Incidental Mutation 'R1922:Eif2a'
ID 213125
Institutional Source Beutler Lab
Gene Symbol Eif2a
Ensembl Gene ENSMUSG00000027810
Gene Name eukaryotic translation initiation factor 2A
Synonyms D3Ertd194e
MMRRC Submission 039940-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1922 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 58433252-58464922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58455951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 317 (R317C)
Ref Sequence ENSEMBL: ENSMUSP00000029387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029387] [ENSMUST00000135876] [ENSMUST00000138848] [ENSMUST00000154219]
AlphaFold Q8BJW6
Predicted Effect probably damaging
Transcript: ENSMUST00000029387
AA Change: R317C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: R317C

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 benign
Transcript: ENSMUST00000138848
SMART Domains Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810

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: 97.5%
  • 3x: 97.1%
  • 10x: 95.8%
  • 20x: 93.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,359,083 (GRCm39) N574K probably benign Het
Adcy9 A T 16: 4,129,521 (GRCm39) L455H probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Amy1 T A 3: 113,358,544 (GRCm39) I163F probably damaging Het
Aoc1l2 A C 6: 48,908,220 (GRCm39) I407L probably benign Het
Armc5 A G 7: 127,839,677 (GRCm39) S332G probably benign Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Chrna1 A G 2: 73,398,576 (GRCm39) S288P probably damaging Het
Cpe T A 8: 65,070,723 (GRCm39) D174V probably benign Het
Dclre1c T C 2: 3,441,819 (GRCm39) F235L possibly damaging Het
Ddx20 A T 3: 105,585,900 (GRCm39) V815D probably damaging Het
Dhx9 T C 1: 153,336,020 (GRCm39) probably null Het
Dmxl2 A C 9: 54,308,807 (GRCm39) H1981Q probably benign Het
Doc2a A C 7: 126,450,603 (GRCm39) D293A probably damaging Het
Fancc A G 13: 63,478,381 (GRCm39) V318A possibly damaging Het
Fes A T 7: 80,033,734 (GRCm39) Y172* probably null Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Glul G A 1: 153,783,070 (GRCm39) M214I probably benign Het
Gm14496 A G 2: 181,642,797 (GRCm39) I823V probably benign Het
Gm6665 T C 18: 31,953,318 (GRCm39) N50S probably benign Het
Gm6729 T C 10: 86,376,782 (GRCm39) noncoding transcript Het
Gpr21 T A 2: 37,408,350 (GRCm39) C299S probably damaging Het
Hapln2 T A 3: 87,930,684 (GRCm39) N196Y probably benign Het
Hsd17b12 A G 2: 93,875,737 (GRCm39) V196A probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Kansl1 A T 11: 104,234,466 (GRCm39) L680Q probably damaging Het
Kcna3 T C 3: 106,945,251 (GRCm39) S505P possibly damaging Het
Klra1 A C 6: 130,349,828 (GRCm39) N203K probably benign Het
L3mbtl2 T A 15: 81,559,822 (GRCm39) I236N probably damaging Het
Mcm3ap C A 10: 76,343,195 (GRCm39) P1696T probably damaging Het
Mecom T C 3: 30,011,591 (GRCm39) D647G probably damaging Het
Mn1 A G 5: 111,566,612 (GRCm39) D194G probably damaging Het
Muc5ac A G 7: 141,347,426 (GRCm39) N407S probably benign Het
Mx2 C T 16: 97,361,551 (GRCm39) R584C probably benign Het
Myo1c A G 11: 75,559,055 (GRCm39) R597G probably benign Het
Nav3 T C 10: 109,541,467 (GRCm39) D1932G probably benign Het
Nwd2 T A 5: 63,951,585 (GRCm39) D205E probably benign Het
Obi1 T C 14: 104,716,622 (GRCm39) K584E probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Osmr T C 15: 6,873,848 (GRCm39) E183G possibly damaging Het
Peak1 A T 9: 56,113,971 (GRCm39) W627R probably damaging Het
Pkd1 C A 17: 24,814,131 (GRCm39) P4167Q probably damaging Het
Plekhg4 T A 8: 106,105,017 (GRCm39) L560Q probably damaging Het
Prg4 C T 1: 150,325,750 (GRCm39) W1217* probably null Het
Prkdc A G 16: 15,532,130 (GRCm39) I1465V probably benign Het
Pus1 A G 5: 110,925,505 (GRCm39) F105S probably damaging Het
Ranbp3l T C 15: 9,057,206 (GRCm39) S154P probably damaging Het
Rhbdl1 C T 17: 26,054,513 (GRCm39) G211S probably damaging Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Sash1 T A 10: 8,603,672 (GRCm39) N1127Y possibly damaging Het
Setbp1 C T 18: 78,901,577 (GRCm39) E697K possibly damaging Het
Slc27a3 A T 3: 90,293,624 (GRCm39) V587E probably benign Het
Slc38a2 A G 15: 96,589,043 (GRCm39) F454L possibly damaging Het
Sprn A T 7: 139,733,458 (GRCm39) probably benign Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tbc1d1 A G 5: 64,468,564 (GRCm39) E732G probably damaging Het
Tnfaip3 A G 10: 18,879,355 (GRCm39) F671S possibly damaging Het
Tor1aip2 C A 1: 155,940,540 (GRCm39) P282Q probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ttll2 A T 17: 7,619,789 (GRCm39) F46Y probably damaging Het
Ttn A G 2: 76,564,494 (GRCm39) S28548P probably damaging Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Usp32 A T 11: 84,897,830 (GRCm39) C1170* probably null Het
Usp54 G T 14: 20,610,972 (GRCm39) H1281Q probably benign Het
Vgll4 C T 6: 114,898,296 (GRCm39) G22S probably benign Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Zdhhc5 A T 2: 84,523,771 (GRCm39) F225Y probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly 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
R1061:Eif2a UTSW 3 58,452,486 (GRCm39) nonsense probably null
R1499:Eif2a UTSW 3 58,445,005 (GRCm39) nonsense probably null
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'- AACTCATGCCACTAGAGCCTG -3'
(R):5'- TAGGAGCACATGTGGCTGTTAAG -3'

Sequencing Primer
(F):5'- ACTAGAGCCTGCTGGTAGG -3'
(R):5'- AAGATATGCTCACCATCTGGG -3'
Posted On 2014-07-14