) Y544H possibly damaging Het
Med1 A G 11: 98,046,230 (GRCm39) probably benign Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Myom3 T C 4: 135,516,970 (GRCm39) S847P probably damaging Het
Nprl2 T G 9: 107,419,599 (GRCm39) C9G probably null Het
Or5b125-ps1 T A 19: 13,056,307 (GRCm39) noncoding transcript Het
Pcmtd1 T C 1: 7,190,599 (GRCm39) Y23H probably damaging Het
Pkd1 C A 17: 24,790,234 (GRCm39) H972Q probably benign Het
Rbm26 A G 14: 105,358,452 (GRCm39) I929T probably benign Het
Scrn2 A G 11: 96,921,709 (GRCm39) T60A probably damaging Het
Setdb2 A T 14: 59,653,156 (GRCm39) I398N probably damaging Het
Setx A G 2: 29,029,350 (GRCm39) E206G probably damaging Het
Sez6 T C 11: 77,859,915 (GRCm39) probably null Het
Sh3bp4 C T 1: 89,071,962 (GRCm39) S270L probably damaging Het
Stac3 T C 10: 127,343,993 (GRCm39) I297T probably damaging Het
Styxl2 G A 1: 165,927,914 (GRCm39) T566I probably benign Het
Supv3l1 A T 10: 62,282,844 (GRCm39) V139E possibly damaging Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Tamalin G A 15: 101,126,923 (GRCm39) V134I probably damaging Het
Tcp10c T A 17: 13,588,453 (GRCm39) M344K possibly damaging Het
Tcstv7a C T 13: 120,290,025 (GRCm39) W57* probably null Het
Tmc1 A G 19: 20,801,394 (GRCm39) V502A possibly damaging Het
Tmco4 G T 4: 138,747,477 (GRCm39) G242V probably damaging Het
Trp53bp2 G A 1: 182,272,271 (GRCm39) R460H probably damaging Het
Virma T A 4: 11,528,746 (GRCm39) C1328S probably benign Het
Zfp366 A G 13: 99,364,875 (GRCm39) D12G probably damaging Het
Zfp457 C T 13: 67,440,899 (GRCm39) A463T probably benign Het
Other mutations in Eif4g3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Eif4g3 APN 4 137,847,673 (GRCm39) missense probably benign 0.01
IGL02171:Eif4g3 APN 4 137,853,900 (GRCm39) missense probably benign 0.03
IGL02487:Eif4g3 APN 4 137,930,689 (GRCm39) missense possibly damaging 0.92
IGL02514:Eif4g3 APN 4 137,853,505 (GRCm39) missense possibly damaging 0.87
IGL02622:Eif4g3 APN 4 137,824,677 (GRCm39) splice site probably benign
IGL02725:Eif4g3 APN 4 137,897,782 (GRCm39) splice site probably benign
IGL02735:Eif4g3 APN 4 137,853,522 (GRCm39) missense probably benign 0.40
IGL03008:Eif4g3 APN 4 137,847,699 (GRCm39) missense probably damaging 1.00
IGL03077:Eif4g3 APN 4 137,853,166 (GRCm39) missense probably damaging 1.00
N/A - 535:Eif4g3 UTSW 4 137,847,739 (GRCm39) missense probably damaging 0.98
R0013:Eif4g3 UTSW 4 137,903,159 (GRCm39) missense possibly damaging 0.88
R0193:Eif4g3 UTSW 4 137,873,687 (GRCm39) splice site probably benign
R0240:Eif4g3 UTSW 4 137,897,873 (GRCm39) missense probably damaging 0.98
R0240:Eif4g3 UTSW 4 137,897,873 (GRCm39) missense probably damaging 0.98
R0563:Eif4g3 UTSW 4 137,903,151 (GRCm39) splice site probably benign
R0841:Eif4g3 UTSW 4 137,893,129 (GRCm39) missense probably damaging 1.00
R0884:Eif4g3 UTSW 4 137,879,087 (GRCm39) missense possibly damaging 0.76
R1116:Eif4g3 UTSW 4 137,819,086 (GRCm39) critical splice donor site probably null
R1145:Eif4g3 UTSW 4 137,893,129 (GRCm39) missense probably damaging 1.00
R1145:Eif4g3 UTSW 4 137,893,129 (GRCm39) missense probably damaging 1.00
R1192:Eif4g3 UTSW 4 137,898,497 (GRCm39) missense probably damaging 1.00
R1401:Eif4g3 UTSW 4 137,933,395 (GRCm39) missense probably damaging 0.99
R1535:Eif4g3 UTSW 4 137,824,613 (GRCm39) missense probably damaging 1.00
R1571:Eif4g3 UTSW 4 137,847,719 (GRCm39) missense probably damaging 1.00
R1576:Eif4g3 UTSW 4 137,824,181 (GRCm39) missense probably damaging 0.99
R1607:Eif4g3 UTSW 4 137,853,874 (GRCm39) missense probably benign 0.00
R1618:Eif4g3 UTSW 4 137,933,369 (GRCm39) missense probably damaging 1.00
R1793:Eif4g3 UTSW 4 137,898,442 (GRCm39) missense probably damaging 1.00
R1823:Eif4g3 UTSW 4 137,907,802 (GRCm39) missense probably benign 0.37
R1857:Eif4g3 UTSW 4 137,903,187 (GRCm39) missense possibly damaging 0.67
R1907:Eif4g3 UTSW 4 137,885,726 (GRCm39) missense probably damaging 1.00
R2041:Eif4g3 UTSW 4 137,832,617 (GRCm39) splice site probably benign
R2106:Eif4g3 UTSW 4 137,810,230 (GRCm39) start gained probably benign
R2124:Eif4g3 UTSW 4 137,912,053 (GRCm39) missense probably damaging 1.00
R2301:Eif4g3 UTSW 4 137,899,970 (GRCm39) missense probably damaging 1.00
R2519:Eif4g3 UTSW 4 137,824,629 (GRCm39) missense probably benign 0.37
R3033:Eif4g3 UTSW 4 137,830,721 (GRCm39) missense probably damaging 1.00
R3870:Eif4g3 UTSW 4 137,824,211 (GRCm39) missense probably damaging 0.98
R4542:Eif4g3 UTSW 4 137,930,728 (GRCm39) missense probably damaging 0.99
R4582:Eif4g3 UTSW 4 137,898,556 (GRCm39) missense probably damaging 1.00
R4607:Eif4g3 UTSW 4 137,853,769 (GRCm39) missense probably benign 0.03
R4608:Eif4g3 UTSW 4 137,853,769 (GRCm39) missense probably benign 0.03
R4658:Eif4g3 UTSW 4 137,933,443 (GRCm39) missense probably damaging 1.00
R4736:Eif4g3 UTSW 4 137,925,408 (GRCm39) missense probably benign 0.01
R4739:Eif4g3 UTSW 4 137,925,408 (GRCm39) missense probably benign 0.01
R4739:Eif4g3 UTSW 4 137,910,510 (GRCm39) missense possibly damaging 0.79
R4740:Eif4g3 UTSW 4 137,925,408 (GRCm39) missense probably benign 0.01
R4760:Eif4g3 UTSW 4 137,811,629 (GRCm39) missense possibly damaging 0.46
R4825:Eif4g3 UTSW 4 137,921,392 (GRCm39) missense probably benign
R4826:Eif4g3 UTSW 4 137,905,256 (GRCm39) missense possibly damaging 0.95
R4941:Eif4g3 UTSW 4 137,897,876 (GRCm39) missense probably damaging 1.00
R5070:Eif4g3 UTSW 4 137,873,610 (GRCm39) missense probably benign 0.00
R5155:Eif4g3 UTSW 4 137,854,054 (GRCm39) missense probably benign 0.36
R5226:Eif4g3 UTSW 4 137,824,105 (GRCm39) missense possibly damaging 0.93
R5229:Eif4g3 UTSW 4 137,824,105 (GRCm39) missense possibly damaging 0.93
R5303:Eif4g3 UTSW 4 137,853,873 (GRCm39) missense probably benign 0.04
R5369:Eif4g3 UTSW 4 137,910,645 (GRCm39) missense possibly damaging 0.87
R5394:Eif4g3 UTSW 4 137,830,709 (GRCm39) splice site probably null
R5665:Eif4g3 UTSW 4 137,853,900 (GRCm39) missense probably benign 0.03
R5678:Eif4g3 UTSW 4 137,879,053 (GRCm39) missense probably damaging 0.99
R5695:Eif4g3 UTSW 4 137,890,744 (GRCm39) splice site probably null
R5704:Eif4g3 UTSW 4 137,918,003 (GRCm39) missense probably damaging 1.00
R5924:Eif4g3 UTSW 4 137,929,237 (GRCm39) missense probably damaging 1.00
R6214:Eif4g3 UTSW 4 137,785,314 (GRCm39) missense probably damaging 0.99
R6278:Eif4g3 UTSW 4 137,915,394 (GRCm39) missense possibly damaging 0.82
R6519:Eif4g3 UTSW 4 137,721,319 (GRCm39) missense probably benign
R6659:Eif4g3 UTSW 4 137,905,243 (GRCm39) missense probably damaging 1.00
R6720:Eif4g3 UTSW 4 137,903,143 (GRCm39) splice site probably null
R6812:Eif4g3 UTSW 4 137,830,687 (GRCm39) missense probably damaging 1.00
R6922:Eif4g3 UTSW 4 137,824,646 (GRCm39) missense probably damaging 1.00
R7175:Eif4g3 UTSW 4 137,853,526 (GRCm39) missense probably damaging 1.00
R7176:Eif4g3 UTSW 4 137,898,497 (GRCm39) missense probably damaging 1.00
R7598:Eif4g3 UTSW 4 137,921,435 (GRCm39) missense probably benign 0.02
R7618:Eif4g3 UTSW 4 137,898,429 (GRCm39) missense probably damaging 1.00
R7805:Eif4g3 UTSW 4 137,873,665 (GRCm39) missense probably benign 0.00
R7935:Eif4g3 UTSW 4 137,824,082 (GRCm39) missense probably damaging 1.00
R7983:Eif4g3 UTSW 4 137,878,904 (GRCm39) missense probably benign 0.00
R8261:Eif4g3 UTSW 4 137,898,429 (GRCm39) missense possibly damaging 0.46
R8371:Eif4g3 UTSW 4 137,824,156 (GRCm39) missense probably damaging 1.00
R8499:Eif4g3 UTSW 4 137,893,239 (GRCm39) missense probably damaging 1.00
R8670:Eif4g3 UTSW 4 137,885,823 (GRCm39) critical splice donor site probably null
R8672:Eif4g3 UTSW 4 137,853,823 (GRCm39) missense possibly damaging 0.75
R8744:Eif4g3 UTSW 4 137,721,372 (GRCm39) small deletion probably benign
R8767:Eif4g3 UTSW 4 137,930,779 (GRCm39) missense probably damaging 0.99
R8771:Eif4g3 UTSW 4 137,907,848 (GRCm39) nonsense probably null
R8989:Eif4g3 UTSW 4 137,912,059 (GRCm39) missense probably damaging 1.00
R9292:Eif4g3 UTSW 4 137,921,382 (GRCm39) missense possibly damaging 0.82
R9294:Eif4g3 UTSW 4 137,917,968 (GRCm39) missense probably damaging 0.98
R9607:Eif4g3 UTSW 4 137,893,045 (GRCm39) missense probably benign 0.28
R9617:Eif4g3 UTSW 4 137,824,190 (GRCm39) missense probably damaging 0.99
RF008:Eif4g3 UTSW 4 137,903,235 (GRCm39) missense probably damaging 0.98
X0067:Eif4g3 UTSW 4 137,890,930 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCCAAGTAGATGAGTTTAGTAGTGG -3'
(R):5'- AAGAGGTCTCCAGCAACGTG -3'

Sequencing Primer
(F):5'- TAGATGAGTTTAGTAGTGGGGGAAG -3'
(R):5'- CTCCAGCAACGTGTGTATTTG -3'
Posted On 2016-06-15