Incidental Mutation 'IGL01467:Eif2b5'
ID88127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2b5
Ensembl Gene ENSMUSG00000003235
Gene Nameeukaryotic translation initiation factor 2B, subunit 5 epsilon
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL01467
Quality Score
Status
Chromosome16
Chromosomal Location20498817-20509323 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 20508964 bp
ZygosityHeterozygous
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]
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: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Eif2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Eif2b5 APN 16 20505252 missense probably benign 0.19
IGL01073:Eif2b5 APN 16 20500296 nonsense probably null
IGL02754:Eif2b5 APN 16 20502786 missense possibly damaging 0.50
IGL03286:Eif2b5 APN 16 20502262 missense probably damaging 1.00
R0569:Eif2b5 UTSW 16 20502553 missense probably benign 0.13
R1321:Eif2b5 UTSW 16 20504689 nonsense probably null
R1647:Eif2b5 UTSW 16 20502585 missense possibly damaging 0.77
R1648:Eif2b5 UTSW 16 20502585 missense possibly damaging 0.77
R1897:Eif2b5 UTSW 16 20507037 missense probably damaging 0.99
R2231:Eif2b5 UTSW 16 20504770 missense probably benign
R3196:Eif2b5 UTSW 16 20505522 missense probably benign
R4423:Eif2b5 UTSW 16 20501719 missense probably benign 0.10
R4776:Eif2b5 UTSW 16 20500233 missense probably damaging 1.00
R5240:Eif2b5 UTSW 16 20501398 missense possibly damaging 0.49
R5828:Eif2b5 UTSW 16 20502786 missense possibly damaging 0.50
R5920:Eif2b5 UTSW 16 20498944 missense unknown
R5925:Eif2b5 UTSW 16 20508124 missense probably benign 0.02
R6717:Eif2b5 UTSW 16 20505283 missense probably damaging 0.96
R6915:Eif2b5 UTSW 16 20502750 missense possibly damaging 0.83
R7396:Eif2b5 UTSW 16 20506137 missense possibly damaging 0.69
Posted On2013-11-18