Incidental Mutation 'R1061:Eif2a'
ID 94443
Institutional Source Beutler Lab
Gene Symbol Eif2a
Ensembl Gene ENSMUSG00000027810
Gene Name eukaryotic translation initiation factor 2A
Synonyms D3Ertd194e
MMRRC Submission 039147-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1061 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 58433252-58464922 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 58452486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 165 (Y165*)
Ref Sequence ENSEMBL: ENSMUSP00000120901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029387] [ENSMUST00000135876] [ENSMUST00000138848] [ENSMUST00000154219]
AlphaFold Q8BJW6
Predicted Effect probably null
Transcript: ENSMUST00000029387
AA Change: Y182*
SMART Domains Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: Y182*

DomainStartEndE-ValueType
low complexity region 145 159 N/A INTRINSIC
Pfam:eIF2A 216 411 1e-77 PFAM
low complexity region 488 502 N/A INTRINSIC
coiled coil region 528 575 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135876
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138827
Predicted Effect probably null
Transcript: ENSMUST00000138848
AA Change: Y165*
SMART Domains Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: Y165*

DomainStartEndE-ValueType
SCOP:d1kb0a2 27 160 5e-9 SMART
Pfam:eIF2A 199 251 1.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148251
Predicted Effect probably benign
Transcript: ENSMUST00000154219
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no visible phenotypes. [provided by MGI curators]
Allele List at MGI

All alleles(51) : Targeted, other(2) Gene trapped(49)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,108,153 (GRCm39) A715T probably benign Het
Ampd2 A G 3: 107,983,005 (GRCm39) Y641H probably damaging Het
Aqp4 A T 18: 15,531,248 (GRCm39) V171E probably damaging Het
Arid4a T A 12: 71,121,729 (GRCm39) S381R probably damaging Het
Armc8 T G 9: 99,419,784 (GRCm39) N51H probably damaging Het
Asic5 T A 3: 81,928,308 (GRCm39) Y424N probably damaging Het
Bcl11a A T 11: 24,114,069 (GRCm39) K471* probably null Het
Birc6 A G 17: 74,996,307 (GRCm39) T4494A probably damaging Het
Btbd9 A G 17: 30,746,409 (GRCm39) I139T probably benign Het
Ccdc60 C A 5: 116,310,527 (GRCm39) R178S possibly damaging Het
Cd163 C T 6: 124,286,128 (GRCm39) A226V probably benign Het
Cibar2 C A 8: 120,896,443 (GRCm39) probably null Het
Cog1 T G 11: 113,542,863 (GRCm39) S170A probably benign Het
Cwc15 T C 9: 14,419,211 (GRCm39) L169P probably damaging Het
Cyp3a25 A T 5: 145,923,643 (GRCm39) D333E probably benign Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Dlc1 T A 8: 37,325,205 (GRCm39) T367S probably benign Het
Dnah17 T C 11: 117,943,514 (GRCm39) D3183G possibly damaging Het
Eml6 T C 11: 29,727,267 (GRCm39) D1285G probably damaging Het
Fasn T C 11: 120,713,008 (GRCm39) probably null Het
Fbn1 T C 2: 125,187,883 (GRCm39) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 190,740,370 (GRCm39) V550E probably benign Het
Gcm2 A G 13: 41,259,347 (GRCm39) W41R probably damaging Het
Gli2 A T 1: 118,782,247 (GRCm39) M160K possibly damaging Het
Gpr61 C T 3: 108,057,623 (GRCm39) R346H probably damaging Het
Hoxa5 A T 6: 52,181,135 (GRCm39) S66T probably benign Het
Hsph1 A T 5: 149,541,883 (GRCm39) V781D possibly damaging Het
Kdm3b G A 18: 34,929,915 (GRCm39) V220M probably damaging Het
Klhl25 T A 7: 75,516,268 (GRCm39) Y391* probably null Het
Mc2r A T 18: 68,540,880 (GRCm39) Y138N probably damaging Het
Mtap C A 4: 89,074,821 (GRCm39) D106E probably benign Het
Nup43 G T 10: 7,543,435 (GRCm39) W37L probably damaging Het
Nxpe2 T A 9: 48,237,663 (GRCm39) E197D probably damaging Het
Odad1 T C 7: 45,591,179 (GRCm39) I218T probably damaging Het
Or10d1c C A 9: 38,893,779 (GRCm39) C187F probably damaging Het
Or55b4 T A 7: 102,133,321 (GRCm39) *335C probably null Het
Or5p60 T C 7: 107,723,663 (GRCm39) Y269C probably damaging Het
Or8h8 A T 2: 86,753,126 (GRCm39) V250D possibly damaging Het
Pitrm1 A G 13: 6,605,611 (GRCm39) H186R probably damaging Het
Pklr C T 3: 89,052,188 (GRCm39) R467C probably damaging Het
Plxna2 A G 1: 194,326,401 (GRCm39) N112D probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp3cb A C 14: 20,558,682 (GRCm39) probably null Het
R3hcc1l C T 19: 42,571,865 (GRCm39) R135* probably null Het
Ralyl A C 3: 14,180,761 (GRCm39) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
S100a1 T C 3: 90,418,619 (GRCm39) N65S probably damaging Het
Scn11a A T 9: 119,624,729 (GRCm39) M531K probably damaging Het
Slc5a5 T A 8: 71,342,865 (GRCm39) M232L probably benign Het
Tet3 A T 6: 83,350,305 (GRCm39) N1054K probably damaging Het
Tg A G 15: 66,570,408 (GRCm39) N1427D probably benign Het
Tns1 A C 1: 73,956,831 (GRCm39) V530G probably damaging Het
Trcg1 C A 9: 57,153,156 (GRCm39) Q600K possibly damaging Het
Tshz3 A G 7: 36,468,131 (GRCm39) E40G probably damaging Het
Usp34 T C 11: 23,334,420 (GRCm39) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,038,603 (GRCm39) T726I probably benign Het
Vmn2r97 A T 17: 19,148,440 (GRCm39) R112* probably null Het
Vwa2 G T 19: 56,897,426 (GRCm39) R577L probably benign Het
Vwa3b A C 1: 37,196,511 (GRCm39) Q46P probably damaging Het
Wdr25 T A 12: 108,958,725 (GRCm39) probably null Het
Wrap53 A G 11: 69,453,226 (GRCm39) L405P probably damaging Het
Zfp629 C A 7: 127,211,161 (GRCm39) W216L probably damaging Het
Other mutations in Eif2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Eif2a APN 3 58,456,024 (GRCm39) missense possibly damaging 0.89
IGL02823:Eif2a APN 3 58,456,092 (GRCm39) missense probably benign 0.01
IGL03086:Eif2a APN 3 58,448,538 (GRCm39) missense probably benign 0.00
IGL03165:Eif2a APN 3 58,456,049 (GRCm39) nonsense probably null
1mM(1):Eif2a UTSW 3 58,452,724 (GRCm39) missense possibly damaging 0.75
PIT4576001:Eif2a UTSW 3 58,452,974 (GRCm39) missense probably damaging 1.00
R0540:Eif2a UTSW 3 58,463,073 (GRCm39) critical splice donor site probably null
R0607:Eif2a UTSW 3 58,463,073 (GRCm39) critical splice donor site probably null
R1499:Eif2a UTSW 3 58,445,005 (GRCm39) nonsense probably null
R1922:Eif2a UTSW 3 58,455,951 (GRCm39) missense probably damaging 1.00
R3980:Eif2a UTSW 3 58,446,960 (GRCm39) missense probably benign 0.00
R4017:Eif2a UTSW 3 58,452,776 (GRCm39) missense probably damaging 1.00
R4080:Eif2a UTSW 3 58,447,050 (GRCm39) missense possibly damaging 0.52
R5528:Eif2a UTSW 3 58,455,933 (GRCm39) missense probably damaging 1.00
R6320:Eif2a UTSW 3 58,464,517 (GRCm39) splice site probably null
R7081:Eif2a UTSW 3 58,449,139 (GRCm39) critical splice donor site probably null
R7414:Eif2a UTSW 3 58,433,502 (GRCm39) nonsense probably null
R7447:Eif2a UTSW 3 58,452,963 (GRCm39) missense probably damaging 0.97
R7497:Eif2a UTSW 3 58,456,102 (GRCm39) missense probably damaging 1.00
R7701:Eif2a UTSW 3 58,459,991 (GRCm39) missense possibly damaging 0.72
R8205:Eif2a UTSW 3 58,456,156 (GRCm39) missense probably damaging 1.00
R8826:Eif2a UTSW 3 58,456,049 (GRCm39) nonsense probably null
R9103:Eif2a UTSW 3 58,452,461 (GRCm39) missense
R9165:Eif2a UTSW 3 58,452,695 (GRCm39) missense probably damaging 1.00
R9232:Eif2a UTSW 3 58,463,022 (GRCm39) missense probably benign
R9280:Eif2a UTSW 3 58,447,009 (GRCm39) intron probably benign
R9492:Eif2a UTSW 3 58,448,475 (GRCm39) missense probably benign 0.00
R9524:Eif2a UTSW 3 58,448,467 (GRCm39) missense possibly damaging 0.87
Z1176:Eif2a UTSW 3 58,456,305 (GRCm39) missense probably benign
Z1177:Eif2a UTSW 3 58,438,541 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTGAGGCTGATCTTTCCCATC -3'
(R):5'- TGAGGTCCGGCAAAGTTGGGATAC -3'

Sequencing Primer
(F):5'- gctctgcctcattacatgaaac -3'
(R):5'- AAGCACATAAACTGAGATGGATG -3'
Posted On 2014-01-05