Incidental Mutation 'R7418:Eif2b1'
Institutional Source Beutler Lab
Gene Symbol Eif2b1
Ensembl Gene ENSMUSG00000029388
Gene Nameeukaryotic translation initiation factor 2B, subunit 1 (alpha)
SynonymsEIF2B, D5Ertd406e, 26kDa, EIF2BA
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock #R7418 (G1)
Quality Score225.009
Status Validated
Chromosomal Location124570213-124579131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 124576830 bp
Amino Acid Change Asparagine to Tyrosine at position 113 (N113Y)
Ref Sequence ENSEMBL: ENSMUSP00000031334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333] [ENSMUST00000031334] [ENSMUST00000128920] [ENSMUST00000135163] [ENSMUST00000135361] [ENSMUST00000198318]
Predicted Effect probably benign
Transcript: ENSMUST00000031333
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387

Pfam:Tfb4 8 287 2.1e-108 PFAM
low complexity region 299 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000031334
AA Change: N113Y

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: N113Y

Pfam:IF-2B 14 293 2.3e-81 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128920
AA Change: N128Y

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388
AA Change: N128Y

Pfam:IF-2B 28 133 1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135163
Predicted Effect possibly damaging
Transcript: ENSMUST00000135361
AA Change: N113Y

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388
AA Change: N113Y

Pfam:IF-2B 13 172 2.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198318
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
MGI Phenotype FUNCTION: This gene encodes the alpha subunit of the eukaryotic translation initiation factor complex 2B (eIF2B). The eIF2B complex is a heterodecamer comprised of two molecules each of alpha, beta, gamma, delta and epsilon subunits. The eIF2B complex is a critical regulator of protein synthesis acting as the guanine nucleotide exchange factor for eIF2 to enable the formation of ternary complex that is required for the initiation of mRNA translation. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apaf1 T G 10: 91,023,835 H827P probably benign Het
Atp8b3 A T 10: 80,530,092 L308Q probably damaging Het
Ccdc180 T C 4: 45,904,616 L404P probably damaging Het
Cdh13 G A 8: 119,312,525 G569R probably damaging Het
Clec14a G A 12: 58,268,647 T63I probably damaging Het
Cngb1 G T 8: 95,278,259 S487* probably null Het
Cog5 A T 12: 31,833,241 N390Y probably damaging Het
Col6a4 C T 9: 106,022,915 G1670S probably damaging Het
Daxx T A 17: 33,910,605 D53E probably benign Het
Dnah14 C T 1: 181,616,742 T539I possibly damaging Het
Dnajc2 A G 5: 21,760,624 probably null Het
Ehmt1 C T 2: 24,884,634 G53R probably benign Het
Eya3 A G 4: 132,680,848 T152A possibly damaging Het
Fam234b G A 6: 135,217,011 V221M probably benign Het
Fbxl13 T A 5: 21,581,983 T319S probably benign Het
Fchsd2 G T 7: 101,271,624 V479F possibly damaging Het
Fgd5 T C 6: 92,024,538 S905P probably benign Het
Fthl17b C T X: 8,962,804 R9Q possibly damaging Het
Fthl17b C T X: 8,962,808 V8M possibly damaging Het
Fxn C T 19: 24,280,496 V24I probably benign Het
Gapvd1 C T 2: 34,725,118 D456N probably benign Het
Gm128 C T 3: 95,240,567 V139M possibly damaging Het
Gm973 A G 1: 59,526,813 T64A probably damaging Het
Gtf2h5 T A 17: 6,084,628 N64K probably damaging Het
H2bfm G A X: 136,927,722 R120K unknown Het
Haus6 A G 4: 86,594,773 S386P possibly damaging Het
Hsh2d A G 8: 72,196,794 probably null Het
Htt T C 5: 34,790,353 M125T possibly damaging Het
Inpp5d T A 1: 87,708,211 probably null Het
Ints4 G A 7: 97,490,972 A137T probably benign Het
Isl2 A G 9: 55,544,352 D263G probably benign Het
Itgb5 T G 16: 33,885,094 D251E probably damaging Het
Jpt1 A T 11: 115,498,269 L116Q probably damaging Het
Kansl2 A G 15: 98,531,894 S86P possibly damaging Het
Kat2b G T 17: 53,610,925 R104I possibly damaging Het
Kcna10 C A 3: 107,195,046 A331D probably benign Het
Kcnk3 G A 5: 30,622,331 V242M possibly damaging Het
Kdm4a A G 4: 118,160,243 L542P probably damaging Het
Kif20b T C 19: 34,929,687 F119L probably damaging Het
Krtcap3 A T 5: 31,252,537 H149L probably benign Het
Lhx4 A G 1: 155,710,259 V102A probably damaging Het
Luc7l T A 17: 26,253,182 probably benign Het
Myh15 G T 16: 49,155,537 A1323S possibly damaging Het
Myl1 T A 1: 66,926,179 R151S unknown Het
Naif1 A G 2: 32,452,571 S45G probably benign Het
Ndst4 C T 3: 125,708,151 T121I probably damaging Het
Neurod6 C T 6: 55,679,298 R118Q probably damaging Het
Npl A T 1: 153,537,511 probably null Het
Nr4a3 T C 4: 48,051,476 Y77H probably damaging Het
Olfr1254 A T 2: 89,788,976 C125* probably null Het
Olfr1270 T G 2: 90,149,487 D173A probably damaging Het
Pex11a G A 7: 79,742,987 probably benign Het
Rab44 T A 17: 29,140,496 F553I unknown Het
Sbf2 C T 7: 110,365,821 R1002H probably damaging Het
Sectm1a C A 11: 121,069,293 probably null Het
Slit3 G A 11: 35,686,428 V1163M possibly damaging Het
Sphk2 G A 7: 45,711,756 R275C probably damaging Het
Tango6 A G 8: 106,688,834 S96G probably benign Het
Tg A G 15: 66,696,583 E1373G probably damaging Het
Traf3ip1 T A 1: 91,507,736 probably null Het
Trp53 T C 11: 69,588,388 F131L probably damaging Het
Ttc21a A T 9: 119,959,051 E847D probably benign Het
Ttn A G 2: 76,772,447 F18477S probably damaging Het
Usp25 A T 16: 77,113,842 R929* probably null Het
Usp49 G T 17: 47,672,168 E33* probably null Het
Vmn1r63 A G 7: 5,803,555 V26A possibly damaging Het
Vmn1r74 A T 7: 11,847,154 Y127F possibly damaging Het
Wdfy3 C T 5: 101,957,500 V154I probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zkscan4 A G 13: 21,484,629 K446E probably damaging Het
Other mutations in Eif2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Eif2b1 APN 5 124576869 missense probably damaging 1.00
IGL01541:Eif2b1 APN 5 124576902 missense probably damaging 1.00
IGL01757:Eif2b1 APN 5 124573140 missense probably benign 0.14
IGL03034:Eif2b1 APN 5 124571831 missense probably benign 0.01
R0066:Eif2b1 UTSW 5 124573795 unclassified probably null
R0094:Eif2b1 UTSW 5 124571766 missense probably benign 0.05
R2655:Eif2b1 UTSW 5 124576854 missense probably damaging 0.99
R4842:Eif2b1 UTSW 5 124576908 missense probably damaging 0.98
R5347:Eif2b1 UTSW 5 124578799 intron probably benign
R5620:Eif2b1 UTSW 5 124579012 start codon destroyed probably null 1.00
R5801:Eif2b1 UTSW 5 124574712 critical splice acceptor site probably null
R6481:Eif2b1 UTSW 5 124577111 missense probably benign 0.34
R6659:Eif2b1 UTSW 5 124579108 unclassified probably benign
R6850:Eif2b1 UTSW 5 124579006 missense probably benign 0.15
R7075:Eif2b1 UTSW 5 124571251 missense probably damaging 1.00
X0066:Eif2b1 UTSW 5 124579057 start gained probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2019-10-07