Incidental Mutation 'R0669:Eif2s1'
ID 62154
Institutional Source Beutler Lab
Gene Symbol Eif2s1
Ensembl Gene ENSMUSG00000021116
Gene Name eukaryotic translation initiation factor 2, subunit 1 alpha
Synonyms 0910001O23Rik, Eif2a, eIF2alpha, 2410026C18Rik
MMRRC Submission 038854-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0669 (G1)
Quality Score 101
Status Validated
Chromosome 12
Chromosomal Location 78908846-78933784 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 78928012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000071214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071230]
AlphaFold Q6ZWX6
Predicted Effect probably benign
Transcript: ENSMUST00000071230
SMART Domains Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116

DomainStartEndE-ValueType
S1 15 88 1.72e-12 SMART
Pfam:EIF_2_alpha 130 244 1e-40 PFAM
coiled coil region 284 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220382
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knocked-in point mutation die within hours of birth and exhibit hypoglycemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,089,671 (GRCm39) H71L possibly damaging Het
Abcb11 C A 2: 69,159,662 (GRCm39) V10L probably benign Het
Abcb9 T C 5: 124,200,950 (GRCm39) T689A probably damaging Het
Adam22 A G 5: 8,193,036 (GRCm39) probably benign Het
Adamts5 A G 16: 85,696,614 (GRCm39) I181T probably benign Het
Adamts9 A T 6: 92,857,938 (GRCm39) V231D probably damaging Het
Angptl6 C T 9: 20,787,823 (GRCm39) V197M probably damaging Het
Atp6v1c1 T C 15: 38,677,772 (GRCm39) V99A probably benign Het
Cacna2d3 A G 14: 29,189,906 (GRCm39) V110A probably benign Het
Ccdc32 A G 2: 118,849,648 (GRCm39) probably benign Het
Cela3b T C 4: 137,155,841 (GRCm39) H22R probably benign Het
Cep44 T C 8: 56,994,008 (GRCm39) T190A possibly damaging Het
Chsy1 T C 7: 65,821,435 (GRCm39) C557R probably damaging Het
Cntd1 A G 11: 101,178,324 (GRCm39) T308A probably damaging Het
Cutal T C 2: 34,775,878 (GRCm39) probably benign Het
Dipk1b A G 2: 26,524,878 (GRCm39) T93A probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Dnhd1 T A 7: 105,342,911 (GRCm39) S1418R probably benign Het
Dnpep A G 1: 75,288,422 (GRCm39) probably benign Het
Dock7 A T 4: 98,875,716 (GRCm39) Y1075N probably benign Het
Ess2 T C 16: 17,725,419 (GRCm39) Y221C probably damaging Het
Fer1l6 T C 15: 58,425,573 (GRCm39) probably null Het
Gm5592 T C 7: 40,805,254 (GRCm39) probably benign Het
Ipp A G 4: 116,395,073 (GRCm39) Y536C probably damaging Het
Krt72 T C 15: 101,686,740 (GRCm39) E402G probably damaging Het
Lamb3 T C 1: 193,014,638 (GRCm39) L599P probably damaging Het
Lingo2 T A 4: 35,709,120 (GRCm39) T287S probably benign Het
Lipo3 T A 19: 33,537,025 (GRCm39) T232S probably benign Het
Lrrc63 G A 14: 75,363,550 (GRCm39) H194Y probably benign Het
Map3k13 A G 16: 21,725,274 (GRCm39) T416A probably benign Het
Mcm3 A T 1: 20,875,153 (GRCm39) probably null Het
Mms22l T C 4: 24,517,223 (GRCm39) V258A probably benign Het
Mrpl46 A T 7: 78,432,631 (GRCm39) L49* probably null Het
Mrs2 T C 13: 25,177,742 (GRCm39) T369A possibly damaging Het
Mtrf1 T A 14: 79,656,708 (GRCm39) Y403* probably null Het
Muc20 G A 16: 32,614,850 (GRCm39) P176S unknown Het
Mup21 C T 4: 62,068,964 (GRCm39) C9Y unknown Het
Mup-ps21 A T 4: 61,949,007 (GRCm39) noncoding transcript Het
Mybph T G 1: 134,125,081 (GRCm39) probably null Het
Mypn A G 10: 62,970,702 (GRCm39) probably benign Het
Nav2 T C 7: 49,058,431 (GRCm39) S124P probably damaging Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Numa1 A C 7: 101,648,884 (GRCm39) I872L probably benign Het
Or14c40 A G 7: 86,313,544 (GRCm39) I225V possibly damaging Het
Or2a7 C T 6: 43,150,938 (GRCm39) T6I probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4c11 A T 2: 88,695,272 (GRCm39) M108L probably benign Het
Or5p52 T A 7: 107,502,446 (GRCm39) I174K probably damaging Het
Pcdhb9 A T 18: 37,535,308 (GRCm39) N434I probably damaging Het
Pigq A T 17: 26,155,736 (GRCm39) probably null Het
Plxna2 T G 1: 194,471,145 (GRCm39) V972G probably damaging Het
Psma3 G A 12: 71,035,269 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,703,975 (GRCm39) T1336A probably benign Het
Rdh7 T C 10: 127,720,598 (GRCm39) D258G probably benign Het
Serpinb6c A G 13: 34,083,252 (GRCm39) I54T probably damaging Het
Sh2d7 A T 9: 54,448,633 (GRCm39) Y218F probably benign Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Slc12a8 A T 16: 33,371,274 (GRCm39) I137F possibly damaging Het
Smarca2 T C 19: 26,683,600 (GRCm39) V1153A possibly damaging Het
Smc6 A T 12: 11,339,165 (GRCm39) I334L probably benign Het
Sorcs1 A G 19: 50,230,380 (GRCm39) probably benign Het
Taar8c A G 10: 23,977,401 (GRCm39) L137P probably damaging Het
Tcam1 A T 11: 106,176,252 (GRCm39) D326V possibly damaging Het
Telo2 A T 17: 25,324,797 (GRCm39) V461D probably benign Het
Tmprss7 A T 16: 45,498,325 (GRCm39) C351* probably null Het
Trim66 T A 7: 109,054,199 (GRCm39) probably benign Het
Ube2d1 G T 10: 71,097,940 (GRCm39) H32N probably benign Het
Ubp1 T C 9: 113,793,736 (GRCm39) probably benign Het
Vma21 C T X: 70,863,763 (GRCm39) T81M probably damaging Het
Vmn1r113 T C 7: 20,521,345 (GRCm39) S46P probably benign Het
Wars1 T C 12: 108,831,944 (GRCm39) S374G probably benign Het
Wbp1 T C 6: 83,096,326 (GRCm39) D277G possibly damaging Het
Zfp939 C A 7: 39,123,209 (GRCm39) noncoding transcript Het
Other mutations in Eif2s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Eif2s1 APN 12 78,913,420 (GRCm39) missense possibly damaging 0.92
IGL00736:Eif2s1 APN 12 78,931,611 (GRCm39) unclassified probably benign
IGL02072:Eif2s1 APN 12 78,926,788 (GRCm39) missense probably benign 0.04
IGL02312:Eif2s1 APN 12 78,926,790 (GRCm39) missense probably damaging 1.00
IGL03379:Eif2s1 APN 12 78,913,354 (GRCm39) missense probably benign 0.00
Sistine UTSW 12 78,930,126 (GRCm39) missense possibly damaging 0.71
R1426:Eif2s1 UTSW 12 78,927,942 (GRCm39) missense probably benign 0.01
R1644:Eif2s1 UTSW 12 78,913,295 (GRCm39) splice site probably null
R1998:Eif2s1 UTSW 12 78,913,508 (GRCm39) missense possibly damaging 0.90
R2069:Eif2s1 UTSW 12 78,923,959 (GRCm39) missense probably benign 0.03
R3885:Eif2s1 UTSW 12 78,927,999 (GRCm39) missense probably damaging 1.00
R4704:Eif2s1 UTSW 12 78,923,944 (GRCm39) missense probably benign 0.31
R4964:Eif2s1 UTSW 12 78,926,785 (GRCm39) missense probably benign
R5908:Eif2s1 UTSW 12 78,926,817 (GRCm39) missense probably damaging 0.99
R6473:Eif2s1 UTSW 12 78,927,999 (GRCm39) missense probably damaging 1.00
R6601:Eif2s1 UTSW 12 78,930,126 (GRCm39) missense possibly damaging 0.71
R7043:Eif2s1 UTSW 12 78,923,882 (GRCm39) missense probably damaging 0.99
R7358:Eif2s1 UTSW 12 78,927,969 (GRCm39) missense probably damaging 1.00
R8516:Eif2s1 UTSW 12 78,927,936 (GRCm39) missense probably damaging 1.00
R8875:Eif2s1 UTSW 12 78,913,461 (GRCm39) missense probably damaging 1.00
R9236:Eif2s1 UTSW 12 78,921,343 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCATATTCTTAGCATTTGGGAAGCCCT -3'
(R):5'- ACTGAACATGCCAGGTATGCACTTT -3'

Sequencing Primer
(F):5'- gctcagcaagtaaagccactc -3'
(R):5'- CAGGTATGCACTTTATCATGGAGC -3'
Posted On 2013-07-30