Incidental Mutation 'IGL01541:Eif2b1'
ID 90172
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 # IGL01541
Quality Score
Status
Chromosome 5
Chromosomal Location 124708277-124717194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124714965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 104 (C104R)
Ref Sequence ENSEMBL: ENSMUSP00000118760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333] [ENSMUST00000031334] [ENSMUST00000128920] [ENSMUST00000135163] [ENSMUST00000135361] [ENSMUST00000198318]
AlphaFold Q99LC8
Predicted Effect probably benign
Transcript: ENSMUST00000031333
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387

DomainStartEndE-ValueType
Pfam:Tfb4 8 287 2.1e-108 PFAM
low complexity region 299 306 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000031334
AA Change: C89R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: C89R

DomainStartEndE-ValueType
Pfam:IF-2B 14 293 2.3e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126466
Predicted Effect probably damaging
Transcript: ENSMUST00000128920
AA Change: C104R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388
AA Change: C104R

DomainStartEndE-ValueType
Pfam:IF-2B 28 133 1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135163
Predicted Effect possibly damaging
Transcript: ENSMUST00000135361
AA Change: C89R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388
AA Change: C89R

DomainStartEndE-ValueType
Pfam:IF-2B 13 172 2.4e-31 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000198318
AA Change: M43T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200670
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Adamts10 A G 17: 33,762,205 (GRCm39) S505G probably benign Het
Ahnak C T 19: 8,985,243 (GRCm39) H2176Y possibly damaging Het
Ash1l G T 3: 88,973,572 (GRCm39) D2544Y probably damaging Het
Ccdc88a T A 11: 29,350,283 (GRCm39) F88L probably benign Het
Cdc42bpa A T 1: 179,978,723 (GRCm39) probably null Het
Celsr3 T C 9: 108,708,907 (GRCm39) V1251A probably damaging Het
CN725425 T A 15: 91,129,955 (GRCm39) F273I possibly damaging Het
Ercc3 A T 18: 32,381,372 (GRCm39) D396V possibly damaging Het
Fga A T 3: 82,940,014 (GRCm39) D556V probably damaging Het
Frg1 C T 8: 41,863,362 (GRCm39) probably benign Het
Fto T C 8: 92,136,376 (GRCm39) Y217H probably damaging Het
Garin4 A T 1: 190,896,606 (GRCm39) Y12* probably null Het
Grin3a A T 4: 49,792,533 (GRCm39) V400E probably damaging Het
Gtse1 T A 15: 85,759,855 (GRCm39) L682* probably null Het
Igkv6-32 A G 6: 70,051,290 (GRCm39) I22T probably benign Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Lamp1 T C 8: 13,215,905 (GRCm39) C35R probably damaging Het
Lzts3 A T 2: 130,478,126 (GRCm39) L324Q probably damaging Het
Muc6 T A 7: 141,236,069 (GRCm39) R453* probably null Het
Naa35 T A 13: 59,748,777 (GRCm39) H132Q probably damaging Het
Pgm5 C A 19: 24,793,777 (GRCm39) G296W probably damaging Het
Pkd1 T A 17: 24,805,272 (GRCm39) C3275S probably damaging Het
Podxl2 A G 6: 88,826,331 (GRCm39) L325P probably benign Het
Prom2 A G 2: 127,371,050 (GRCm39) probably null Het
Rab12 T C 17: 66,804,404 (GRCm39) S185G probably damaging Het
Rnf43 T G 11: 87,621,046 (GRCm39) M313R probably null Het
Rusc2 T C 4: 43,415,840 (GRCm39) V382A probably benign Het
Sbno1 A T 5: 124,516,618 (GRCm39) probably benign Het
Smg6 T C 11: 74,816,770 (GRCm39) I10T probably benign Het
Smpd1 T C 7: 105,205,033 (GRCm39) F304S possibly damaging Het
Spta1 G A 1: 174,044,725 (GRCm39) V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 (GRCm39) I722F possibly damaging Het
Topors T C 4: 40,262,364 (GRCm39) T307A possibly damaging Het
Ttn C T 2: 76,807,502 (GRCm39) R77Q probably damaging Het
Vmn1r210 C T 13: 23,011,778 (GRCm39) M169I probably benign Het
Zc3h4 A G 7: 16,168,257 (GRCm39) S789G unknown Het
Zfp629 G T 7: 127,211,917 (GRCm39) probably benign Het
Zfp977 C A 7: 42,230,156 (GRCm39) R123I probably benign Het
Other mutations in Eif2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Eif2b1 APN 5 124,714,932 (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
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 2013-12-03