Incidental Mutation 'R5226:Eif4g3'
ID 402603
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 042799-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # R5226 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 137719090-137934397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 137824105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 36 (P36T)
Ref Sequence ENSEMBL: ENSMUSP00000101456 (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 possibly damaging
Transcript: ENSMUST00000058133
AA Change: P63T

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059465
Gene: ENSMUSG00000028760
AA Change: P63T

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 possibly damaging
Transcript: ENSMUST00000084214
AA Change: P43T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: P43T

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 possibly damaging
Transcript: ENSMUST00000084215
AA Change: P25T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: P25T

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 possibly damaging
Transcript: ENSMUST00000105830
AA Change: P36T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101456
Gene: ENSMUSG00000028760
AA Change: P36T

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 possibly damaging
Transcript: ENSMUST00000105831
AA Change: P32T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: P32T

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 possibly damaging
Transcript: ENSMUST00000139759
AA Change: P32T

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116927
Gene: ENSMUSG00000028760
AA Change: P32T

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 probably benign
Transcript: ENSMUST00000155142
AA Change: P36T

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122972
Gene: ENSMUSG00000028760
AA Change: P36T

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 possibly damaging
Transcript: ENSMUST00000203828
AA Change: P208T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: P208T

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 0.0824 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (66/66)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,056,706 (GRCm39) K98E possibly damaging Het
4933414I15Rik A T 11: 50,833,416 (GRCm39) M62K unknown Het
Akr1d1 T A 6: 37,512,949 (GRCm39) probably null Het
Ankrd63 T C 2: 118,533,736 (GRCm39) probably benign Het
Atad5 T C 11: 79,985,888 (GRCm39) V325A probably damaging Het
Atp13a5 G T 16: 29,067,031 (GRCm39) N1025K probably damaging Het
Atrnl1 G T 19: 57,638,767 (GRCm39) V302L probably benign Het
Bend7 C A 2: 4,757,789 (GRCm39) S277* probably null Het
Btnl7-ps A T 17: 34,752,261 (GRCm39) noncoding transcript Het
Cbx4 T C 11: 118,972,754 (GRCm39) Y207C probably damaging Het
Ctla2b C T 13: 61,044,146 (GRCm39) W63* probably null Het
Cux1 T C 5: 136,399,027 (GRCm39) T170A probably benign Het
Cyp3a57 T C 5: 145,302,507 (GRCm39) V101A probably benign Het
Dao A T 5: 114,159,094 (GRCm39) T267S probably benign Het
Dsp A G 13: 38,370,746 (GRCm39) D883G probably damaging Het
Dynlt4 A G 4: 116,985,290 (GRCm39) T38A possibly damaging Het
Elf3 G A 1: 135,184,977 (GRCm39) L70F probably benign Het
Epb41l4a C T 18: 33,943,366 (GRCm39) D510N probably damaging Het
Gcn1 T C 5: 115,726,126 (GRCm39) S594P probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Gpr132 T C 12: 112,815,768 (GRCm39) T353A probably benign Het
Kntc1 A G 5: 123,932,235 (GRCm39) D1343G probably benign Het
L3mbtl4 T A 17: 69,071,717 (GRCm39) probably null Het
Lrit2 A G 14: 36,794,310 (GRCm39) E458G probably damaging Het
Man1c1 A T 4: 134,305,680 (GRCm39) I348N probably damaging Het
Map4k2 A G 19: 6,396,534 (GRCm39) probably benign Het
Nt5c2 A C 19: 46,887,068 (GRCm39) Y203D probably damaging Het
Oxgr1 A G 14: 120,259,665 (GRCm39) S181P probably damaging Het
Parn A G 16: 13,443,416 (GRCm39) C400R probably benign Het
Pcdhgb7 T C 18: 37,885,577 (GRCm39) V249A probably benign Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plcg2 A T 8: 118,304,613 (GRCm39) I273F possibly damaging Het
Plin1 A G 7: 79,372,447 (GRCm39) V64A probably damaging Het
Ppfia4 C A 1: 134,232,024 (GRCm39) probably null Het
Prkg2 A C 5: 99,124,321 (GRCm39) D376E possibly damaging Het
Ptgir T A 7: 16,642,645 (GRCm39) I82N probably damaging Het
Pum2 C T 12: 8,763,458 (GRCm39) P205L possibly damaging Het
Rab26 T A 17: 24,753,107 (GRCm39) probably benign Het
Recql4 T C 15: 76,594,329 (GRCm39) E63G probably benign Het
Rora T A 9: 69,271,423 (GRCm39) probably benign Het
Rp1 A C 1: 4,418,256 (GRCm39) M952R probably benign Het
Rpap3 T A 15: 97,601,104 (GRCm39) R44S possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc12a2 C A 18: 58,012,092 (GRCm39) P72T probably damaging Het
Slc1a3 C T 15: 8,671,709 (GRCm39) V416M probably damaging Het
Slfn4 A T 11: 83,078,375 (GRCm39) M388L possibly damaging Het
Snrnp48 G A 13: 38,389,093 (GRCm39) A49T probably benign Het
Tlx2 C T 6: 83,045,911 (GRCm39) G228D possibly damaging Het
Tmem132a A G 19: 10,844,508 (GRCm39) V30A possibly damaging Het
Tnfrsf23 C A 7: 143,239,522 (GRCm39) L24F possibly damaging Het
Ubr2 A T 17: 47,294,196 (GRCm39) N312K probably benign Het
Vmn1r115 C T 7: 20,578,169 (GRCm39) V248I probably damaging Het
Vmn2r80 A G 10: 79,029,874 (GRCm39) T567A probably benign Het
Vps13c A G 9: 67,852,835 (GRCm39) T2372A probably benign Het
Wnt10b G T 15: 98,674,495 (GRCm39) H81N probably damaging Het
Zfp948 A G 17: 21,808,505 (GRCm39) T566A 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
R5040:Eif4g3 UTSW 4 137,824,200 (GRCm39) missense probably damaging 0.99
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
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'- TGATCAGAACCTGACTTAGTGTGG -3'
(R):5'- AATCCAGGCTGTCGATCAC -3'

Sequencing Primer
(F):5'- GCTCCAAGTAGATGAGTTTAG -3'
(R):5'- GCTGTCGATCACTGCCC -3'
Posted On 2016-07-22