Incidental Mutation 'R7418:Eif2b1'
ID 575448
Institutional Source Beutler Lab
Gene Symbol Eif2b1
Ensembl Gene ENSMUSG00000029388
Gene Name eukaryotic translation initiation factor 2B, subunit alpha
Synonyms 26kDa, EIF2BA, EIF2B, D5Ertd406e
MMRRC Submission 045496-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R7418 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124708277-124717194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124714893 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99LC8
Predicted Effect probably benign
Transcript: ENSMUST00000031333
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 90,859,697 (GRCm39) H827P probably benign Het
Atp8b3 A T 10: 80,365,926 (GRCm39) L308Q probably damaging Het
Ccdc180 T C 4: 45,904,616 (GRCm39) L404P probably damaging Het
Cdh13 G A 8: 120,039,264 (GRCm39) G569R probably damaging Het
Clec14a G A 12: 58,315,433 (GRCm39) T63I probably damaging Het
Cngb1 G T 8: 96,004,887 (GRCm39) S487* probably null Het
Cog5 A T 12: 31,883,240 (GRCm39) N390Y probably damaging Het
Col6a4 C T 9: 105,900,114 (GRCm39) G1670S probably damaging Het
Daxx T A 17: 34,129,579 (GRCm39) D53E probably benign Het
Dnah14 C T 1: 181,444,307 (GRCm39) T539I possibly damaging Het
Dnajc2 A G 5: 21,965,622 (GRCm39) probably null Het
Ehmt1 C T 2: 24,774,646 (GRCm39) G53R probably benign Het
Eya3 A G 4: 132,408,159 (GRCm39) T152A possibly damaging Het
Fam234b G A 6: 135,194,009 (GRCm39) V221M probably benign Het
Fbxl13 T A 5: 21,786,981 (GRCm39) T319S probably benign Het
Fchsd2 G T 7: 100,920,831 (GRCm39) V479F possibly damaging Het
Fgd5 T C 6: 92,001,519 (GRCm39) S905P probably benign Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Fxn C T 19: 24,257,860 (GRCm39) V24I probably benign Het
Gapvd1 C T 2: 34,615,130 (GRCm39) D456N probably benign Het
Gm128 C T 3: 95,147,878 (GRCm39) V139M possibly damaging Het
Gm973 A G 1: 59,565,972 (GRCm39) T64A probably damaging Het
Gtf2h5 T A 17: 6,134,903 (GRCm39) N64K probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Haus6 A G 4: 86,513,010 (GRCm39) S386P possibly damaging Het
Hsh2d A G 8: 72,950,638 (GRCm39) probably null Het
Htt T C 5: 34,947,697 (GRCm39) M125T possibly damaging Het
Inpp5d T A 1: 87,635,933 (GRCm39) probably null Het
Ints4 G A 7: 97,140,179 (GRCm39) A137T probably benign Het
Isl2 A G 9: 55,451,636 (GRCm39) D263G probably benign Het
Itgb5 T G 16: 33,705,464 (GRCm39) D251E probably damaging Het
Jpt1 A T 11: 115,389,095 (GRCm39) L116Q probably damaging Het
Kansl2 A G 15: 98,429,775 (GRCm39) S86P possibly damaging Het
Kat2b G T 17: 53,917,953 (GRCm39) R104I possibly damaging Het
Kcna10 C A 3: 107,102,362 (GRCm39) A331D probably benign Het
Kcnk3 G A 5: 30,779,675 (GRCm39) V242M possibly damaging Het
Kdm4a A G 4: 118,017,440 (GRCm39) L542P probably damaging Het
Kif20b T C 19: 34,907,087 (GRCm39) F119L probably damaging Het
Krtcap3 A T 5: 31,409,881 (GRCm39) H149L probably benign Het
Lhx4 A G 1: 155,586,005 (GRCm39) V102A probably damaging Het
Luc7l T A 17: 26,472,156 (GRCm39) probably benign Het
Myh15 G T 16: 48,975,900 (GRCm39) A1323S possibly damaging Het
Myl1 T A 1: 66,965,338 (GRCm39) R151S unknown Het
Naif1 A G 2: 32,342,583 (GRCm39) S45G probably benign Het
Ndst4 C T 3: 125,501,800 (GRCm39) T121I probably damaging Het
Neurod6 C T 6: 55,656,283 (GRCm39) R118Q probably damaging Het
Npl A T 1: 153,413,257 (GRCm39) probably null Het
Nr4a3 T C 4: 48,051,476 (GRCm39) Y77H probably damaging Het
Or4a81 A T 2: 89,619,320 (GRCm39) C125* probably null Het
Or4b1 T G 2: 89,979,831 (GRCm39) D173A probably damaging Het
Pex11a G A 7: 79,392,735 (GRCm39) probably benign Het
Rab44 T A 17: 29,359,470 (GRCm39) F553I unknown Het
Sbf2 C T 7: 109,965,028 (GRCm39) R1002H probably damaging Het
Sectm1a C A 11: 120,960,119 (GRCm39) probably null Het
Slit3 G A 11: 35,577,255 (GRCm39) V1163M possibly damaging Het
Sphk2 G A 7: 45,361,180 (GRCm39) R275C probably damaging Het
Tango6 A G 8: 107,415,466 (GRCm39) S96G probably benign Het
Tg A G 15: 66,568,432 (GRCm39) E1373G probably damaging Het
Traf3ip1 T A 1: 91,435,458 (GRCm39) probably null Het
Trp53 T C 11: 69,479,214 (GRCm39) F131L probably damaging Het
Ttc21a A T 9: 119,788,117 (GRCm39) E847D probably benign Het
Ttn A G 2: 76,602,791 (GRCm39) F18477S probably damaging Het
Usp25 A T 16: 76,910,730 (GRCm39) R929* probably null Het
Usp49 G T 17: 47,983,093 (GRCm39) E33* probably null Het
Vmn1r63 A G 7: 5,806,554 (GRCm39) V26A possibly damaging Het
Vmn1r74 A T 7: 11,581,081 (GRCm39) Y127F possibly damaging Het
Wdfy3 C T 5: 102,105,366 (GRCm39) V154I probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zkscan4 A G 13: 21,668,799 (GRCm39) K446E probably damaging Het
Other mutations in Eif2b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Eif2b1 APN 5 124,714,932 (GRCm39) missense probably damaging 1.00
IGL01541:Eif2b1 APN 5 124,714,965 (GRCm39) missense probably damaging 1.00
IGL01757:Eif2b1 APN 5 124,711,203 (GRCm39) missense probably benign 0.14
IGL03034:Eif2b1 APN 5 124,709,894 (GRCm39) missense probably benign 0.01
R0066:Eif2b1 UTSW 5 124,711,858 (GRCm39) splice site probably null
R0094:Eif2b1 UTSW 5 124,709,829 (GRCm39) missense probably benign 0.05
R2655:Eif2b1 UTSW 5 124,714,917 (GRCm39) missense probably damaging 0.99
R4842:Eif2b1 UTSW 5 124,714,971 (GRCm39) missense probably damaging 0.98
R5347:Eif2b1 UTSW 5 124,716,862 (GRCm39) intron probably benign
R5620:Eif2b1 UTSW 5 124,717,075 (GRCm39) start codon destroyed probably null 1.00
R5801:Eif2b1 UTSW 5 124,712,775 (GRCm39) critical splice acceptor site probably null
R6481:Eif2b1 UTSW 5 124,715,174 (GRCm39) missense probably benign 0.34
R6659:Eif2b1 UTSW 5 124,717,171 (GRCm39) unclassified probably benign
R6850:Eif2b1 UTSW 5 124,717,069 (GRCm39) missense probably benign 0.15
R7075:Eif2b1 UTSW 5 124,709,314 (GRCm39) missense probably damaging 1.00
R8125:Eif2b1 UTSW 5 124,717,162 (GRCm39) unclassified probably benign
R8144:Eif2b1 UTSW 5 124,711,208 (GRCm39) missense probably damaging 0.99
R9473:Eif2b1 UTSW 5 124,712,677 (GRCm39) nonsense probably null
R9526:Eif2b1 UTSW 5 124,711,867 (GRCm39) missense probably benign 0.03
X0066:Eif2b1 UTSW 5 124,717,120 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CACACTACAGAGCGTCTCAG -3'
(R):5'- AATACTCTGTAAGCCCCGCC -3'

Sequencing Primer
(F):5'- GGGAGCTGCCGTCCTTATTAAC -3'
(R):5'- GTAAGCCCCGCCCTCCC -3'
Posted On 2019-10-07