Incidental Mutation 'R6877:Eif5b'
ID 536443
Institutional Source Beutler Lab
Gene Symbol Eif5b
Ensembl Gene ENSMUSG00000026083
Gene Name eukaryotic translation initiation factor 5B
Synonyms IF2, A030003E17Rik
MMRRC Submission 044973-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6877 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 38037091-38094660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38089320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1099 (N1099Y)
Ref Sequence ENSEMBL: ENSMUSP00000027252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027251] [ENSMUST00000027252]
AlphaFold Q05D44
Predicted Effect probably benign
Transcript: ENSMUST00000027251
SMART Domains Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082

DomainStartEndE-ValueType
BRCT 46 121 3.99e-13 SMART
low complexity region 320 342 N/A INTRINSIC
Pfam:IMS 420 620 1.9e-43 PFAM
Pfam:IMS_C 700 831 5.8e-20 PFAM
low complexity region 888 901 N/A INTRINSIC
Pfam:DUF4414 938 1071 9.7e-11 PFAM
Pfam:REV1_C 1127 1248 1.2e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000027252
AA Change: N1099Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: N1099Y

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
Meta Mutation Damage Score 0.6616 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 94% (47/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,078,274 (GRCm39) H650R probably benign Het
Adgrl2 T C 3: 148,522,922 (GRCm39) Y1367C probably damaging Het
Aqr A T 2: 113,947,052 (GRCm39) C1043* probably null Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
AU041133 A G 10: 81,987,405 (GRCm39) T352A probably benign Het
Bcl7a A G 5: 123,489,958 (GRCm39) T41A probably damaging Het
Btbd10 A T 7: 112,921,967 (GRCm39) F298Y probably damaging Het
Ccdc57 G A 11: 120,764,528 (GRCm39) T749I probably benign Het
Clcnkb T C 4: 141,132,143 (GRCm39) N646S probably benign Het
Dcst1 T C 3: 89,257,667 (GRCm39) D701G probably benign Het
Dnah14 C A 1: 181,455,997 (GRCm39) T1001K possibly damaging Het
Dnah8 G T 17: 30,965,933 (GRCm39) G2422W probably damaging Het
Dyrk2 A T 10: 118,696,328 (GRCm39) I310N probably damaging Het
Elp2 T A 18: 24,768,033 (GRCm39) N762K probably benign Het
Esco2 A G 14: 66,068,494 (GRCm39) V272A probably benign Het
Fat3 A C 9: 15,910,564 (GRCm39) S1813A probably benign Het
Igf2r A G 17: 12,916,228 (GRCm39) V1710A probably damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kcnk5 T C 14: 20,194,784 (GRCm39) T185A possibly damaging Het
Litafd G A 16: 8,501,173 (GRCm39) V10I unknown Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nol4 A T 18: 22,852,186 (GRCm39) C460S probably benign Het
Ntaq1 C A 15: 58,017,074 (GRCm39) P163Q probably damaging Het
Or10g3b T A 14: 52,587,270 (GRCm39) I78F possibly damaging Het
Or4f14b T C 2: 111,775,184 (GRCm39) I206V probably benign Het
Ovch2 G A 7: 107,389,315 (GRCm39) A371V probably benign Het
Pcdhb4 A G 18: 37,442,625 (GRCm39) D645G probably damaging Het
Pcnt A C 10: 76,269,851 (GRCm39) S207A possibly damaging Het
Pex1 A T 5: 3,685,505 (GRCm39) Q1211L probably benign Het
Pnn A G 12: 59,115,553 (GRCm39) E99G probably damaging Het
Prkrip1 A T 5: 136,218,478 (GRCm39) probably null Het
Rnf133 A G 6: 23,649,486 (GRCm39) F191L probably benign Het
Scn10a T C 9: 119,438,848 (GRCm39) T1674A probably damaging Het
Sdccag8 G A 1: 176,839,501 (GRCm39) V682M probably damaging Het
Spi1 T C 2: 90,944,741 (GRCm39) L162P probably damaging Het
Sptan1 C G 2: 29,920,985 (GRCm39) N2432K probably damaging Het
Stx2 A G 5: 129,064,884 (GRCm39) V271A probably benign Het
Sumf2 G A 5: 129,878,867 (GRCm39) D68N probably damaging Het
Tsc22d4 A G 5: 137,760,855 (GRCm39) E92G possibly damaging Het
Ube3c G T 5: 29,792,316 (GRCm39) R37L probably benign Het
Ubr5 A G 15: 38,002,814 (GRCm39) S1446P probably damaging Het
Veph1 T C 3: 66,162,505 (GRCm39) N51S probably damaging Het
Vmn1r82 T C 7: 12,039,290 (GRCm39) F70L possibly damaging Het
Vmn2r92 A G 17: 18,389,084 (GRCm39) N466S probably damaging Het
Vwf T A 6: 125,634,164 (GRCm39) V2153D possibly damaging Het
Yeats2 A G 16: 19,998,344 (GRCm39) T300A probably benign Het
Zc3h12d G T 10: 7,715,735 (GRCm39) R46L probably damaging Het
Zfp516 T C 18: 82,973,916 (GRCm39) I38T probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown Het
Zpld1 C T 16: 55,072,034 (GRCm39) G75E 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
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 38,090,328 (GRCm39) missense probably damaging 1.00
R5566:Eif5b UTSW 1 38,084,765 (GRCm39) missense possibly damaging 0.90
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
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'- TGGGGCATGAACATGTTCCC -3'
(R):5'- TTAGGAATGCAGACGGACATTAC -3'

Sequencing Primer
(F):5'- GCATGAACATGTTCCCTGATGTAGC -3'
(R):5'- CATTACTGAAGTGATACCACCTAGGG -3'
Posted On 2018-10-18