Incidental Mutation 'IGL02754:Eif2b5'
ID306344
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: 0.966) question?
Stock #IGL02754
Quality Score
Status
Chromosome16
Chromosomal Location20498817-20509323 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 20502786 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 363 (V363G)
Ref Sequence ENSEMBL: ENSMUSP00000003320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003320
AA Change: V363G

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: V363G

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 probably benign
Transcript: ENSMUST00000148714
SMART Domains Protein: ENSMUSP00000121169
Gene: ENSMUSG00000003235

DomainStartEndE-ValueType
Pfam:W2 82 150 7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231315
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,596,626 R405* probably null Het
AW551984 C T 9: 39,593,328 probably null Het
BC100530 G A 16: 36,359,537 P73S probably benign Het
Bdp1 T C 13: 100,060,973 E968G possibly damaging Het
Ccdc68 T C 18: 69,943,864 probably null Het
Ccdc87 T A 19: 4,839,861 L127H probably damaging Het
Cdk5r1 G T 11: 80,477,743 A79S probably benign Het
Cdyl A T 13: 35,683,742 probably benign Het
Cfdp1 A G 8: 111,854,134 probably benign Het
Chil1 A T 1: 134,183,601 I62F probably damaging Het
Cnot1 A T 8: 95,755,078 I789K probably benign Het
Cobl T C 11: 12,254,371 K695R probably damaging Het
Cobl C A 11: 12,254,370 K752N probably damaging Het
Dcaf6 T C 1: 165,338,346 probably null Het
Ece2 A T 16: 20,632,648 I197F probably damaging Het
Gca T C 2: 62,672,358 S37P probably benign Het
Ghsr A C 3: 27,372,496 I234L probably damaging Het
Grin3b A T 10: 79,972,889 I158F possibly damaging Het
Gtf2h2 A T 13: 100,481,239 D178E probably damaging Het
Herc2 A G 7: 56,097,498 E461G probably damaging Het
Hsph1 T A 5: 149,623,592 N531I possibly damaging Het
Insl6 G T 19: 29,325,129 Q63K probably benign Het
Lrp1b T C 2: 40,702,794 N3771S probably benign Het
Lrp8 T C 4: 107,834,755 probably null Het
Lvrn C T 18: 46,890,904 Q773* probably null Het
Mterf1b T C 5: 4,196,478 F40L possibly damaging Het
Nrg1 G A 8: 31,826,363 probably benign Het
Olfr1337 T A 4: 118,781,920 I222F possibly damaging Het
Olfr351 T A 2: 36,860,220 I43F probably damaging Het
Olfr507 T C 7: 108,622,673 I287T possibly damaging Het
Pax5 C T 4: 44,570,059 V319I probably damaging Het
Plcz1 T A 6: 140,010,581 T321S probably benign Het
Plekha6 A G 1: 133,284,938 E660G probably damaging Het
Prep T C 10: 45,067,332 M1T probably null Het
Prickle1 C T 15: 93,501,153 S598N possibly damaging Het
Prtn3 A G 10: 79,881,098 Q99R probably benign Het
Rad50 A G 11: 53,702,056 V89A probably damaging Het
Ret T C 6: 118,176,252 Y485C probably benign Het
Setd2 T A 9: 110,550,056 F980I possibly damaging Het
Slc44a4 A G 17: 34,921,303 Y228C probably damaging Het
Tex10 C T 4: 48,435,028 C779Y possibly damaging Het
Tfdp2 T G 9: 96,317,539 S285A probably benign Het
Thsd4 T A 9: 59,989,097 probably benign Het
Tmem106a A C 11: 101,590,393 E242D probably benign Het
Ttc22 T C 4: 106,638,472 V341A probably benign Het
Ubr4 T A 4: 139,410,784 S1151T probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Vmn1r206 A T 13: 22,620,890 L49* probably null Het
Vmn1r233 A T 17: 20,994,624 F21L probably benign Het
Vmn1r233 A T 17: 20,994,625 F21Y probably benign Het
Vmn2r15 A T 5: 109,293,268 C241* probably null Het
Zmym6 T A 4: 127,109,971 probably benign 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
IGL01467:Eif2b5 APN 16 20508964 nonsense probably null
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
R8046:Eif2b5 UTSW 16 20506404 missense possibly damaging 0.88
R8196:Eif2b5 UTSW 16 20502556 missense probably damaging 0.99
R8503:Eif2b5 UTSW 16 20498980 missense probably benign 0.23
R8532:Eif2b5 UTSW 16 20505206 missense probably damaging 0.99
Z1187:Eif2b5 UTSW 16 20498921 missense unknown
Z1192:Eif2b5 UTSW 16 20498921 missense unknown
Posted On2015-04-16