Incidental Mutation 'IGL02141:Eif5b'
ID 281529
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 # IGL02141
Quality Score
Status
Chromosome 1
Chromosomal Location 38037091-38094660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38071403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 444 (V444A)
Ref Sequence ENSEMBL: ENSMUSP00000027252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027252]
AlphaFold Q05D44
Predicted Effect probably benign
Transcript: ENSMUST00000027252
AA Change: V444A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: V444A

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging 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
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 2015-04-16