Incidental Mutation 'IGL01395:Eif5b'
ID79401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif5b
Ensembl Gene ENSMUSG00000026083
Gene Nameeukaryotic translation initiation factor 5B
SynonymsA030003E17Rik, IF2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01395
Quality Score
Status
Chromosome1
Chromosomal Location37998010-38055579 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38037258 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 629 (I629T)
Ref Sequence ENSEMBL: ENSMUSP00000027252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027252]
Predicted Effect probably damaging
Transcript: ENSMUST00000027252
AA Change: I629T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: I629T

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,442,810 R52H probably benign Het
Alg8 T A 7: 97,378,176 Y84N possibly damaging Het
B3gnt4 T A 5: 123,511,068 F165L probably damaging Het
Calcrl T C 2: 84,368,575 I157V probably benign Het
Clpx T C 9: 65,301,851 S83P probably benign Het
Col7a1 G A 9: 108,983,912 probably benign Het
Cttn A G 7: 144,457,727 V115A probably damaging Het
Dcaf1 G A 9: 106,858,162 V770I possibly damaging Het
Ddx19a A G 8: 110,990,532 probably benign Het
Dennd6a T A 14: 26,616,901 Y175* probably null Het
Dhx58 C T 11: 100,703,926 G48D probably damaging Het
Dnah8 T A 17: 30,636,005 F178I probably benign Het
Frrs1 A G 3: 116,901,005 I492V probably benign Het
Gm16505 G A 13: 3,361,242 noncoding transcript Het
Golga4 G A 9: 118,535,373 G259D probably damaging Het
Gpatch8 T C 11: 102,480,708 H668R unknown Het
Gucy2c G T 6: 136,698,029 Q1019K probably damaging Het
Hivep2 T C 10: 14,132,800 probably null Het
Jph2 T C 2: 163,339,927 N439S probably benign Het
Knl1 T A 2: 119,071,566 D1249E probably damaging Het
Lrrc37a A G 11: 103,503,861 V246A probably benign Het
Mast1 T C 8: 84,912,815 D1295G possibly damaging Het
Mical2 T A 7: 112,323,585 M599K probably damaging Het
Nr3c2 T C 8: 76,908,848 S193P possibly damaging Het
Nr4a2 T A 2: 57,112,153 Q33L probably damaging Het
Nrap A T 19: 56,361,793 M514K probably damaging Het
Olfr1501 A T 19: 13,838,952 S74T probably damaging Het
Olfr198 T A 16: 59,202,097 T110S possibly damaging Het
Olfr412 T C 11: 74,364,887 F73L probably damaging Het
Pde5a T C 3: 122,817,955 I514T probably benign Het
Plxna4 A G 6: 32,239,433 V569A probably damaging Het
Ppm1k T C 6: 57,513,958 H324R probably benign Het
Prdm5 A G 6: 65,870,390 H155R possibly damaging Het
Prpf19 C T 19: 10,901,011 T287I probably damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Pygb C A 2: 150,801,583 Q97K probably benign Het
Rab27b T C 18: 69,985,217 K210E probably benign Het
Rttn T G 18: 89,129,770 N2182K possibly damaging Het
Rusc1 T C 3: 89,092,421 Q18R probably damaging Het
Stat4 C T 1: 52,011,874 R31W probably damaging Het
Tas2r135 T A 6: 42,405,912 C128* probably null Het
Tm9sf3 T C 19: 41,256,276 E54G probably damaging Het
Tmx1 A T 12: 70,460,477 probably null Het
Tnrc6c T A 11: 117,723,113 V859E probably benign Het
Uggt1 T C 1: 36,155,077 D1360G probably damaging Het
Other mutations in Eif5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Eif5b APN 1 38041719 missense probably damaging 1.00
IGL01377:Eif5b APN 1 38036098 missense probably benign
IGL01572:Eif5b APN 1 38022254 nonsense probably null
IGL01615:Eif5b APN 1 38045706 missense probably damaging 1.00
IGL02141:Eif5b APN 1 38032322 missense probably benign 0.09
IGL02260:Eif5b APN 1 38045456 missense possibly damaging 0.81
IGL02308:Eif5b APN 1 38041747 missense probably damaging 1.00
IGL03180:Eif5b APN 1 38036269 missense probably damaging 1.00
IGL03327:Eif5b APN 1 38041691 splice site probably benign
R0018:Eif5b UTSW 1 38018889 missense unknown
R0036:Eif5b UTSW 1 38019111 missense probably benign 0.23
R0137:Eif5b UTSW 1 38019243 missense probably benign 0.23
R0349:Eif5b UTSW 1 38032366 missense probably benign 0.18
R0606:Eif5b UTSW 1 38048893 missense probably damaging 1.00
R1056:Eif5b UTSW 1 38022167 missense unknown
R1225:Eif5b UTSW 1 38037628 missense probably damaging 1.00
R2043:Eif5b UTSW 1 38041819 missense probably damaging 1.00
R2163:Eif5b UTSW 1 38048794 missense probably benign 0.32
R2225:Eif5b UTSW 1 38019223 missense unknown
R2432:Eif5b UTSW 1 38019342 missense unknown
R2922:Eif5b UTSW 1 38018019 splice site probably benign
R4357:Eif5b UTSW 1 38050258 missense probably damaging 1.00
R4631:Eif5b UTSW 1 38041747 missense probably damaging 1.00
R4665:Eif5b UTSW 1 38045712 missense probably damaging 1.00
R4702:Eif5b UTSW 1 38018877 missense unknown
R4941:Eif5b UTSW 1 38051199 missense probably damaging 1.00
R4995:Eif5b UTSW 1 38051711 makesense probably null
R5020:Eif5b UTSW 1 38019069 nonsense probably null
R5175:Eif5b UTSW 1 38045387 missense probably damaging 1.00
R5375:Eif5b UTSW 1 38045754 missense possibly damaging 0.66
R5566:Eif5b UTSW 1 38045684 missense possibly damaging 0.90
R5566:Eif5b UTSW 1 38051247 missense probably damaging 1.00
R5853:Eif5b UTSW 1 38037307 missense probably damaging 1.00
R5978:Eif5b UTSW 1 37998280 unclassified probably null
R6315:Eif5b UTSW 1 38018033 missense unknown
R6376:Eif5b UTSW 1 38045679 missense probably damaging 0.98
R6388:Eif5b UTSW 1 38019000 missense unknown
R6444:Eif5b UTSW 1 38036211 missense probably damaging 1.00
R6455:Eif5b UTSW 1 38019027 missense probably benign 0.23
R6810:Eif5b UTSW 1 38046660 missense probably benign 0.45
R6877:Eif5b UTSW 1 38050239 missense probably damaging 1.00
R7130:Eif5b UTSW 1 38041776 missense probably damaging 1.00
R7180:Eif5b UTSW 1 38049074 missense probably damaging 0.98
R7439:Eif5b UTSW 1 38051637 missense probably benign 0.28
R7488:Eif5b UTSW 1 38050306 missense possibly damaging 0.69
Posted On2013-11-05