Incidental Mutation 'IGL01979:Eif2b2'
ID 181803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2b2
Ensembl Gene ENSMUSG00000004788
Gene Name eukaryotic translation initiation factor 2B, subunit 2 beta
Synonyms EIF2B, EIF-2Bbeta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01979
Quality Score
Status
Chromosome 12
Chromosomal Location 85266255-85273402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85266608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 59 (D59G)
Ref Sequence ENSEMBL: ENSMUSP00000122720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004910] [ENSMUST00000136495] [ENSMUST00000140900]
AlphaFold Q99LD9
Predicted Effect probably benign
Transcript: ENSMUST00000004910
AA Change: D59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004910
Gene: ENSMUSG00000004788
AA Change: D59G

DomainStartEndE-ValueType
Pfam:IF-2B 27 333 3.2e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130760
Predicted Effect probably benign
Transcript: ENSMUST00000136495
AA Change: D59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122720
Gene: ENSMUSG00000004788
AA Change: D59G

DomainStartEndE-ValueType
Pfam:IF-2B 27 232 2e-51 PFAM
Pfam:IF-2B 229 287 4.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140900
AA Change: D59G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122954
Gene: ENSMUSG00000004788
AA Change: D59G

DomainStartEndE-ValueType
Pfam:IF-2B 27 228 1.7e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151925
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. Mutations in the human gene are associated with ovarioleukodystrophy and leukoencephalopathy with vanishing white matter. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,584,971 (GRCm39) L394* probably null Het
Cdk2ap1 C T 5: 124,486,772 (GRCm39) V57M probably damaging Het
Csnk2b T A 17: 35,336,992 (GRCm39) N65I possibly damaging Het
Dennd4a G A 9: 64,801,691 (GRCm39) E945K probably benign Het
Ero1a A T 14: 45,525,201 (GRCm39) N441K probably damaging Het
Fam91a1 A G 15: 58,304,433 (GRCm39) D383G probably damaging Het
Fbxl7 C A 15: 26,789,649 (GRCm39) S26I probably damaging Het
Il20 A T 1: 130,838,839 (GRCm39) I42K probably damaging Het
Nav3 A G 10: 109,540,790 (GRCm39) F1947L probably benign Het
Ncapd3 T A 9: 26,983,261 (GRCm39) probably null Het
Numb G T 12: 83,889,051 (GRCm39) H23N probably damaging Het
Or10q3 G A 19: 11,848,587 (GRCm39) probably benign Het
Or5p79 A G 7: 108,221,648 (GRCm39) I210V probably benign Het
Ppp1r1b C T 11: 98,247,666 (GRCm39) T111I probably damaging Het
Rad50 G A 11: 53,577,005 (GRCm39) Q528* probably null Het
Scara3 A T 14: 66,168,412 (GRCm39) S402T probably benign Het
Septin3 A G 15: 82,168,593 (GRCm39) Y132C probably damaging Het
Sim2 C A 16: 93,924,341 (GRCm39) N495K possibly damaging Het
Slc9b1 A G 3: 135,077,743 (GRCm39) probably null Het
Tanc2 A G 11: 105,667,746 (GRCm39) D109G probably benign Het
Tex55 A C 16: 38,648,255 (GRCm39) S285A possibly damaging Het
Traf1 T C 2: 34,833,905 (GRCm39) I404V probably benign Het
Vmn2r68 C A 7: 84,871,325 (GRCm39) V653L probably benign Het
Wdr93 A T 7: 79,426,400 (GRCm39) Q555L probably benign Het
Other mutations in Eif2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03156:Eif2b2 APN 12 85,266,495 (GRCm39) missense probably damaging 1.00
IGL03238:Eif2b2 APN 12 85,270,173 (GRCm39) missense probably benign 0.01
R0471:Eif2b2 UTSW 12 85,266,957 (GRCm39) missense probably benign
R0785:Eif2b2 UTSW 12 85,268,335 (GRCm39) missense probably damaging 1.00
R1368:Eif2b2 UTSW 12 85,270,230 (GRCm39) missense probably damaging 0.98
R1442:Eif2b2 UTSW 12 85,266,360 (GRCm39) missense probably benign 0.00
R3162:Eif2b2 UTSW 12 85,266,435 (GRCm39) missense probably benign
R3162:Eif2b2 UTSW 12 85,266,435 (GRCm39) missense probably benign
R5931:Eif2b2 UTSW 12 85,269,561 (GRCm39) missense probably damaging 1.00
R6954:Eif2b2 UTSW 12 85,272,817 (GRCm39) missense probably damaging 0.98
R9038:Eif2b2 UTSW 12 85,266,897 (GRCm39) missense probably benign 0.01
Z1177:Eif2b2 UTSW 12 85,270,189 (GRCm39) missense probably damaging 1.00
Z1177:Eif2b2 UTSW 12 85,266,338 (GRCm39) start codon destroyed probably null 0.97
Posted On 2014-05-07