Incidental Mutation 'R1571:Eif4g3'
ID 186196
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 039610-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R1571 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137719090-137934397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137847719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 213 (H213Q)
Ref Sequence ENSEMBL: ENSMUSP00000101456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058133] [ENSMUST00000084214] [ENSMUST00000084215] [ENSMUST00000105830] [ENSMUST00000105831] [ENSMUST00000203828]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058133
SMART Domains Protein: ENSMUSP00000059465
Gene: ENSMUSG00000028760

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: H221Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: H221Q

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: H203Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: H203Q

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: H213Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101456
Gene: ENSMUSG00000028760
AA Change: H213Q

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: H210Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: H210Q

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: ENSMUST00000203828
AA Change: H386Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: H386Q

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A G 5: 114,961,372 (GRCm39) probably null Het
Abcd3 T C 3: 121,586,491 (GRCm39) I70V possibly damaging Het
Acad10 T C 5: 121,759,411 (GRCm39) Y1024C probably damaging Het
Atp2b3 T G X: 72,588,712 (GRCm39) V701G probably damaging Het
Cbfa2t2 T A 2: 154,342,347 (GRCm39) M21K probably damaging Het
Cdc25a C T 9: 109,710,614 (GRCm39) T106I possibly damaging Het
Cdhr5 T C 7: 140,852,083 (GRCm39) T190A probably damaging Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Clcn6 T C 4: 148,097,226 (GRCm39) T614A possibly damaging Het
Cntln A T 4: 84,865,823 (GRCm39) R160* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dock3 C A 9: 106,815,158 (GRCm39) M1236I possibly damaging Het
Eya1 T A 1: 14,279,141 (GRCm39) H372L probably damaging Het
Fam13b A G 18: 34,630,485 (GRCm39) V91A possibly damaging Het
Hat1 T A 2: 71,264,519 (GRCm39) I319K probably benign Het
Kcnf1 T C 12: 17,225,853 (GRCm39) N123D probably benign Het
Kcns3 C A 12: 11,141,551 (GRCm39) G383W probably damaging Het
Kprp A T 3: 92,732,689 (GRCm39) C120* probably null Het
Lama3 T A 18: 12,672,774 (GRCm39) C2456S probably damaging Het
Lrp1b A T 2: 41,366,658 (GRCm39) D539E probably damaging Het
Matn3 T C 12: 9,005,466 (GRCm39) L292S probably damaging Het
Mbd3l1 T A 9: 18,395,947 (GRCm39) I24N probably damaging Het
Med10 T C 13: 69,958,159 (GRCm39) L37P probably damaging Het
Mrc1 A T 2: 14,313,544 (GRCm39) H925L probably damaging Het
Myo15a T A 11: 60,409,290 (GRCm39) I3219N probably damaging Het
Nom1 C T 5: 29,647,633 (GRCm39) Q623* probably null Het
Nrm T A 17: 36,175,079 (GRCm39) W136R probably damaging Het
Or8h8 A C 2: 86,753,789 (GRCm39) V29G probably benign Het
Pde7b T C 10: 20,288,836 (GRCm39) N298S probably benign Het
Piezo2 C T 18: 63,277,990 (GRCm39) A305T possibly damaging Het
Pimreg T C 11: 71,936,042 (GRCm39) L175P possibly damaging Het
Pkhd1l1 A G 15: 44,390,237 (GRCm39) D1451G probably benign Het
Ptpro A G 6: 137,355,128 (GRCm39) S212G probably benign Het
Rhpn1 C T 15: 75,585,967 (GRCm39) R627C possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnase4 T G 14: 51,342,497 (GRCm39) F74V probably damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Selp T C 1: 163,954,176 (GRCm39) Y159H probably damaging Het
Senp6 A G 9: 80,000,853 (GRCm39) T21A probably damaging Het
Slco1a7 A T 6: 141,700,135 (GRCm39) C132* probably null Het
Slco3a1 T C 7: 74,154,128 (GRCm39) D148G possibly damaging Het
Smtn G A 11: 3,480,102 (GRCm39) P373L probably benign Het
Snx20 A T 8: 89,356,597 (GRCm39) L73Q probably damaging Het
Sobp A G 10: 43,033,942 (GRCm39) V128A possibly damaging Het
Tcerg1 A G 18: 42,657,357 (GRCm39) T280A unknown Het
Tgfbrap1 A G 1: 43,088,973 (GRCm39) V810A probably benign Het
Thbs1 C A 2: 117,949,678 (GRCm39) D589E probably damaging Het
Tjp2 A G 19: 24,078,239 (GRCm39) Y885H probably damaging Het
Tmem109 A G 19: 10,849,993 (GRCm39) S100P probably damaging Het
Trim36 T C 18: 46,305,562 (GRCm39) K462E probably benign Het
Vmn1r226 A T 17: 20,908,538 (GRCm39) I257F probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Wdcp T A 12: 4,901,924 (GRCm39) Y593* probably null Het
Wdr59 T C 8: 112,177,682 (GRCm39) S907G probably damaging 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
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
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'- AACTTTTAGCCAGTCTGGGACGATG -3'
(R):5'- TGCTACAGAGCAGTCAGAGCAACC -3'

Sequencing Primer
(F):5'- GACGATGTTGAGTCCTGTCCC -3'
(R):5'- AGTCAGAGCAACCCTCGG -3'
Posted On 2014-05-09