Incidental Mutation 'R3196:Eif2b5'
ID 267677
Institutional Source Beutler Lab
Gene Symbol Eif2b5
Ensembl Gene ENSMUSG00000003235
Gene Name eukaryotic translation initiation factor 2B, subunit 5 epsilon
Synonyms
MMRRC Submission 040617-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R3196 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 20317567-20328073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20324272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 498 (V498A)
Ref Sequence ENSEMBL: ENSMUSP00000003320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003320] [ENSMUST00000148714]
AlphaFold Q8CHW4
Predicted Effect probably benign
Transcript: ENSMUST00000003320
AA Change: V498A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: V498A

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: V83A
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,132 (GRCm39) N158K probably benign Het
Acnat1 G C 4: 49,447,457 (GRCm39) P357A probably damaging Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Amelx T C X: 167,964,826 (GRCm39) probably benign Het
Brap G A 5: 121,803,259 (GRCm39) V136I possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Csk A T 9: 57,537,556 (GRCm39) C119* probably null Het
Dcbld1 T C 10: 52,195,587 (GRCm39) L265P probably damaging Het
Desi1 T A 15: 81,887,976 (GRCm39) K31N probably damaging Het
Dpy19l2 C A 9: 24,607,285 (GRCm39) G59C probably damaging Het
Epdr1 A T 13: 19,778,815 (GRCm39) Y94N probably damaging Het
Fat1 T C 8: 45,404,905 (GRCm39) V552A probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Frem2 A T 3: 53,444,752 (GRCm39) Y2460N probably damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Gpalpp1 A C 14: 76,336,063 (GRCm39) probably null Het
Grid2ip A G 5: 143,373,933 (GRCm39) I858V probably damaging Het
Grin2b ATTGTTGT ATTGT 6: 135,709,453 (GRCm39) probably benign Het
Hps4 A G 5: 112,512,429 (GRCm39) T182A probably damaging Het
Impa1 A T 3: 10,394,075 (GRCm39) probably null Het
Kcnh3 T C 15: 99,131,862 (GRCm39) S606P probably damaging Het
Kif23 T A 9: 61,839,193 (GRCm39) R301* probably null Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lcp2 G T 11: 34,040,670 (GRCm39) A529S probably benign Het
Lhx8 G A 3: 154,035,925 (GRCm39) A22V probably benign Het
Lin28a A T 4: 133,735,235 (GRCm39) S134T possibly damaging Het
Med27 T A 2: 29,236,882 (GRCm39) V9E possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Mtcl1 T G 17: 66,650,829 (GRCm39) E1545D probably benign Het
Muc16 A G 9: 18,409,126 (GRCm39) Y187H probably damaging Het
Myo3a G T 2: 22,404,679 (GRCm39) K678N possibly damaging Het
Nsmce1 T C 7: 125,085,645 (GRCm39) M15V probably benign Het
Nxpe3 A T 16: 55,670,078 (GRCm39) N342K probably damaging Het
Or7g25 A G 9: 19,160,495 (GRCm39) S67P probably damaging Het
Or8g2 T A 9: 39,821,756 (GRCm39) I219N probably damaging Het
Pcdhb9 A G 18: 37,534,663 (GRCm39) N219S probably benign Het
Pck2 T A 14: 55,781,449 (GRCm39) V190E probably damaging Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Phf1 T C 17: 27,153,429 (GRCm39) V54A probably damaging Het
Pla2r1 T C 2: 60,353,127 (GRCm39) E278G probably damaging Het
Ptges3 G T 10: 127,908,016 (GRCm39) R122L probably benign Het
Rnpepl1 C T 1: 92,844,881 (GRCm39) T391I probably damaging Het
Rps6kb1 G A 11: 86,397,633 (GRCm39) A404V probably benign Het
Rrm2b T C 15: 37,945,391 (GRCm39) probably null Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc9b2 G T 3: 135,042,290 (GRCm39) R523L probably benign Het
Slco1c1 T A 6: 141,477,174 (GRCm39) probably null Het
Stox2 T C 8: 47,645,865 (GRCm39) T532A probably damaging Het
Tbcel A G 9: 42,327,248 (GRCm39) L385P probably damaging Het
Tle5 A G 10: 81,401,474 (GRCm39) N181D probably benign Het
Tmem268 G A 4: 63,496,149 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top3a G A 11: 60,650,182 (GRCm39) T122M probably damaging Het
Trav7n-4 G A 14: 53,329,088 (GRCm39) V33I probably benign Het
Ttn T G 2: 76,539,551 (GRCm39) E26151D possibly damaging Het
Ttn C T 2: 76,687,228 (GRCm39) probably benign Het
Tyk2 A G 9: 21,035,328 (GRCm39) C195R possibly damaging Het
Ugt2b38 T C 5: 87,558,078 (GRCm39) K528E probably damaging Het
Usp28 T A 9: 48,937,125 (GRCm39) D483E probably benign Het
Vldlr A G 19: 27,220,554 (GRCm39) D598G probably damaging Het
Vmn1r51 T G 6: 90,106,498 (GRCm39) I138S probably damaging Het
Vps13b G A 15: 35,869,541 (GRCm39) A2682T probably damaging Het
Wac T A 18: 7,917,568 (GRCm39) V346E probably damaging Het
Zdbf2 T C 1: 63,347,579 (GRCm39) V1986A possibly 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
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
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'- GTGATGATTCTGGAGCTGACC -3'
(R):5'- TACCGACAGCTAGCAGTGTG -3'

Sequencing Primer
(F):5'- CTGAAAGGTGTGAGGCTCAAC -3'
(R):5'- CAGTGTGTCCTGTCAGAATGAAC -3'
Posted On 2015-02-18