Incidental Mutation 'IGL02072:Eif2s1'
ID 185861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2s1
Ensembl Gene ENSMUSG00000021116
Gene Name eukaryotic translation initiation factor 2, subunit 1 alpha
Synonyms eIF2alpha, 0910001O23Rik, 2410026C18Rik, Eif2a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02072
Quality Score
Status
Chromosome 12
Chromosomal Location 78861819-78887010 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78880014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 179 (N179K)
Ref Sequence ENSEMBL: ENSMUSP00000071214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071230]
AlphaFold Q6ZWX6
Predicted Effect probably benign
Transcript: ENSMUST00000071230
AA Change: N179K

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116
AA Change: N179K

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
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,161,820 probably benign Het
Atm A G 9: 53,459,796 S2251P probably benign Het
C1qtnf6 T A 15: 78,527,351 K42* probably null Het
Ddx20 A T 3: 105,680,627 V379E probably damaging Het
Dnah7a A T 1: 53,605,827 W1017R probably damaging Het
Exosc9 A T 3: 36,554,672 N140I probably damaging Het
Fam84b A G 15: 60,823,453 L148P probably damaging Het
Fancg A C 4: 43,007,062 H238Q probably benign Het
Fyttd1 A G 16: 32,900,661 I110V probably damaging Het
G6pd2 A T 5: 61,809,410 D176V probably damaging Het
Gm5114 A G 7: 39,411,402 S8P probably benign Het
Hoxa1 T A 6: 52,156,898 M283L probably damaging Het
Hspbp1 A T 7: 4,677,721 L252H probably damaging Het
Itgb2l A T 16: 96,430,608 D319E probably benign Het
Kdm6a A G X: 18,254,289 T737A probably benign Het
Kmt2c A T 5: 25,405,432 D225E possibly damaging Het
Lamb2 T A 9: 108,481,908 Y274* probably null Het
Mamdc4 A G 2: 25,568,339 L353P probably damaging Het
Mid2 T A X: 140,736,452 H258Q probably damaging Het
Msh3 A C 13: 92,300,295 N502K probably damaging Het
Nalcn T C 14: 123,323,358 H769R probably benign Het
Nfx1 A G 4: 41,016,119 I894V probably benign Het
Notch3 G A 17: 32,147,074 Q1018* probably null Het
Oas1e A G 5: 120,791,781 probably null Het
Olfr1316 A T 2: 112,130,081 H243Q probably damaging Het
Olfr854 A G 9: 19,566,949 I145T probably benign Het
Plekha4 T A 7: 45,538,298 F265I probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc9a3 T C 13: 74,165,859 I762T probably benign Het
Spag1 C A 15: 36,190,512 P158Q probably damaging Het
Spout1 G A 2: 30,177,926 Q26* probably null Het
Sulf1 T C 1: 12,848,208 Y50H probably damaging Het
Sytl5 C T X: 9,963,586 probably benign Het
Tcof1 T C 18: 60,831,565 E663G possibly damaging Het
Tmc3 A G 7: 83,615,940 I681V probably benign Het
Tnfsf4 G T 1: 161,417,289 C183F probably damaging Het
Ubqln3 A T 7: 104,141,299 L528Q possibly damaging Het
Upf3a A C 8: 13,798,368 Q388P probably damaging Het
Vrk1 T C 12: 106,042,885 V70A probably benign Het
Other mutations in Eif2s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Eif2s1 APN 12 78866646 missense possibly damaging 0.92
IGL00736:Eif2s1 APN 12 78884837 unclassified probably benign
IGL02312:Eif2s1 APN 12 78880016 missense probably damaging 1.00
IGL03379:Eif2s1 APN 12 78866580 missense probably benign 0.00
Sistine UTSW 12 78883352 missense possibly damaging 0.71
R0669:Eif2s1 UTSW 12 78881238 splice site probably benign
R1426:Eif2s1 UTSW 12 78881168 missense probably benign 0.01
R1644:Eif2s1 UTSW 12 78866521 splice site probably null
R1998:Eif2s1 UTSW 12 78866734 missense possibly damaging 0.90
R2069:Eif2s1 UTSW 12 78877185 missense probably benign 0.03
R3885:Eif2s1 UTSW 12 78881225 missense probably damaging 1.00
R4704:Eif2s1 UTSW 12 78877170 missense probably benign 0.31
R4964:Eif2s1 UTSW 12 78880011 missense probably benign
R5908:Eif2s1 UTSW 12 78880043 missense probably damaging 0.99
R6473:Eif2s1 UTSW 12 78881225 missense probably damaging 1.00
R6601:Eif2s1 UTSW 12 78883352 missense possibly damaging 0.71
R7043:Eif2s1 UTSW 12 78877108 missense probably damaging 0.99
R7358:Eif2s1 UTSW 12 78881195 missense probably damaging 1.00
R8516:Eif2s1 UTSW 12 78881162 missense probably damaging 1.00
R8875:Eif2s1 UTSW 12 78866687 missense probably damaging 1.00
R9236:Eif2s1 UTSW 12 78874569 missense probably benign 0.07
Posted On 2014-05-07