Incidental Mutation 'IGL01757:Eif2b1'
ID 153209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2b1
Ensembl Gene ENSMUSG00000029388
Gene Name eukaryotic translation initiation factor 2B, subunit alpha
Synonyms 26kDa, EIF2BA, EIF2B, D5Ertd406e
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL01757
Quality Score
Status
Chromosome 5
Chromosomal Location 124708277-124717194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124711203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 189 (K189E)
Ref Sequence ENSEMBL: ENSMUSP00000031334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031334] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000128920] [ENSMUST00000135361] [ENSMUST00000198318]
AlphaFold Q99LC8
Predicted Effect probably benign
Transcript: ENSMUST00000031334
AA Change: K189E

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: K189E

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: ENSMUST00000128920
SMART Domains Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 28 133 1e-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: ENSMUST00000152716
Predicted Effect probably benign
Transcript: ENSMUST00000198318
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,639,705 (GRCm39) probably benign Het
Adamts9 T C 6: 92,773,140 (GRCm39) Y1789C probably damaging Het
Cdcp1 A T 9: 123,009,066 (GRCm39) Y537* probably null Het
Chic2 T C 5: 75,167,428 (GRCm39) probably benign Het
Cpa5 G A 6: 30,625,926 (GRCm39) probably benign Het
Csgalnact2 T C 6: 118,106,307 (GRCm39) R4G probably damaging Het
Dnah10 T A 5: 124,845,991 (GRCm39) V1510D probably benign Het
Dnm2 T A 9: 21,376,915 (GRCm39) F91L probably damaging Het
Fgf17 A T 14: 70,874,420 (GRCm39) L123Q probably damaging Het
Ifna15 T C 4: 88,476,322 (GRCm39) K54R possibly damaging Het
Isg15 A G 4: 156,284,301 (GRCm39) C76R probably damaging Het
Ldb2 A T 5: 44,699,209 (GRCm39) probably benign Het
Lig4 A G 8: 10,021,185 (GRCm39) I865T probably benign Het
Lrrc46 T C 11: 96,926,701 (GRCm39) Y154C probably damaging Het
Lrrc8a G A 2: 30,145,537 (GRCm39) R117H possibly damaging Het
Mrpl2 A G 17: 46,959,183 (GRCm39) I96V probably damaging Het
Mtif2 G A 11: 29,491,337 (GRCm39) probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Ptpn23 G A 9: 110,220,704 (GRCm39) R269W probably damaging Het
Senp2 T C 16: 21,828,414 (GRCm39) V8A probably benign Het
Slf1 T C 13: 77,232,559 (GRCm39) D515G probably benign Het
Spc25 G A 2: 69,032,952 (GRCm39) Q58* probably null Het
Sult2a5 T C 7: 13,399,079 (GRCm39) S229P probably damaging Het
Tfap2d A G 1: 19,174,804 (GRCm39) T86A probably benign Het
Trp53bp1 A G 2: 121,041,785 (GRCm39) V1257A probably damaging Het
Wdr6 A G 9: 108,453,427 (GRCm39) V152A possibly damaging Het
Zdhhc7 A G 8: 120,814,662 (GRCm39) V49A probably benign Het
Zfp648 T C 1: 154,080,671 (GRCm39) S277P probably damaging 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
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
R0094:Eif2b1 UTSW 5 124,709,829 (GRCm39) missense probably benign 0.05
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 2014-02-04