Incidental Mutation 'R1225:Eif5b'
ID 152853
Institutional Source Beutler Lab
Gene Symbol Eif5b
Ensembl Gene ENSMUSG00000026083
Gene Name eukaryotic translation initiation factor 5B
Synonyms IF2, A030003E17Rik
MMRRC Submission 039294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1225 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 38037091-38094660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38076709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 674 (I674V)
Ref Sequence ENSEMBL: ENSMUSP00000027252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027252]
AlphaFold Q05D44
Predicted Effect probably damaging
Transcript: ENSMUST00000027252
AA Change: I674V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: I674V

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
low complexity region 33 51 N/A INTRINSIC
low complexity region 94 106 N/A INTRINSIC
low complexity region 110 126 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 183 193 N/A INTRINSIC
coiled coil region 227 272 N/A INTRINSIC
coiled coil region 301 414 N/A INTRINSIC
low complexity region 480 498 N/A INTRINSIC
coiled coil region 523 554 N/A INTRINSIC
low complexity region 580 594 N/A INTRINSIC
Pfam:GTP_EFTU 625 840 4.7e-35 PFAM
Pfam:MMR_HSR1 629 753 5.1e-6 PFAM
Pfam:GTP_EFTU_D2 866 944 7.1e-11 PFAM
Pfam:IF-2 959 1066 1.4e-20 PFAM
Blast:S1 1116 1172 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193806
Meta Mutation Damage Score 0.3102 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,953 (GRCm39) noncoding transcript Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ahnak T A 19: 8,980,247 (GRCm39) D510E probably damaging Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Arid1a A G 4: 133,414,676 (GRCm39) V1185A unknown Het
Atp2c2 C A 8: 120,461,984 (GRCm39) Q286K probably damaging Het
Blzf1 T C 1: 164,127,165 (GRCm39) E209G probably damaging Het
Bmp6 A G 13: 38,530,257 (GRCm39) T117A probably benign Het
Cmip T C 8: 118,172,110 (GRCm39) F394L probably damaging Het
Col6a3 T A 1: 90,739,238 (GRCm39) D330V probably damaging Het
Crebbp A T 16: 3,944,820 (GRCm39) S491R probably benign Het
Dedd G A 1: 171,167,863 (GRCm39) probably null Het
Dennd4a A G 9: 64,818,957 (GRCm39) H1704R probably benign Het
Dicer1 C T 12: 104,657,866 (GRCm39) V1903I probably damaging Het
Dnah9 A G 11: 65,761,886 (GRCm39) V3868A possibly damaging Het
F13a1 T C 13: 37,209,825 (GRCm39) N47D probably benign Het
Fancd2 T C 6: 113,512,822 (GRCm39) S53P probably damaging Het
Fsip1 C A 2: 118,078,831 (GRCm39) L170F probably damaging Het
Git2 A T 5: 114,871,239 (GRCm39) probably benign Het
Gm9742 T C 13: 8,079,875 (GRCm39) noncoding transcript Het
Heatr4 C T 12: 84,024,820 (GRCm39) E334K probably benign Het
Hoga1 T G 19: 42,058,628 (GRCm39) V110G probably damaging Het
Ighv6-4 T A 12: 114,370,170 (GRCm39) D75V probably damaging Het
Inhca A T 9: 103,132,038 (GRCm39) probably benign Het
Med15 G T 16: 17,540,652 (GRCm39) S31R probably damaging Het
Nbeal2 T C 9: 110,461,954 (GRCm39) E1467G probably damaging Het
Or2ag1 A T 7: 106,313,731 (GRCm39) D52E probably benign Het
Or2t6 T A 14: 14,175,600 (GRCm38) I161F possibly damaging Het
Or5ac19 T C 16: 59,089,587 (GRCm39) T148A probably benign Het
Papss1 T C 3: 131,285,062 (GRCm39) probably benign Het
Pde4d A T 13: 110,086,755 (GRCm39) M610L probably benign Het
Prickle4 T G 17: 47,999,614 (GRCm39) probably null Het
Sema3g A G 14: 30,942,636 (GRCm39) Y79C probably damaging Het
Setbp1 T A 18: 78,901,423 (GRCm39) D748V probably damaging Het
Slc46a2 A T 4: 59,914,125 (GRCm39) V266E probably benign Het
Slc9a8 T C 2: 167,313,443 (GRCm39) I435T probably benign Het
Snx29 T C 16: 11,238,550 (GRCm39) probably benign Het
Son C T 16: 91,454,228 (GRCm39) R992C probably damaging Het
Stxbp5 T C 10: 9,688,135 (GRCm39) N389D possibly damaging Het
Vmn1r28 C T 6: 58,242,951 (GRCm39) Q265* probably null Het
Other mutations in Eif5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Eif5b APN 1 38,080,800 (GRCm39) missense probably damaging 1.00
IGL01377:Eif5b APN 1 38,075,179 (GRCm39) missense probably benign
IGL01395:Eif5b APN 1 38,076,339 (GRCm39) missense probably damaging 0.96
IGL01572:Eif5b APN 1 38,061,335 (GRCm39) nonsense probably null
IGL01615:Eif5b APN 1 38,084,787 (GRCm39) missense probably damaging 1.00
IGL02141:Eif5b APN 1 38,071,403 (GRCm39) missense probably benign 0.09
IGL02260:Eif5b APN 1 38,084,537 (GRCm39) missense possibly damaging 0.81
IGL02308:Eif5b APN 1 38,080,828 (GRCm39) missense probably damaging 1.00
IGL03180:Eif5b APN 1 38,075,350 (GRCm39) missense probably damaging 1.00
IGL03327:Eif5b APN 1 38,080,772 (GRCm39) splice site probably benign
R0018:Eif5b UTSW 1 38,057,970 (GRCm39) missense unknown
R0036:Eif5b UTSW 1 38,058,192 (GRCm39) missense probably benign 0.23
R0137:Eif5b UTSW 1 38,058,324 (GRCm39) missense probably benign 0.23
R0349:Eif5b UTSW 1 38,071,447 (GRCm39) missense probably benign 0.18
R0606:Eif5b UTSW 1 38,087,974 (GRCm39) missense probably damaging 1.00
R1056:Eif5b UTSW 1 38,061,248 (GRCm39) missense unknown
R2043:Eif5b UTSW 1 38,080,900 (GRCm39) missense probably damaging 1.00
R2163:Eif5b UTSW 1 38,087,875 (GRCm39) missense probably benign 0.32
R2225:Eif5b UTSW 1 38,058,304 (GRCm39) missense unknown
R2432:Eif5b UTSW 1 38,058,423 (GRCm39) missense unknown
R2922:Eif5b UTSW 1 38,057,100 (GRCm39) splice site probably benign
R4357:Eif5b UTSW 1 38,089,339 (GRCm39) missense probably damaging 1.00
R4631:Eif5b UTSW 1 38,080,828 (GRCm39) missense probably damaging 1.00
R4665:Eif5b UTSW 1 38,084,793 (GRCm39) missense probably damaging 1.00
R4702:Eif5b UTSW 1 38,057,958 (GRCm39) missense unknown
R4941:Eif5b UTSW 1 38,090,280 (GRCm39) missense probably damaging 1.00
R4995:Eif5b UTSW 1 38,090,792 (GRCm39) makesense probably null
R5020:Eif5b UTSW 1 38,058,150 (GRCm39) nonsense probably null
R5175:Eif5b UTSW 1 38,084,468 (GRCm39) missense probably damaging 1.00
R5375:Eif5b UTSW 1 38,084,835 (GRCm39) missense possibly damaging 0.66
R5566:Eif5b UTSW 1 38,084,765 (GRCm39) missense possibly damaging 0.90
R5566:Eif5b UTSW 1 38,090,328 (GRCm39) missense probably damaging 1.00
R5853:Eif5b UTSW 1 38,076,388 (GRCm39) missense probably damaging 1.00
R5978:Eif5b UTSW 1 38,037,361 (GRCm39) splice site probably null
R6315:Eif5b UTSW 1 38,057,114 (GRCm39) missense unknown
R6376:Eif5b UTSW 1 38,084,760 (GRCm39) missense probably damaging 0.98
R6388:Eif5b UTSW 1 38,058,081 (GRCm39) missense unknown
R6444:Eif5b UTSW 1 38,075,292 (GRCm39) missense probably damaging 1.00
R6455:Eif5b UTSW 1 38,058,108 (GRCm39) missense probably benign 0.23
R6810:Eif5b UTSW 1 38,085,741 (GRCm39) missense probably benign 0.45
R6877:Eif5b UTSW 1 38,089,320 (GRCm39) missense probably damaging 1.00
R7130:Eif5b UTSW 1 38,080,857 (GRCm39) missense probably damaging 1.00
R7180:Eif5b UTSW 1 38,088,155 (GRCm39) missense probably damaging 0.98
R7439:Eif5b UTSW 1 38,090,718 (GRCm39) missense probably benign 0.28
R7488:Eif5b UTSW 1 38,089,387 (GRCm39) missense possibly damaging 0.69
R8140:Eif5b UTSW 1 38,090,357 (GRCm39) missense probably benign 0.41
R8166:Eif5b UTSW 1 38,087,901 (GRCm39) missense probably benign 0.11
R8191:Eif5b UTSW 1 38,075,283 (GRCm39) missense probably damaging 0.98
R8304:Eif5b UTSW 1 38,084,774 (GRCm39) missense probably benign 0.11
R8549:Eif5b UTSW 1 38,076,288 (GRCm39) missense possibly damaging 0.96
R8558:Eif5b UTSW 1 38,083,795 (GRCm39) missense probably damaging 0.99
R8893:Eif5b UTSW 1 38,090,300 (GRCm39) missense possibly damaging 0.48
R9452:Eif5b UTSW 1 38,084,861 (GRCm39) missense probably damaging 1.00
R9487:Eif5b UTSW 1 38,084,560 (GRCm39) missense probably damaging 0.99
R9487:Eif5b UTSW 1 38,058,451 (GRCm39) nonsense probably null
R9542:Eif5b UTSW 1 38,057,131 (GRCm39) nonsense probably null
R9721:Eif5b UTSW 1 38,076,740 (GRCm39) critical splice donor site probably null
R9745:Eif5b UTSW 1 38,084,729 (GRCm39) missense probably damaging 1.00
R9748:Eif5b UTSW 1 38,090,241 (GRCm39) missense possibly damaging 0.89
RF018:Eif5b UTSW 1 38,060,673 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGCCTGTGAACAAAGAAGACGTTCC -3'
(R):5'- GCCCAACAGCACCAAGTTATTTCAG -3'

Sequencing Primer
(F):5'- GGCATCAGCAATACTGTAACTG -3'
(R):5'- accaacatatttgaaaagcatatgac -3'
Posted On 2014-01-29