Incidental Mutation 'R6444:Eif5b'
ID 519114
Institutional Source Beutler Lab
Gene Symbol Eif5b
Ensembl Gene ENSMUSG00000026083
Gene Name eukaryotic translation initiation factor 5B
Synonyms IF2, A030003E17Rik
MMRRC Submission 044582-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6444 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 38037091-38094660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38075292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 590 (D590N)
Ref Sequence ENSEMBL: ENSMUSP00000027252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027252]
AlphaFold Q05D44
Predicted Effect probably damaging
Transcript: ENSMUST00000027252
AA Change: D590N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: D590N

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
Meta Mutation Damage Score 0.1086 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik ACAGAGCAGTGCCTACCAG ACAG 5: 138,637,831 (GRCm39) probably benign Het
Bcas2 T A 3: 103,079,362 (GRCm39) probably null Het
Camk1d A T 2: 5,317,956 (GRCm39) I233N probably damaging Het
Chd2 T C 7: 73,150,785 (GRCm39) probably null Het
Cnot2 T C 10: 116,335,260 (GRCm39) D246G probably benign Het
Cped1 A C 6: 21,986,930 (GRCm39) I41L probably benign Het
Dcdc2c A G 12: 28,585,475 (GRCm39) V174A probably damaging Het
Dscam G A 16: 96,420,844 (GRCm39) R1681C probably damaging Het
Dysf G A 6: 84,167,822 (GRCm39) V1755M probably benign Het
Fntb A G 12: 76,963,214 (GRCm39) Y399C probably damaging Het
Galns T C 8: 123,338,077 (GRCm39) M1V probably null Het
Galnt15 T C 14: 31,762,368 (GRCm39) F199L probably damaging Het
Gm8229 A T 14: 44,602,928 (GRCm39) H38L unknown Het
Magel2 T C 7: 62,029,747 (GRCm39) Y884H unknown Het
Miga1 A T 3: 151,989,468 (GRCm39) V473E probably damaging Het
Mrgprx1 C T 7: 47,671,562 (GRCm39) V62I possibly damaging Het
Mybl1 G A 1: 9,755,917 (GRCm39) P211S possibly damaging Het
Myo19 A G 11: 84,786,134 (GRCm39) H254R probably benign Het
Myo1h A G 5: 114,453,017 (GRCm39) T6A possibly damaging Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Or5b119 A T 19: 13,456,794 (GRCm39) M256K possibly damaging Het
Or8g20 T C 9: 39,395,614 (GRCm39) T309A probably benign Het
Psmd12 A G 11: 107,377,280 (GRCm39) E113G possibly damaging Het
Ptpn3 T C 4: 57,195,730 (GRCm39) D879G possibly damaging Het
Rufy3 A G 5: 88,785,166 (GRCm39) Q414R probably damaging Het
Slc14a2 A G 18: 78,197,317 (GRCm39) I813T probably damaging Het
Smok2a G T 17: 13,444,500 (GRCm39) A26S probably benign Het
Spsb3 T A 17: 25,110,550 (GRCm39) L459Q probably damaging Het
Tacc2 T C 7: 130,225,142 (GRCm39) V609A possibly damaging Het
Tmem185b C A 1: 119,454,365 (GRCm39) A42E probably damaging Het
Trim56 A G 5: 137,141,470 (GRCm39) V682A probably damaging Het
Trim75 T C 8: 65,435,488 (GRCm39) K321E possibly damaging Het
Ttc17 A C 2: 94,133,891 (GRCm39) M1098R possibly damaging Het
Ydjc C A 16: 16,965,545 (GRCm39) H136Q probably damaging Het
Zfp568 A T 7: 29,716,682 (GRCm39) H193L probably benign Het
Znhit1 A G 5: 137,011,254 (GRCm39) V153A probably benign 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
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'- AGGGCGACTGCTGTAATTAGTG -3'
(R):5'- ACACAGCTTGGTCCAACATTAC -3'

Sequencing Primer
(F):5'- GCGACTGCTGTAATTAGTGTAATTTC -3'
(R):5'- GCTTGGTCCAACATTACAAAAACTGG -3'
Posted On 2018-05-24