Incidental Mutation 'IGL01467:Eif2b5'
ID 88127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2b5
Ensembl Gene ENSMUSG00000003235
Gene Name eukaryotic translation initiation factor 2B, subunit 5 epsilon
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL01467
Quality Score
Status
Chromosome 16
Chromosomal Location 20317567-20328073 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 20327714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 154 (C154*)
Ref Sequence ENSEMBL: ENSMUSP00000121169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]
AlphaFold Q8CHW4
Predicted Effect probably benign
Transcript: ENSMUST00000003320
AA Change: Q700K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: Q700K

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
Pfam:Hexapep 341 372 9.8e-5 PFAM
Pfam:Hexapep 361 389 6.1e-6 PFAM
low complexity region 517 526 N/A INTRINSIC
eIF5C 625 712 8.43e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134992
Predicted Effect probably null
Transcript: ENSMUST00000148714
AA Change: C154*
SMART Domains Protein: ENSMUSP00000121169
Gene: ENSMUSG00000003235
AA Change: C154*

DomainStartEndE-ValueType
Pfam:W2 82 150 7e-15 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000231315
AA Change: Q285K
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,657,791 (GRCm39) C501R probably damaging Het
Atxn1 C T 13: 45,720,669 (GRCm39) V409I probably damaging Het
Cdkn2aip T C 8: 48,164,247 (GRCm39) R489G probably damaging Het
Cgn A G 3: 94,686,898 (GRCm39) S135P probably damaging Het
Cpne3 C A 4: 19,553,737 (GRCm39) C98F probably benign Het
Cyp2c23 T C 19: 44,003,512 (GRCm39) N221S possibly damaging Het
Dnah8 A G 17: 30,998,890 (GRCm39) N3525S probably damaging Het
Efr3b T C 12: 4,019,597 (GRCm39) E560G probably damaging Het
Eps8l2 A G 7: 140,941,514 (GRCm39) E595G probably damaging Het
Gm9839 A T 1: 32,559,032 (GRCm39) I350N probably damaging Het
Hdlbp A T 1: 93,345,420 (GRCm39) probably benign Het
Il18rap A T 1: 40,587,799 (GRCm39) I466F probably damaging Het
Itpr1 T A 6: 108,465,457 (GRCm39) I2123N probably damaging Het
Jakmip2 A G 18: 43,715,352 (GRCm39) I58T probably benign Het
Kdm2a A G 19: 4,374,435 (GRCm39) S899P probably damaging Het
Mmp15 T A 8: 96,092,959 (GRCm39) F113I probably benign Het
Neb T C 2: 52,049,499 (GRCm39) H6448R possibly damaging Het
Or1j12 C T 2: 36,342,656 (GRCm39) R20* probably null Het
Or2m13 T C 16: 19,226,539 (GRCm39) T77A probably benign Het
Pdgfc A G 3: 81,116,398 (GRCm39) T251A probably damaging Het
Pdgfra T C 5: 75,346,292 (GRCm39) probably null Het
Pdpk1 A G 17: 24,307,144 (GRCm39) S269P probably damaging Het
Pip4k2c A T 10: 127,035,498 (GRCm39) F347L probably benign Het
Platr26 T C 2: 71,553,656 (GRCm39) noncoding transcript Het
Pnisr C T 4: 21,874,650 (GRCm39) probably benign Het
Psma5-ps A G 10: 85,149,986 (GRCm39) noncoding transcript Het
Rab3gap1 T A 1: 127,858,121 (GRCm39) probably null Het
Scn10a C T 9: 119,487,478 (GRCm39) V619I probably benign Het
Slc38a11 T A 2: 65,147,200 (GRCm39) T426S probably benign Het
Son T C 16: 91,454,165 (GRCm39) S971P possibly damaging Het
Stk33 T A 7: 108,928,796 (GRCm39) I239L probably damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem270 G T 5: 134,930,815 (GRCm39) probably benign Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zfp750 A T 11: 121,403,767 (GRCm39) C369* probably null Het
Other mutations in Eif2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Eif2b5 APN 16 20,324,002 (GRCm39) missense probably benign 0.19
IGL01073:Eif2b5 APN 16 20,319,046 (GRCm39) nonsense probably null
IGL02754:Eif2b5 APN 16 20,321,536 (GRCm39) missense possibly damaging 0.50
IGL03286:Eif2b5 APN 16 20,321,012 (GRCm39) missense probably damaging 1.00
R0569:Eif2b5 UTSW 16 20,321,303 (GRCm39) missense probably benign 0.13
R1321:Eif2b5 UTSW 16 20,323,439 (GRCm39) nonsense probably null
R1647:Eif2b5 UTSW 16 20,321,335 (GRCm39) missense possibly damaging 0.77
R1648:Eif2b5 UTSW 16 20,321,335 (GRCm39) missense possibly damaging 0.77
R1897:Eif2b5 UTSW 16 20,325,787 (GRCm39) missense probably damaging 0.99
R2231:Eif2b5 UTSW 16 20,323,520 (GRCm39) missense probably benign
R3196:Eif2b5 UTSW 16 20,324,272 (GRCm39) missense probably benign
R4423:Eif2b5 UTSW 16 20,320,469 (GRCm39) missense probably benign 0.10
R4776:Eif2b5 UTSW 16 20,318,983 (GRCm39) missense probably damaging 1.00
R5240:Eif2b5 UTSW 16 20,320,148 (GRCm39) missense possibly damaging 0.49
R5828:Eif2b5 UTSW 16 20,321,536 (GRCm39) missense possibly damaging 0.50
R5920:Eif2b5 UTSW 16 20,317,694 (GRCm39) missense unknown
R5925:Eif2b5 UTSW 16 20,326,874 (GRCm39) missense probably benign 0.02
R6717:Eif2b5 UTSW 16 20,324,033 (GRCm39) missense probably damaging 0.96
R6915:Eif2b5 UTSW 16 20,321,500 (GRCm39) missense possibly damaging 0.83
R7396:Eif2b5 UTSW 16 20,324,887 (GRCm39) missense possibly damaging 0.69
R8046:Eif2b5 UTSW 16 20,325,154 (GRCm39) missense possibly damaging 0.88
R8196:Eif2b5 UTSW 16 20,321,306 (GRCm39) missense probably damaging 0.99
R8503:Eif2b5 UTSW 16 20,317,730 (GRCm39) missense probably benign 0.23
R8532:Eif2b5 UTSW 16 20,323,956 (GRCm39) missense probably damaging 0.99
R9222:Eif2b5 UTSW 16 20,321,382 (GRCm39) nonsense probably null
R9336:Eif2b5 UTSW 16 20,324,027 (GRCm39) missense probably damaging 1.00
Z1187:Eif2b5 UTSW 16 20,317,671 (GRCm39) missense unknown
Z1192:Eif2b5 UTSW 16 20,317,671 (GRCm39) missense unknown
Posted On 2013-11-18