Incidental Mutation 'R1648:Eif2b5'
ID 174057
Institutional Source Beutler Lab
Gene Symbol Eif2b5
Ensembl Gene ENSMUSG00000003235
Gene Name eukaryotic translation initiation factor 2B, subunit 5 epsilon
Synonyms
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20317567-20328073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20321335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 296 (V296A)
Ref Sequence ENSEMBL: ENSMUSP00000003320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]
AlphaFold Q8CHW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000003320
AA Change: V296A

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: V296A

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
Meta Mutation Damage Score 0.5645 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably damaging 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
IGL01467:Eif2b5 APN 16 20,327,714 (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
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
Predicted Primers PCR Primer
(F):5'- ACAGGTAGCTCAGCTCTTCACAGAC -3'
(R):5'- CAAAAGCACATTTTCCTCCAGGACG -3'

Sequencing Primer
(F):5'- GAGCTTCCGAAACCTCTAGTAG -3'
(R):5'- AATGAGTGTAGCTCTGGGTG -3'
Posted On 2014-04-24