Incidental Mutation 'R7598:Eif4g3'
ID 587830
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 045641-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R7598 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 137719090-137934397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137921435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1387 (H1387Q)
Ref Sequence ENSEMBL: ENSMUSP00000081232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084214] [ENSMUST00000084215] [ENSMUST00000105831] [ENSMUST00000140796] [ENSMUST00000203828]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084214
AA Change: H1387Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000081232
Gene: ENSMUSG00000028760
AA Change: H1387Q

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 benign
Transcript: ENSMUST00000084215
AA Change: H1388Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000081233
Gene: ENSMUSG00000028760
AA Change: H1388Q

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 benign
Transcript: ENSMUST00000105831
AA Change: H1376Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000101457
Gene: ENSMUSG00000028760
AA Change: H1376Q

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 benign
Transcript: ENSMUST00000140796
AA Change: H811Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115946
Gene: ENSMUSG00000028760
AA Change: H811Q

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 benign
Transcript: ENSMUST00000203828
AA Change: H1571Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000145147
Gene: ENSMUSG00000028760
AA Change: H1571Q

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,480,370 (GRCm39) S234G probably benign Het
Agtr1b A T 3: 20,370,077 (GRCm39) N176K possibly damaging Het
AI661453 T C 17: 47,777,045 (GRCm39) V257A unknown Het
Alpk2 T A 18: 65,437,637 (GRCm39) K1252M probably damaging Het
Angpt4 A G 2: 151,767,445 (GRCm39) T159A possibly damaging Het
Ap1g1 A G 8: 110,576,308 (GRCm39) N447S probably benign Het
Apoc4 A G 7: 19,415,265 (GRCm39) V14A probably benign Het
Arfgef2 A C 2: 166,698,444 (GRCm39) Q638P probably benign Het
Arhgap20 C A 9: 51,761,090 (GRCm39) F980L possibly damaging Het
Arhgap27 G A 11: 103,224,879 (GRCm39) R459* probably null Het
Arhgef15 A T 11: 68,837,236 (GRCm39) L785Q probably damaging Het
B3gnt7 T C 1: 86,233,500 (GRCm39) F249L probably benign Het
Carmil3 A G 14: 55,732,278 (GRCm39) E233G possibly damaging Het
Ccdc122 C A 14: 77,349,006 (GRCm39) Q279K probably benign Het
Cilp2 A G 8: 70,338,682 (GRCm39) C134R probably benign Het
Clec4b1 G A 6: 123,048,427 (GRCm39) W187* probably null Het
Ddx11 G A 17: 66,437,541 (GRCm39) probably null Het
Dhrs7c A T 11: 67,702,279 (GRCm39) probably null Het
Gsdmc4 T C 15: 63,772,235 (GRCm39) N148S probably damaging Het
Hs6st3 T A 14: 120,106,750 (GRCm39) V386E probably damaging Het
Itih3 C T 14: 30,639,334 (GRCm39) R413Q possibly damaging Het
Kcnj4 T C 15: 79,369,965 (GRCm39) N5S probably benign Het
Klhl18 A T 9: 110,275,878 (GRCm39) L155* probably null Het
Lima1 G A 15: 99,717,577 (GRCm39) P143L probably benign Het
Lzts2 G T 19: 45,012,272 (GRCm39) G234* probably null Het
Map4k5 A T 12: 69,871,412 (GRCm39) F503L possibly damaging Het
Men1 A T 19: 6,389,735 (GRCm39) I463L probably benign Het
Muc5b A G 7: 141,412,999 (GRCm39) T1982A unknown Het
Myo18a A T 11: 77,738,172 (GRCm39) T1705S probably damaging Het
Nipbl T C 15: 8,372,977 (GRCm39) S1090G probably benign Het
Or2b7 T C 13: 21,739,358 (GRCm39) Y278C probably damaging Het
Or8k28 C A 2: 86,286,234 (GRCm39) C127F probably damaging Het
Pcdhb7 T C 18: 37,475,833 (GRCm39) F323S probably damaging Het
Pde11a T A 2: 75,966,767 (GRCm39) T561S probably damaging Het
Phip A C 9: 82,787,711 (GRCm39) S817R possibly damaging Het
Phxr2 T A 10: 98,961,941 (GRCm39) M40L unknown Het
Pip4k2a T A 2: 18,877,098 (GRCm39) L212F possibly damaging Het
Proc T A 18: 32,268,929 (GRCm39) I19L probably benign Het
Rbm4 T C 19: 4,842,539 (GRCm39) E100G possibly damaging Het
Rhobtb3 T C 13: 76,059,021 (GRCm39) Y259C probably benign Het
Rtkn A G 6: 83,124,884 (GRCm39) D168G probably null Het
Sdk1 T G 5: 141,595,753 (GRCm39) Y136* probably null Het
Slk G A 19: 47,624,901 (GRCm39) E1041K probably damaging Het
Smok2b A T 17: 13,454,973 (GRCm39) R378* probably null Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spag16 T C 1: 69,909,467 (GRCm39) F188S probably damaging Het
Tlnrd1 A G 7: 83,531,838 (GRCm39) C198R probably damaging Het
Tor1a A C 2: 30,857,796 (GRCm39) I24S probably benign Het
Unc13b C A 4: 43,263,569 (GRCm39) T1598K probably benign Het
Uncx G A 5: 139,529,809 (GRCm39) V21M probably benign Het
Usp5 A T 6: 124,803,342 (GRCm39) F53I possibly damaging Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Zfp654 T A 16: 64,606,297 (GRCm39) E94V possibly damaging Het
Zfp689 A G 7: 127,047,840 (GRCm39) L64P probably benign Het
Zfyve28 A C 5: 34,393,461 (GRCm39) N68K 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
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
R7176:Eif4g3 UTSW 4 137,898,497 (GRCm39) missense probably damaging 1.00
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'- GTGCTCAGATATCTCAGATACTAGGC -3'
(R):5'- TCTACTGCTGAGCCAATAGC -3'

Sequencing Primer
(F):5'- CAGATACTAGGCTTTTGATTTTGGC -3'
(R):5'- TAGCATCCAGGTCCCTCAG -3'
Posted On 2019-10-24