Incidental Mutation 'IGL00946:Eif2b5'
ID29168
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: 0.970) question?
Stock #IGL00946
Quality Score
Status
Chromosome16
Chromosomal Location20498817-20509323 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 20505252 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 448 (H448Q)
Ref Sequence ENSEMBL: ENSMUSP00000003320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]
Predicted Effect probably benign
Transcript: ENSMUST00000003320
AA Change: H448Q

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: H448Q

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 unknown
Transcript: ENSMUST00000231315
AA Change: H27Q
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 133,063,062 I538T probably benign Het
Bmp10 A T 6: 87,434,362 Q379L probably damaging Het
Cacna2d4 G A 6: 119,271,915 A446T possibly damaging Het
Chrdl1 G A X: 143,294,168 probably benign Het
Crtc2 A G 3: 90,260,805 H370R probably damaging Het
Cubn T C 2: 13,456,623 T698A probably damaging Het
Deup1 T C 9: 15,561,238 T593A possibly damaging Het
Dus1l T C 11: 120,793,875 T157A probably damaging Het
Efcab6 T C 15: 84,018,696 N151S probably benign Het
Epha8 T C 4: 136,945,810 D221G probably damaging Het
Eprs G A 1: 185,407,701 G996S probably benign Het
Fn1 G A 1: 71,645,540 probably benign Het
Gfpt1 A G 6: 87,050,942 Y10C probably damaging Het
Ghitm C T 14: 37,125,246 M290I probably benign Het
Gpd2 T C 2: 57,268,084 probably null Het
Htr2a T A 14: 74,706,142 Y387* probably null Het
Lrrc7 T A 3: 158,161,356 Q916L probably benign Het
Mfsd9 A C 1: 40,773,780 D458E probably benign Het
Nmb T C 7: 80,902,460 I123M probably benign Het
Nrap A T 19: 56,340,626 probably null Het
Olfr1299 T A 2: 111,665,144 M306K probably benign Het
Olfr1406 A T 1: 173,183,623 D270E probably benign Het
Olfr984 A G 9: 40,101,154 I112T probably benign Het
Pola1 T C X: 93,480,539 I1165M probably benign Het
Sdk1 G T 5: 142,084,613 probably null Het
Selenon T A 4: 134,539,726 probably benign Het
Stk39 T A 2: 68,314,564 T389S possibly damaging Het
Tmx3 A G 18: 90,540,054 E410G possibly damaging Het
Utp20 A T 10: 88,748,315 V2660E possibly damaging Het
Vps52 T C 17: 33,956,958 L40P possibly damaging Het
Wdr25 C T 12: 109,025,027 S380F possibly damaging Het
Xpo7 T C 14: 70,671,658 T808A probably benign Het
Zc3h14 T C 12: 98,759,883 probably benign Het
Other mutations in Eif2b5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Eif2b5 APN 16 20500296 nonsense probably null
IGL01467:Eif2b5 APN 16 20508964 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
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 On2013-04-17