Incidental Mutation 'IGL01377:Eif5b'
ID 78774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif5b
Ensembl Gene ENSMUSG00000026083
Gene Name eukaryotic translation initiation factor 5B
Synonyms IF2, A030003E17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01377
Quality Score
Status
Chromosome 1
Chromosomal Location 38037091-38094660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38075179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 552 (D552G)
Ref Sequence ENSEMBL: ENSMUSP00000027252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027252]
AlphaFold Q05D44
Predicted Effect probably benign
Transcript: ENSMUST00000027252
AA Change: D552G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: D552G

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
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,460,108 (GRCm39) V196D probably damaging Het
Ago1 C T 4: 126,353,610 (GRCm39) V279M probably damaging Het
Bltp1 T C 3: 37,027,601 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,966 (GRCm39) D675G probably damaging Het
Cdc42bpa T A 1: 179,892,708 (GRCm39) Y291N probably damaging Het
Cdca5 T C 19: 6,140,312 (GRCm39) S158P probably damaging Het
Cdh8 A G 8: 99,760,021 (GRCm39) I576T probably damaging Het
Cpsf2 T A 12: 101,953,640 (GRCm39) probably null Het
Cyc1 C T 15: 76,229,162 (GRCm39) R143* probably null Het
Dcaf6 A T 1: 165,216,293 (GRCm39) S437T probably benign Het
Epor T C 9: 21,870,593 (GRCm39) D429G probably damaging Het
Farp2 A G 1: 93,531,181 (GRCm39) I560V possibly damaging Het
Fbxw21 T A 9: 108,975,713 (GRCm39) R228* probably null Het
Fyb1 T C 15: 6,609,801 (GRCm39) S125P probably benign Het
Gfm1 A T 3: 67,382,086 (GRCm39) Y720F probably damaging Het
Hspbap1 T A 16: 35,645,681 (GRCm39) D455E possibly damaging Het
Katnal2 T C 18: 77,090,153 (GRCm39) R285G probably damaging Het
Kif12 G A 4: 63,088,962 (GRCm39) T153I probably damaging Het
Klhl31 T C 9: 77,558,013 (GRCm39) F243S probably benign Het
Large2 A G 2: 92,199,676 (GRCm39) Y208H probably damaging Het
Lrp1b A G 2: 40,491,550 (GRCm39) V239A probably damaging Het
Mblac2 G A 13: 81,898,266 (GRCm39) R214H probably damaging Het
Mlf2 A G 6: 124,911,654 (GRCm39) N168D probably damaging Het
Mtmr6 T A 14: 60,519,483 (GRCm39) Y134* probably null Het
Mtus1 T C 8: 41,536,172 (GRCm39) K515E possibly damaging Het
Nek1 A G 8: 61,542,490 (GRCm39) T718A probably benign Het
Nfx1 A G 4: 40,977,241 (GRCm39) N305S probably benign Het
Nrxn3 T A 12: 89,499,782 (GRCm39) probably null Het
Nsf T C 11: 103,763,473 (GRCm39) D377G probably damaging Het
Pde4b A G 4: 102,344,599 (GRCm39) E102G probably damaging Het
Pdlim4 G T 11: 53,947,130 (GRCm39) S56R probably benign Het
Poc5 T C 13: 96,538,139 (GRCm39) V268A probably benign Het
Sec23b A C 2: 144,401,157 (GRCm39) E6A probably damaging Het
Sgsm1 A T 5: 113,424,048 (GRCm39) probably benign Het
Slc16a12 T A 19: 34,650,084 (GRCm39) N317I possibly damaging Het
Slc1a7 A T 4: 107,850,162 (GRCm39) D91V probably damaging Het
Slc30a9 T G 5: 67,473,173 (GRCm39) S86A probably benign Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,636 (GRCm39) S16P probably benign Het
Tmtc1 A C 6: 148,147,285 (GRCm39) V804G possibly damaging Het
Ttc7b A G 12: 100,321,371 (GRCm39) F587L probably benign Het
Vmn2r86 A T 10: 130,288,855 (GRCm39) D215E probably damaging Het
Other mutations in Eif5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Eif5b APN 1 38,080,800 (GRCm39) missense probably damaging 1.00
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
R1225:Eif5b UTSW 1 38,076,709 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-11-05