Incidental Mutation 'R7176:Eif4g3'
ID 558609
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 045267-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R7176 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 137719090-137934397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137898497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1089 (H1089Q)
Ref Sequence ENSEMBL: ENSMUSP00000145147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084214] [ENSMUST00000084215] [ENSMUST00000105831] [ENSMUST00000140796] [ENSMUST00000203828]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084214
AA Change: H924Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: H924Q

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: H906Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: H906Q

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: ENSMUST00000105831
AA Change: H913Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: H913Q

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: ENSMUST00000140796
AA Change: H348Q

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115946
Gene: ENSMUSG00000028760
AA Change: H348Q

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 16 40 N/A INTRINSIC
Blast:MIF4G 41 132 2e-49 BLAST
Blast:MIF4G 146 189 3e-16 BLAST
MIF4G 192 420 1.42e-65 SMART
low complexity region 510 533 N/A INTRINSIC
MA3 639 751 9.29e-38 SMART
eIF5C 911 998 7.92e-36 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203828
AA Change: H1089Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: H1089Q

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 0.9438 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,203 (GRCm39) H267N probably benign Het
Abtb2 A G 2: 103,539,720 (GRCm39) D695G probably benign Het
Adam21 C T 12: 81,607,022 (GRCm39) D247N possibly damaging Het
Adnp T C 2: 168,024,578 (GRCm39) N906D probably benign Het
Ankrd17 A T 5: 90,416,594 (GRCm39) H1079Q probably damaging Het
Aqp3 T A 4: 41,095,202 (GRCm39) N60Y probably damaging Het
Art4 T G 6: 136,834,166 (GRCm39) T26P probably benign Het
Arvcf T C 16: 18,218,477 (GRCm39) L553P probably damaging Het
Asxl1 T A 2: 153,243,908 (GRCm39) I1487N probably damaging Het
Capn3 A T 2: 120,334,973 (GRCm39) Y820F possibly damaging Het
Catip A G 1: 74,401,941 (GRCm39) T39A probably damaging Het
Ccdc168 A T 1: 44,099,506 (GRCm39) S531T probably benign Het
Ccdc18 T A 5: 108,315,972 (GRCm39) C481S probably benign Het
Ccnf A G 17: 24,468,376 (GRCm39) I7T possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdkl4 A T 17: 80,851,221 (GRCm39) Y160* probably null Het
Celsr3 C T 9: 108,722,961 (GRCm39) P2783S probably benign Het
Cisd3 A T 11: 97,576,959 (GRCm39) D11V probably benign Het
Daxx A T 17: 34,132,292 (GRCm39) H512L unknown Het
Dip2b A G 15: 100,067,199 (GRCm39) H567R probably damaging Het
Dnah7c C A 1: 46,469,969 (GRCm39) A18E probably benign Het
Eif3d A T 15: 77,847,434 (GRCm39) V268D probably damaging Het
Fmnl2 A G 2: 53,004,162 (GRCm39) M625V unknown Het
Foxn1 T C 11: 78,251,693 (GRCm39) R513G possibly damaging Het
Gemin5 C T 11: 58,056,828 (GRCm39) V134I probably benign Het
Gtf2h3 A G 5: 124,728,433 (GRCm39) R161G probably damaging Het
Ice1 A G 13: 70,772,525 (GRCm39) probably null Het
Il1rl1 T C 1: 40,485,766 (GRCm39) Y306H probably damaging Het
Kbtbd7 A T 14: 79,665,194 (GRCm39) E342V possibly damaging Het
Kyat3 A T 3: 142,443,600 (GRCm39) K404N possibly damaging Het
Lins1 T C 7: 66,363,553 (GRCm39) W483R probably benign Het
Lipo2 A G 19: 33,723,207 (GRCm39) I194T possibly damaging Het
Mcm8 G T 2: 132,661,992 (GRCm39) A137S probably benign Het
Mdm1 C A 10: 117,978,770 (GRCm39) Q12K probably damaging Het
Mrgprb5 C A 7: 47,818,059 (GRCm39) L225F possibly damaging Het
Myh11 T A 16: 14,033,690 (GRCm39) H1068L Het
Ngef A T 1: 87,408,417 (GRCm39) V550E possibly damaging Het
Nrg1 G A 8: 32,458,064 (GRCm39) Q84* probably null Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Ocln C A 13: 100,651,590 (GRCm39) G327C probably damaging Het
Ocln A C 13: 100,651,591 (GRCm39) N326K probably benign Het
Or10ag55-ps1 C T 2: 87,115,378 (GRCm39) A248V probably damaging Het
Otogl T C 10: 107,614,772 (GRCm39) D1960G probably damaging Het
Pik3c2a T C 7: 115,987,331 (GRCm39) D530G possibly damaging Het
Plod1 A T 4: 147,997,744 (GRCm39) M655K probably benign Het
Ppp4r3b A G 11: 29,148,904 (GRCm39) N449D probably damaging Het
Ppp6r3 G T 19: 3,521,989 (GRCm39) T563K probably damaging Het
Prepl T A 17: 85,376,454 (GRCm39) L533F probably benign Het
Rbl1 G A 2: 157,030,245 (GRCm39) R421W probably damaging Het
Rrp15 G A 1: 186,453,730 (GRCm39) S239L probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 A G 5: 124,530,944 (GRCm39) S815P probably benign Het
Scn7a G A 2: 66,506,632 (GRCm39) T1419I probably damaging Het
Setdb1 A G 3: 95,244,458 (GRCm39) probably null Het
Shpk A G 11: 73,113,814 (GRCm39) H409R probably benign Het
Slamf6 A C 1: 171,761,858 (GRCm39) N93T probably benign Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc35g1 T A 19: 38,391,771 (GRCm39) V351E probably damaging Het
Smcr8 A T 11: 60,669,772 (GRCm39) I307F probably damaging Het
Spats2l T C 1: 57,977,077 (GRCm39) I305T possibly damaging Het
Speer4c1 T C 5: 15,916,536 (GRCm39) T144A probably benign Het
Tbl3 G A 17: 24,919,732 (GRCm39) T774I probably benign Het
Ush2a A G 1: 188,269,925 (GRCm39) H1724R probably benign Het
Vcan A G 13: 89,837,055 (GRCm39) S2830P probably benign Het
Vmn2r27 T A 6: 124,168,995 (GRCm39) I712F probably benign Het
Wdr59 T G 8: 112,219,388 (GRCm39) Q223P Het
Zfp28 T A 7: 6,386,456 (GRCm39) C22S possibly damaging Het
Zfp536 T G 7: 37,180,276 (GRCm39) probably null 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
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
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'- GTGAGGCCCTGCAATCTTAG -3'
(R):5'- AGTCACATGTGCCATGAGG -3'

Sequencing Primer
(F):5'- AGGCCCTGCAATCTTAGGTGTTC -3'
(R):5'- TGGAAGGAGCCTGCACAC -3'
Posted On 2019-06-26