Incidental Mutation 'R6632:Eif4g1'
ID 525254
Institutional Source Beutler Lab
Gene Symbol Eif4g1
Ensembl Gene ENSMUSG00000045983
Gene Name eukaryotic translation initiation factor 4, gamma 1
Synonyms E030015G23Rik
MMRRC Submission 044754-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R6632 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 20491457-20511633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20504270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1068 (I1068F)
Ref Sequence ENSEMBL: ENSMUSP00000111123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044783] [ENSMUST00000073840] [ENSMUST00000115457] [ENSMUST00000115460] [ENSMUST00000115461] [ENSMUST00000115463] [ENSMUST00000143939] [ENSMUST00000156226] [ENSMUST00000128594] [ENSMUST00000150333] [ENSMUST00000142344]
AlphaFold Q6NZJ6
Predicted Effect probably damaging
Transcript: ENSMUST00000044783
AA Change: I1082F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047678
Gene: ENSMUSG00000045983
AA Change: I1082F

DomainStartEndE-ValueType
low complexity region 60 81 N/A INTRINSIC
PDB:1LJ2|D 179 206 1e-10 PDB
low complexity region 260 286 N/A INTRINSIC
low complexity region 436 457 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
Blast:MIF4G 638 683 7e-9 BLAST
low complexity region 685 707 N/A INTRINSIC
MIF4G 765 993 5.14e-72 SMART
low complexity region 1035 1047 N/A INTRINSIC
low complexity region 1092 1106 N/A INTRINSIC
low complexity region 1157 1178 N/A INTRINSIC
low complexity region 1186 1201 N/A INTRINSIC
MA3 1242 1354 3.83e-39 SMART
low complexity region 1441 1452 N/A INTRINSIC
eIF5C 1508 1595 3.78e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000073840
AA Change: I1075F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073506
Gene: ENSMUSG00000045983
AA Change: I1075F

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
PDB:1LJ2|D 172 199 1e-10 PDB
low complexity region 253 279 N/A INTRINSIC
low complexity region 429 450 N/A INTRINSIC
low complexity region 457 480 N/A INTRINSIC
Blast:MIF4G 631 676 7e-9 BLAST
low complexity region 678 700 N/A INTRINSIC
MIF4G 758 986 5.14e-72 SMART
low complexity region 1028 1040 N/A INTRINSIC
low complexity region 1085 1099 N/A INTRINSIC
low complexity region 1150 1171 N/A INTRINSIC
low complexity region 1179 1194 N/A INTRINSIC
MA3 1235 1347 3.83e-39 SMART
low complexity region 1434 1445 N/A INTRINSIC
eIF5C 1501 1588 3.78e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104051
Predicted Effect probably damaging
Transcript: ENSMUST00000115457
AA Change: I1035F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111117
Gene: ENSMUSG00000045983
AA Change: I1035F

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
PDB:1LJ2|D 132 159 9e-11 PDB
low complexity region 213 239 N/A INTRINSIC
low complexity region 389 410 N/A INTRINSIC
low complexity region 417 440 N/A INTRINSIC
Blast:MIF4G 591 636 7e-9 BLAST
low complexity region 638 660 N/A INTRINSIC
MIF4G 718 946 5.14e-72 SMART
low complexity region 988 1000 N/A INTRINSIC
low complexity region 1045 1059 N/A INTRINSIC
low complexity region 1110 1131 N/A INTRINSIC
low complexity region 1139 1154 N/A INTRINSIC
MA3 1195 1307 3.83e-39 SMART
low complexity region 1394 1405 N/A INTRINSIC
eIF5C 1461 1548 3.78e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115460
AA Change: I1082F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111120
Gene: ENSMUSG00000045983
AA Change: I1082F

DomainStartEndE-ValueType
low complexity region 60 81 N/A INTRINSIC
PDB:1LJ2|D 179 206 1e-10 PDB
low complexity region 260 286 N/A INTRINSIC
low complexity region 436 457 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
Blast:MIF4G 638 683 7e-9 BLAST
low complexity region 685 707 N/A INTRINSIC
MIF4G 765 993 5.14e-72 SMART
low complexity region 1035 1047 N/A INTRINSIC
low complexity region 1092 1106 N/A INTRINSIC
low complexity region 1157 1178 N/A INTRINSIC
low complexity region 1186 1201 N/A INTRINSIC
MA3 1242 1354 3.83e-39 SMART
low complexity region 1441 1452 N/A INTRINSIC
eIF5C 1508 1595 3.78e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115461
AA Change: I1076F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111121
Gene: ENSMUSG00000045983
AA Change: I1076F

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
PDB:1LJ2|D 172 199 1e-10 PDB
low complexity region 253 279 N/A INTRINSIC
low complexity region 429 450 N/A INTRINSIC
low complexity region 457 480 N/A INTRINSIC
Blast:MIF4G 631 676 8e-9 BLAST
low complexity region 678 693 N/A INTRINSIC
MIF4G 759 987 5.14e-72 SMART
low complexity region 1029 1041 N/A INTRINSIC
low complexity region 1086 1100 N/A INTRINSIC
low complexity region 1151 1172 N/A INTRINSIC
low complexity region 1180 1195 N/A INTRINSIC
MA3 1236 1348 3.83e-39 SMART
low complexity region 1435 1446 N/A INTRINSIC
eIF5C 1502 1589 3.78e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115463
AA Change: I1068F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111123
Gene: ENSMUSG00000045983
AA Change: I1068F

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
PDB:1LJ2|D 172 199 1e-10 PDB
low complexity region 253 279 N/A INTRINSIC
low complexity region 429 450 N/A INTRINSIC
low complexity region 457 480 N/A INTRINSIC
Blast:MIF4G 631 676 7e-9 BLAST
low complexity region 678 700 N/A INTRINSIC
MIF4G 758 986 5.14e-72 SMART
low complexity region 1030 1036 N/A INTRINSIC
low complexity region 1078 1092 N/A INTRINSIC
low complexity region 1143 1164 N/A INTRINSIC
low complexity region 1172 1187 N/A INTRINSIC
MA3 1228 1340 3.83e-39 SMART
low complexity region 1427 1438 N/A INTRINSIC
eIF5C 1494 1581 3.78e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143939
AA Change: I785F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144320
Gene: ENSMUSG00000045983
AA Change: I785F

DomainStartEndE-ValueType
low complexity region 139 160 N/A INTRINSIC
low complexity region 167 190 N/A INTRINSIC
Blast:MIF4G 341 386 6e-9 BLAST
low complexity region 388 410 N/A INTRINSIC
MIF4G 468 696 2.2e-74 SMART
low complexity region 738 750 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
low complexity region 860 881 N/A INTRINSIC
low complexity region 889 904 N/A INTRINSIC
MA3 945 1057 1.7e-41 SMART
low complexity region 1144 1155 N/A INTRINSIC
eIF5C 1211 1298 1.8e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156226
SMART Domains Protein: ENSMUSP00000119215
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132320
Predicted Effect probably benign
Transcript: ENSMUST00000128594
SMART Domains Protein: ENSMUSP00000144594
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
PDB:1LJ2|D 8 35 5e-11 PDB
low complexity region 89 115 N/A INTRINSIC
low complexity region 265 286 N/A INTRINSIC
low complexity region 293 316 N/A INTRINSIC
Blast:MIF4G 467 512 4e-9 BLAST
low complexity region 514 536 N/A INTRINSIC
MIF4G 594 795 1.1e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231477
Predicted Effect probably benign
Transcript: ENSMUST00000231598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129958
Predicted Effect probably benign
Transcript: ENSMUST00000150333
SMART Domains Protein: ENSMUSP00000144107
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
PDB:1LJ2|D 113 140 5e-11 PDB
low complexity region 194 220 N/A INTRINSIC
low complexity region 370 391 N/A INTRINSIC
low complexity region 398 421 N/A INTRINSIC
Blast:MIF4G 572 613 9e-8 BLAST
low complexity region 619 641 N/A INTRINSIC
MIF4G 699 900 1.1e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137690
Predicted Effect probably benign
Transcript: ENSMUST00000142344
SMART Domains Protein: ENSMUSP00000116029
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
PDB:1LJ2|D 172 199 5e-11 PDB
low complexity region 253 279 N/A INTRINSIC
low complexity region 429 450 N/A INTRINSIC
low complexity region 457 480 N/A INTRINSIC
Blast:MIF4G 631 672 6e-8 BLAST
low complexity region 678 693 N/A INTRINSIC
MIF4G 759 958 5.49e-49 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: This gene encodes a member of the eukaryotic translation initiation factors (eIF) that play important roles in translation initiation by mediating recruitment of additional initiation factors and providing a scaffold for ribosome/mRNA-bridging. Along with eIF4A and eIF4E, the encoded protein forms the eIF4F complex that bridges the 5' UTR with the polyadenylated 3' UTR resulting in mRNA circularization, enhanced translation initiation and mRNA stability. Through its association with eIF3, the encoded protein mediates recruitment of the 43S pre-initiation complex to mRNA. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes for this gene have been identified on chromosomes 2 and 13. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for an amino acid substitution (R1207H) are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,429,186 (GRCm39) S758P possibly damaging Het
Abca3 C G 17: 24,603,444 (GRCm39) D545E probably benign Het
Akap9 T A 5: 4,063,842 (GRCm39) probably null Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Arpp21 G A 9: 111,956,424 (GRCm39) Q518* probably null Het
Atp9b G A 18: 80,851,864 (GRCm39) R410W probably damaging Het
Cacna2d3 T C 14: 28,627,222 (GRCm39) *265W probably null Het
Ccdc96 G A 5: 36,642,533 (GRCm39) E180K probably benign Het
Cep164 T C 9: 45,691,088 (GRCm39) K1231E possibly damaging Het
Cnot1 A G 8: 96,499,895 (GRCm39) probably benign Het
Cpne2 T C 8: 95,281,583 (GRCm39) V206A probably benign Het
Dchs1 A G 7: 105,411,085 (GRCm39) Y1647H probably damaging Het
Dnaaf5 A G 5: 139,156,088 (GRCm39) T590A probably benign Het
Ephb4 A T 5: 137,364,849 (GRCm39) K639N probably damaging Het
Gcc2 A G 10: 58,105,871 (GRCm39) probably null Het
Gm35315 A C 5: 110,227,129 (GRCm39) Y103* probably null Het
Hsd17b4 A G 18: 50,312,169 (GRCm39) K578R possibly damaging Het
Ice2 T C 9: 69,335,734 (GRCm39) S906P probably benign Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lrp1b A T 2: 40,615,454 (GRCm39) W3650R probably benign Het
Mcoln3 C T 3: 145,833,942 (GRCm39) H161Y probably benign Het
Mphosph10 A T 7: 64,035,567 (GRCm39) M368K probably damaging Het
Msh2 A C 17: 88,020,094 (GRCm39) K567Q possibly damaging Het
N4bp3 T C 11: 51,534,776 (GRCm39) E429G possibly damaging Het
Nrxn3 G A 12: 89,159,924 (GRCm39) A17T probably damaging Het
Or2aj6 T C 16: 19,443,773 (GRCm39) T26A probably benign Het
Or5b106 T A 19: 13,123,552 (GRCm39) Y157F probably benign Het
P4ha2 G T 11: 54,008,474 (GRCm39) R227L probably benign Het
Pfkfb4 G A 9: 108,838,630 (GRCm39) probably null Het
Ror1 A G 4: 100,299,303 (GRCm39) N892S probably benign Het
Scn9a G T 2: 66,313,846 (GRCm39) D1957E probably benign Het
Sec24a A T 11: 51,604,476 (GRCm39) Y713* probably null Het
Serpinb1b T A 13: 33,271,438 (GRCm39) F70I probably damaging Het
Setdb1 T C 3: 95,231,460 (GRCm39) Y1284C probably damaging Het
Suco A T 1: 161,655,809 (GRCm39) M1030K possibly damaging Het
Syne1 A T 10: 5,165,667 (GRCm39) probably null Het
Other mutations in Eif4g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Eif4g1 APN 16 20,505,504 (GRCm39) intron probably benign
IGL00707:Eif4g1 APN 16 20,507,764 (GRCm39) missense probably damaging 1.00
IGL00950:Eif4g1 APN 16 20,502,378 (GRCm39) missense probably damaging 1.00
IGL01397:Eif4g1 APN 16 20,498,425 (GRCm39) missense probably damaging 0.98
IGL01657:Eif4g1 APN 16 20,500,966 (GRCm39) missense possibly damaging 0.94
IGL01875:Eif4g1 APN 16 20,499,790 (GRCm39) missense probably damaging 0.96
IGL02728:Eif4g1 APN 16 20,505,502 (GRCm39) intron probably benign
IGL03155:Eif4g1 APN 16 20,511,167 (GRCm39) missense probably damaging 1.00
IGL03339:Eif4g1 APN 16 20,499,734 (GRCm39) missense possibly damaging 0.72
R0032:Eif4g1 UTSW 16 20,504,648 (GRCm39) missense probably damaging 1.00
R0032:Eif4g1 UTSW 16 20,504,648 (GRCm39) missense probably damaging 1.00
R0138:Eif4g1 UTSW 16 20,494,095 (GRCm39) missense probably damaging 0.99
R0556:Eif4g1 UTSW 16 20,494,544 (GRCm39) missense probably damaging 0.99
R0576:Eif4g1 UTSW 16 20,502,818 (GRCm39) missense probably damaging 0.98
R1424:Eif4g1 UTSW 16 20,497,692 (GRCm39) missense probably benign 0.03
R1469:Eif4g1 UTSW 16 20,498,758 (GRCm39) missense possibly damaging 0.86
R1469:Eif4g1 UTSW 16 20,498,758 (GRCm39) missense possibly damaging 0.86
R1487:Eif4g1 UTSW 16 20,497,623 (GRCm39) unclassified probably benign
R1659:Eif4g1 UTSW 16 20,499,811 (GRCm39) missense probably damaging 0.99
R1697:Eif4g1 UTSW 16 20,498,530 (GRCm39) missense probably damaging 0.99
R1848:Eif4g1 UTSW 16 20,500,617 (GRCm39) missense probably damaging 1.00
R1855:Eif4g1 UTSW 16 20,505,911 (GRCm39) missense possibly damaging 0.77
R1865:Eif4g1 UTSW 16 20,497,398 (GRCm39) missense probably damaging 0.99
R3001:Eif4g1 UTSW 16 20,511,134 (GRCm39) missense probably damaging 1.00
R3002:Eif4g1 UTSW 16 20,511,134 (GRCm39) missense probably damaging 1.00
R4402:Eif4g1 UTSW 16 20,497,593 (GRCm39) unclassified probably benign
R4477:Eif4g1 UTSW 16 20,497,593 (GRCm39) unclassified probably benign
R4478:Eif4g1 UTSW 16 20,497,593 (GRCm39) unclassified probably benign
R4479:Eif4g1 UTSW 16 20,497,593 (GRCm39) unclassified probably benign
R4480:Eif4g1 UTSW 16 20,497,593 (GRCm39) unclassified probably benign
R4623:Eif4g1 UTSW 16 20,500,095 (GRCm39) unclassified probably benign
R4658:Eif4g1 UTSW 16 20,504,684 (GRCm39) missense possibly damaging 0.78
R4751:Eif4g1 UTSW 16 20,505,265 (GRCm39) missense possibly damaging 0.89
R4859:Eif4g1 UTSW 16 20,500,923 (GRCm39) missense probably benign 0.44
R5267:Eif4g1 UTSW 16 20,504,283 (GRCm39) missense probably damaging 0.99
R5376:Eif4g1 UTSW 16 20,502,577 (GRCm39) missense probably damaging 1.00
R5560:Eif4g1 UTSW 16 20,505,645 (GRCm39) missense probably benign
R5719:Eif4g1 UTSW 16 20,507,761 (GRCm39) missense probably damaging 1.00
R6849:Eif4g1 UTSW 16 20,499,495 (GRCm39) missense probably benign 0.08
R7134:Eif4g1 UTSW 16 20,500,252 (GRCm39) missense probably damaging 1.00
R7793:Eif4g1 UTSW 16 20,507,364 (GRCm39) missense probably benign 0.00
R7861:Eif4g1 UTSW 16 20,498,452 (GRCm39) missense probably benign
R8309:Eif4g1 UTSW 16 20,507,578 (GRCm39) missense probably benign 0.19
R8365:Eif4g1 UTSW 16 20,502,277 (GRCm39) missense probably damaging 1.00
R8726:Eif4g1 UTSW 16 20,494,232 (GRCm39) missense probably damaging 1.00
R8778:Eif4g1 UTSW 16 20,492,196 (GRCm39) intron probably benign
R9604:Eif4g1 UTSW 16 20,500,255 (GRCm39) missense possibly damaging 0.90
R9658:Eif4g1 UTSW 16 20,502,863 (GRCm39) missense probably benign 0.01
R9779:Eif4g1 UTSW 16 20,498,251 (GRCm39) missense probably damaging 0.97
X0062:Eif4g1 UTSW 16 20,503,251 (GRCm39) missense probably damaging 1.00
X0065:Eif4g1 UTSW 16 20,501,476 (GRCm39) missense probably damaging 1.00
Z1176:Eif4g1 UTSW 16 20,492,158 (GRCm39) intron probably benign
Z1177:Eif4g1 UTSW 16 20,505,116 (GRCm39) frame shift probably null
Z1177:Eif4g1 UTSW 16 20,502,655 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGAACTTGAATTTTACTGTCTATGGGT -3'
(R):5'- TGGCATCATGTATAACTCCTACATTT -3'

Sequencing Primer
(F):5'- tagtagccataggctgtg -3'
(R):5'- TCCATACCTGTGTCTGAGG -3'
Posted On 2018-06-22