Incidental Mutation 'R0094:Eif2b1'
ID 17105
Institutional Source Beutler Lab
Gene Symbol Eif2b1
Ensembl Gene ENSMUSG00000029388
Gene Name eukaryotic translation initiation factor 2B, subunit alpha
Synonyms 26kDa, EIF2BA, EIF2B, D5Ertd406e
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R0094 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 124708277-124717194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124709829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 250 (F250L)
Ref Sequence ENSEMBL: ENSMUSP00000031334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031334] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000131631] [ENSMUST00000135361] [ENSMUST00000198318]
AlphaFold Q99LC8
Predicted Effect probably benign
Transcript: ENSMUST00000031334
AA Change: F250L

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: F250L

DomainStartEndE-ValueType
Pfam:IF-2B 14 293 2.3e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071057
SMART Domains Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389

DomainStartEndE-ValueType
DEXDc 28 245 3.15e-51 SMART
HELICc 281 363 3.69e-25 SMART
DUF4217 402 465 1.44e-26 SMART
low complexity region 491 506 N/A INTRINSIC
low complexity region 517 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111438
SMART Domains Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389

DomainStartEndE-ValueType
DEXDc 28 245 3.15e-51 SMART
HELICc 281 363 3.69e-25 SMART
DUF4217 398 461 1.44e-26 SMART
low complexity region 487 502 N/A INTRINSIC
low complexity region 513 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131631
SMART Domains Protein: ENSMUSP00000143462
Gene: ENSMUSG00000029389

DomainStartEndE-ValueType
Pfam:DEAD 33 125 6.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135361
SMART Domains Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 13 172 2.4e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152716
Predicted Effect probably benign
Transcript: ENSMUST00000198318
Meta Mutation Damage Score 0.0822 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
MGI Phenotype FUNCTION: This gene encodes the alpha subunit of the eukaryotic translation initiation factor complex 2B (eIF2B). The eIF2B complex is a heterodecamer comprised of two molecules each of alpha, beta, gamma, delta and epsilon subunits. The eIF2B complex is a critical regulator of protein synthesis acting as the guanine nucleotide exchange factor for eIF2 to enable the formation of ternary complex that is required for the initiation of mRNA translation. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,203,427 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,260,236 (GRCm39) noncoding transcript Het
4931429L15Rik T A 9: 46,218,184 (GRCm39) T185S possibly damaging Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Ankrd12 A T 17: 66,277,171 (GRCm39) D2034E probably damaging Het
B3gnt2 T C 11: 22,786,655 (GRCm39) R178G probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Ctsj A C 13: 61,151,519 (GRCm39) probably null Het
Dap3 T A 3: 88,834,335 (GRCm39) M294L probably benign Het
Ddias T C 7: 92,509,108 (GRCm39) N269S possibly damaging Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Emc1 T A 4: 139,087,796 (GRCm39) F100Y probably damaging Het
Hfm1 T A 5: 107,065,344 (GRCm39) M112L probably benign Het
Lipg T C 18: 75,078,917 (GRCm39) Y445C probably benign Het
Lrp1b T C 2: 41,172,042 (GRCm39) probably benign Het
Ltbp2 A G 12: 84,846,200 (GRCm39) Y897H probably damaging Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mvd C T 8: 123,166,442 (GRCm39) R65H probably benign Het
Mybpc2 A G 7: 44,166,328 (GRCm39) Y221H probably damaging Het
Nbeal1 T A 1: 60,344,468 (GRCm39) I2323N possibly damaging Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Otol1 G A 3: 69,926,016 (GRCm39) A64T probably benign Het
Pcdh8 G T 14: 80,005,588 (GRCm39) D933E probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rad54b T C 4: 11,599,681 (GRCm39) V72A possibly damaging Het
Ranbp3 A G 17: 57,016,338 (GRCm39) probably benign Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Serping1 T G 2: 84,603,620 (GRCm39) R140S probably benign Het
Slc34a2 T C 5: 53,221,310 (GRCm39) F252S probably benign Het
Spata45 A G 1: 190,772,059 (GRCm39) probably benign Het
Sptan1 T C 2: 29,896,635 (GRCm39) S1174P probably benign Het
Ss18l2 T C 9: 121,541,699 (GRCm39) L64P probably benign Het
Tmem81 A G 1: 132,435,787 (GRCm39) I198V probably benign Het
Trappc9 A T 15: 72,894,929 (GRCm38) probably benign Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Zzef1 C T 11: 72,708,791 (GRCm39) T130I probably benign Het
Other mutations in Eif2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Eif2b1 APN 5 124,714,932 (GRCm39) missense probably damaging 1.00
IGL01541:Eif2b1 APN 5 124,714,965 (GRCm39) missense probably damaging 1.00
IGL01757:Eif2b1 APN 5 124,711,203 (GRCm39) missense probably benign 0.14
IGL03034:Eif2b1 APN 5 124,709,894 (GRCm39) missense probably benign 0.01
R0066:Eif2b1 UTSW 5 124,711,858 (GRCm39) splice site probably null
R2655:Eif2b1 UTSW 5 124,714,917 (GRCm39) missense probably damaging 0.99
R4842:Eif2b1 UTSW 5 124,714,971 (GRCm39) missense probably damaging 0.98
R5347:Eif2b1 UTSW 5 124,716,862 (GRCm39) intron probably benign
R5620:Eif2b1 UTSW 5 124,717,075 (GRCm39) start codon destroyed probably null 1.00
R5801:Eif2b1 UTSW 5 124,712,775 (GRCm39) critical splice acceptor site probably null
R6481:Eif2b1 UTSW 5 124,715,174 (GRCm39) missense probably benign 0.34
R6659:Eif2b1 UTSW 5 124,717,171 (GRCm39) unclassified probably benign
R6850:Eif2b1 UTSW 5 124,717,069 (GRCm39) missense probably benign 0.15
R7075:Eif2b1 UTSW 5 124,709,314 (GRCm39) missense probably damaging 1.00
R7418:Eif2b1 UTSW 5 124,714,893 (GRCm39) missense probably benign 0.11
R8125:Eif2b1 UTSW 5 124,717,162 (GRCm39) unclassified probably benign
R8144:Eif2b1 UTSW 5 124,711,208 (GRCm39) missense probably damaging 0.99
R9473:Eif2b1 UTSW 5 124,712,677 (GRCm39) nonsense probably null
R9526:Eif2b1 UTSW 5 124,711,867 (GRCm39) missense probably benign 0.03
X0066:Eif2b1 UTSW 5 124,717,120 (GRCm39) start gained probably benign
Posted On 2013-01-20