Incidental Mutation 'R0066:Eif2b1'
ID 17104
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 038357-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R0066 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 124708277-124717194 bp(-) (GRCm39)
Type of Mutation splice site (4135 bp from exon)
DNA Base Change (assembly) T to G at 124711858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031334] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000128920] [ENSMUST00000135163] [ENSMUST00000135361] [ENSMUST00000198318]
AlphaFold Q99LC8
Predicted Effect probably benign
Transcript: ENSMUST00000031334
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 14 293 2.3e-81 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000071057
SMART Domains Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389

DomainStartEndE-ValueType
DEXDc 28 245 3.15e-51 SMART
HELICc 281 363 3.69e-25 SMART
DUF4217 402 465 1.44e-26 SMART
low complexity region 491 506 N/A INTRINSIC
low complexity region 517 540 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111438
SMART Domains Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389

DomainStartEndE-ValueType
DEXDc 28 245 3.15e-51 SMART
HELICc 281 363 3.69e-25 SMART
DUF4217 398 461 1.44e-26 SMART
low complexity region 487 502 N/A INTRINSIC
low complexity region 513 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128920
SMART Domains Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 28 133 1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135163
Predicted Effect probably benign
Transcript: ENSMUST00000135361
AA Change: I165L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388
AA Change: I165L

DomainStartEndE-ValueType
Pfam:IF-2B 13 172 2.4e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152716
Predicted Effect probably benign
Transcript: ENSMUST00000198318
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 89.0%
  • 3x: 85.6%
  • 10x: 75.4%
  • 20x: 57.8%
Validation Efficiency 94% (112/119)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bptf A G 11: 106,952,962 (GRCm39) V199A possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fchsd2 A G 7: 100,927,631 (GRCm39) Y691C possibly damaging Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm19618 A T 6: 87,691,227 (GRCm39) Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Ighv1-4 A G 12: 114,450,989 (GRCm39) S40P possibly damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Mrps21 T C 3: 95,770,197 (GRCm39) Y44C probably null Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Reck A G 4: 43,930,936 (GRCm39) N646D probably damaging Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Ubqlnl A T 7: 103,798,145 (GRCm39) W451R probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Utp4 A G 8: 107,649,530 (GRCm39) T660A possibly damaging Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign 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
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
R7418:Eif2b1 UTSW 5 124,714,893 (GRCm39) missense probably benign 0.11
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
Posted On 2013-01-20