Incidental Mutation 'IGL03238:Eif2b2'
ID 414181
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 # IGL03238
Quality Score
Status
Chromosome 12
Chromosomal Location 85266255-85273402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85270173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000004910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004910] [ENSMUST00000136495] [ENSMUST00000140900]
AlphaFold Q99LD9
Predicted Effect probably benign
Transcript: ENSMUST00000004910
AA Change: T238A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000004910
Gene: ENSMUSG00000004788
AA Change: T238A

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
SMART Domains Protein: ENSMUSP00000122720
Gene: ENSMUSG00000004788

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
SMART Domains Protein: ENSMUSP00000122954
Gene: ENSMUSG00000004788

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,339 (GRCm39) T285P probably benign Het
Abcf1 T C 17: 36,274,215 (GRCm39) K186E probably damaging Het
Adam3 T C 8: 25,177,981 (GRCm39) probably null Het
Art1 T C 7: 101,759,956 (GRCm39) V85A possibly damaging Het
Ccdc110 A G 8: 46,394,859 (GRCm39) H250R probably benign Het
Cyp3a13 T A 5: 137,897,151 (GRCm39) I388F probably damaging Het
Dnah11 C T 12: 118,073,633 (GRCm39) V1425M probably damaging Het
Donson G A 16: 91,478,134 (GRCm39) Q22* probably null Het
Emc2 T A 15: 43,371,249 (GRCm39) probably null Het
Fkbp4 A T 6: 128,411,720 (GRCm39) V123E probably damaging Het
Frem2 A T 3: 53,563,682 (GRCm39) M275K possibly damaging Het
Gcat T A 15: 78,920,210 (GRCm39) probably benign Het
Gemin2 G A 12: 59,063,748 (GRCm39) probably benign Het
Ilf3 T A 9: 21,303,646 (GRCm39) V169E probably damaging Het
Klra17 T C 6: 129,845,773 (GRCm39) H147R probably benign Het
Lama5 A G 2: 179,830,367 (GRCm39) I1880T probably benign Het
Lzts1 T C 8: 69,591,446 (GRCm39) D234G probably damaging Het
Map3k4 G A 17: 12,490,045 (GRCm39) P462L probably benign Het
Marchf6 C A 15: 31,462,087 (GRCm39) probably benign Het
Mcm6 A T 1: 128,283,257 (GRCm39) F83I probably benign Het
Mtpn A G 6: 35,499,708 (GRCm39) L32P probably damaging Het
Mybpc3 A T 2: 90,962,004 (GRCm39) I841F probably damaging Het
Ndst2 G T 14: 20,778,572 (GRCm39) H399N probably damaging Het
Npat G T 9: 53,481,726 (GRCm39) V1145F probably damaging Het
Or51b6 G A 7: 103,555,717 (GRCm39) A21T probably benign Het
P2ry1 T A 3: 60,911,916 (GRCm39) S352T probably damaging Het
Plaa T C 4: 94,472,133 (GRCm39) T326A probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Prb1b T A 6: 132,289,308 (GRCm39) Q172L unknown Het
Setd1a C T 7: 127,384,718 (GRCm39) T523I possibly damaging Het
Sgcz C T 8: 38,030,294 (GRCm39) probably null Het
Slc12a2 T C 18: 58,047,306 (GRCm39) Y740H possibly damaging Het
Stab2 A G 10: 86,690,985 (GRCm39) C745R probably damaging Het
Tmem101 A T 11: 102,046,611 (GRCm39) L86Q probably damaging Het
Tmtc3 A C 10: 100,313,702 (GRCm39) F57V probably damaging Het
Vps50 A G 6: 3,594,771 (GRCm39) K778R possibly damaging Het
Washc5 G A 15: 59,218,691 (GRCm39) T692M probably damaging Het
Zc3hav1 A T 6: 38,309,685 (GRCm39) V379D probably damaging Het
Zfp142 G T 1: 74,615,437 (GRCm39) R459S probably benign Het
Zfp512b A G 2: 181,231,553 (GRCm39) V199A probably damaging Het
Other mutations in Eif2b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Eif2b2 APN 12 85,266,608 (GRCm39) missense probably benign 0.00
IGL03156:Eif2b2 APN 12 85,266,495 (GRCm39) missense probably damaging 1.00
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 2016-08-02