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 1 (alpha)
Synonyms EIF2B, D5Ertd406e, 26kDa, EIF2BA
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.973) question?
Stock # IGL01757
Quality Score
Status
Chromosome 5
Chromosomal Location 124570213-124579131 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124573140 bp (GRCm38)
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: 45,990,281 probably benign Het
Adamts9 T C 6: 92,796,159 Y1789C probably damaging Het
Cdcp1 A T 9: 123,180,001 Y537* probably null Het
Chic2 T C 5: 75,006,767 probably benign Het
Cpa5 G A 6: 30,625,927 probably benign Het
Csgalnact2 T C 6: 118,129,346 R4G probably damaging Het
Dnah10 T A 5: 124,768,927 V1510D probably benign Het
Dnm2 T A 9: 21,465,619 F91L probably damaging Het
Fgf17 A T 14: 70,636,980 L123Q probably damaging Het
Ifna15 T C 4: 88,558,085 K54R possibly damaging Het
Isg15 A G 4: 156,199,844 C76R probably damaging Het
Ldb2 A T 5: 44,541,867 probably benign Het
Lig4 A G 8: 9,971,185 I865T probably benign Het
Lrrc46 T C 11: 97,035,875 Y154C probably damaging Het
Lrrc8a G A 2: 30,255,525 R117H possibly damaging Het
Mrpl2 A G 17: 46,648,257 I96V probably damaging Het
Mtif2 G A 11: 29,541,337 probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Ptpn23 G A 9: 110,391,636 R269W probably damaging Het
Senp2 T C 16: 22,009,664 V8A probably benign Het
Slf1 T C 13: 77,084,440 D515G probably benign Het
Spc25 G A 2: 69,202,608 Q58* probably null Het
Sult2a5 T C 7: 13,665,154 S229P probably damaging Het
Tfap2d A G 1: 19,104,580 T86A probably benign Het
Trp53bp1 A G 2: 121,211,304 V1257A probably damaging Het
Wdr6 A G 9: 108,576,228 V152A possibly damaging Het
Zdhhc7 A G 8: 120,087,923 V49A probably benign Het
Zfp648 T C 1: 154,204,925 S277P probably damaging Het
Other mutations in Eif2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Eif2b1 APN 5 124576869 missense probably damaging 1.00
IGL01541:Eif2b1 APN 5 124576902 missense probably damaging 1.00
IGL03034:Eif2b1 APN 5 124571831 missense probably benign 0.01
R0066:Eif2b1 UTSW 5 124573795 splice site probably null
R0094:Eif2b1 UTSW 5 124571766 missense probably benign 0.05
R2655:Eif2b1 UTSW 5 124576854 missense probably damaging 0.99
R4842:Eif2b1 UTSW 5 124576908 missense probably damaging 0.98
R5347:Eif2b1 UTSW 5 124578799 intron probably benign
R5620:Eif2b1 UTSW 5 124579012 start codon destroyed probably null 1.00
R5801:Eif2b1 UTSW 5 124574712 critical splice acceptor site probably null
R6481:Eif2b1 UTSW 5 124577111 missense probably benign 0.34
R6659:Eif2b1 UTSW 5 124579108 unclassified probably benign
R6850:Eif2b1 UTSW 5 124579006 missense probably benign 0.15
R7075:Eif2b1 UTSW 5 124571251 missense probably damaging 1.00
R7418:Eif2b1 UTSW 5 124576830 missense probably benign 0.11
R8125:Eif2b1 UTSW 5 124579099 unclassified probably benign
R8144:Eif2b1 UTSW 5 124573145 missense probably damaging 0.99
R9473:Eif2b1 UTSW 5 124574614 nonsense probably null
R9526:Eif2b1 UTSW 5 124573804 missense probably benign 0.03
X0066:Eif2b1 UTSW 5 124579057 start gained probably benign
Posted On 2014-02-04