Incidental Mutation 'IGL03339:Eif4g1'
ID 417155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif4g1
Ensembl Gene ENSMUSG00000045983
Gene Name eukaryotic translation initiation factor 4, gamma 1
Synonyms E030015G23Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL03339
Quality Score
Status
Chromosome 16
Chromosomal Location 20491457-20511633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20499734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 506 (E506G)
Ref Sequence ENSEMBL: ENSMUSP00000144107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044783] [ENSMUST00000073840] [ENSMUST00000115457] [ENSMUST00000115460] [ENSMUST00000115461] [ENSMUST00000128594] [ENSMUST00000150333] [ENSMUST00000142344] [ENSMUST00000143939] [ENSMUST00000115463] [ENSMUST00000140576] [ENSMUST00000136713] [ENSMUST00000128840] [ENSMUST00000141034] [ENSMUST00000156226] [ENSMUST00000231618] [ENSMUST00000154950] [ENSMUST00000151679] [ENSMUST00000154594]
AlphaFold Q6NZJ6
Predicted Effect probably benign
Transcript: ENSMUST00000044783
AA Change: E572G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000047678
Gene: ENSMUSG00000045983
AA Change: E572G

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 benign
Transcript: ENSMUST00000073840
AA Change: E565G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073506
Gene: ENSMUSG00000045983
AA Change: E565G

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 benign
Transcript: ENSMUST00000115457
AA Change: E525G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111117
Gene: ENSMUSG00000045983
AA Change: E525G

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 benign
Transcript: ENSMUST00000115460
AA Change: E572G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111120
Gene: ENSMUSG00000045983
AA Change: E572G

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 benign
Transcript: ENSMUST00000115461
AA Change: E565G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111121
Gene: ENSMUSG00000045983
AA Change: E565G

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 possibly damaging
Transcript: ENSMUST00000128594
AA Change: E401G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144594
Gene: ENSMUSG00000045983
AA Change: E401G

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 possibly damaging
Transcript: ENSMUST00000150333
AA Change: E506G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144107
Gene: ENSMUSG00000045983
AA Change: E506G

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 probably benign
Transcript: ENSMUST00000142344
AA Change: E565G

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116029
Gene: ENSMUSG00000045983
AA Change: E565G

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
Predicted Effect probably benign
Transcript: ENSMUST00000143939
AA Change: E275G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144320
Gene: ENSMUSG00000045983
AA Change: E275G

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: ENSMUST00000115463
AA Change: E565G

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111123
Gene: ENSMUSG00000045983
AA Change: E565G

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 noncoding transcript
Transcript: ENSMUST00000137690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132320
Predicted Effect probably benign
Transcript: ENSMUST00000140576
SMART Domains Protein: ENSMUSP00000117587
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 20 41 N/A INTRINSIC
PDB:1LJ2|D 129 156 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000136713
SMART Domains Protein: ENSMUSP00000143999
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
PDB:1LJ2|D 85 112 3e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000128840
SMART Domains Protein: ENSMUSP00000143861
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
PDB:1LJ2|D 85 112 5e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000141034
SMART Domains Protein: ENSMUSP00000120035
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 60 81 N/A INTRINSIC
PDB:4F02|F 175 200 4e-11 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000156226
SMART Domains Protein: ENSMUSP00000119215
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 53 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231598
Predicted Effect probably benign
Transcript: ENSMUST00000231618
Predicted Effect probably benign
Transcript: ENSMUST00000154950
SMART Domains Protein: ENSMUSP00000115230
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 60 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231477
Predicted Effect probably benign
Transcript: ENSMUST00000151679
SMART Domains Protein: ENSMUSP00000120698
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
low complexity region 13 34 N/A INTRINSIC
PDB:1LJ2|D 132 159 8e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000154594
SMART Domains Protein: ENSMUSP00000144233
Gene: ENSMUSG00000045983

DomainStartEndE-ValueType
PDB:1LJ2|D 8 35 3e-12 PDB
low complexity region 89 115 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging 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
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
R6632:Eif4g1 UTSW 16 20,504,270 (GRCm39) missense probably damaging 0.99
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
Posted On 2016-08-02