Incidental Mutation 'R3980:Eif2a'
ID 311233
Institutional Source Beutler Lab
Gene Symbol Eif2a
Ensembl Gene ENSMUSG00000027810
Gene Name eukaryotic translation initiation factor 2A
Synonyms D3Ertd194e
MMRRC Submission 040843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3980 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 58433252-58464922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58446960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 45 (I45T)
Ref Sequence ENSEMBL: ENSMUSP00000120901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029387] [ENSMUST00000135876] [ENSMUST00000138848] [ENSMUST00000154219]
AlphaFold Q8BJW6
Predicted Effect probably benign
Transcript: ENSMUST00000029387
AA Change: I62T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: I62T

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
AA Change: I45T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: I45T

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: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,454,792 (GRCm39) G268R probably damaging Het
Amacr T A 15: 10,989,015 (GRCm39) Y240* probably null Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Arhgef25 C A 10: 127,023,089 (GRCm39) C106F probably damaging Het
Bean1 A T 8: 104,937,730 (GRCm39) Q103L possibly damaging Het
Ccr9 A T 9: 123,608,441 (GRCm39) N41I probably benign Het
Ceacam16 A G 7: 19,592,558 (GRCm39) F117L probably benign Het
Col4a1 T C 8: 11,289,155 (GRCm39) probably benign Het
Csk A G 9: 57,538,063 (GRCm39) Y48H probably damaging Het
Csmd1 T A 8: 15,956,056 (GRCm39) K3384* probably null Het
Ctnnd2 T A 15: 30,669,589 (GRCm39) H399Q probably benign Het
Cutal T C 2: 34,772,325 (GRCm39) Y30H possibly damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Defb30 C A 14: 63,273,421 (GRCm39) C64F probably damaging Het
Esyt1 T A 10: 128,347,393 (GRCm39) D1044V probably damaging Het
Gabpb2 A T 3: 95,096,081 (GRCm39) V382E probably damaging Het
Glb1 T A 9: 114,246,132 (GRCm39) I61K probably damaging Het
Insyn2b G A 11: 34,352,678 (GRCm39) C240Y probably benign Het
Kcnt1 T C 2: 25,783,226 (GRCm39) V263A possibly damaging Het
Kdm5b A G 1: 134,547,408 (GRCm39) D1019G probably benign Het
Klhl2 A T 8: 65,196,109 (GRCm39) L545M probably damaging Het
Klhl2 C A 8: 65,196,115 (GRCm39) G543C probably damaging Het
Krt31 G T 11: 99,939,030 (GRCm39) Q264K probably damaging Het
Lmnb1 A G 18: 56,864,091 (GRCm39) D232G probably damaging Het
Loxhd1 T C 18: 77,501,855 (GRCm39) F859L probably damaging Het
Map7 C A 10: 20,143,099 (GRCm39) T416K unknown Het
Med18 T A 4: 132,190,251 (GRCm39) I45F probably benign Het
Mn1 A T 5: 111,569,636 (GRCm39) H1202L possibly damaging Het
Mpp7 T C 18: 7,444,062 (GRCm39) D120G probably benign Het
Nlrp1b A T 11: 71,072,437 (GRCm39) F469I possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Nrap G A 19: 56,369,984 (GRCm39) A206V probably benign Het
Nuggc T C 14: 65,856,542 (GRCm39) probably null Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or10ak12 T A 4: 118,666,500 (GRCm39) Y187F probably benign Het
Or51a25 T C 7: 102,372,959 (GRCm39) N246S probably damaging Het
Parp3 T C 9: 106,351,267 (GRCm39) D278G probably damaging Het
Phc3 T A 3: 30,991,080 (GRCm39) Q346L probably damaging Het
Pigo A G 4: 43,019,231 (GRCm39) L1029P probably damaging Het
Plcb3 A G 19: 6,943,803 (GRCm39) I66T probably damaging Het
Plch2 T C 4: 155,069,255 (GRCm39) S1019G probably benign Het
Plekhg6 C A 6: 125,350,146 (GRCm39) C264F probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pou4f2 G T 8: 79,162,067 (GRCm39) H179N possibly damaging Het
Prpf39 T C 12: 65,108,231 (GRCm39) probably benign Het
Rapgef1 G A 2: 29,609,662 (GRCm39) V700I probably benign Het
Rdh14 A G 12: 10,444,703 (GRCm39) I185V probably benign Het
Rnf111 A T 9: 70,349,607 (GRCm39) H785Q probably damaging Het
Rttn C T 18: 89,035,399 (GRCm39) R758W probably benign Het
Sik3 G A 9: 46,113,361 (GRCm39) V601M probably damaging Het
Slc22a14 T C 9: 119,007,552 (GRCm39) T286A probably benign Het
Slc36a3 G A 11: 55,026,209 (GRCm39) T203I probably benign Het
Spata31 A T 13: 65,070,468 (GRCm39) Q872L probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Sphkap A T 1: 83,245,215 (GRCm39) probably null Het
Stat6 T C 10: 127,491,248 (GRCm39) V463A probably damaging Het
Stx7 T C 10: 24,060,947 (GRCm39) S225P probably damaging Het
Sult2a7 A T 7: 14,207,334 (GRCm39) probably benign Het
Tada2a A T 11: 83,993,946 (GRCm39) F179L probably benign Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tfap2d A G 1: 19,236,187 (GRCm39) I382V possibly damaging Het
Tshr C A 12: 91,504,517 (GRCm39) A485D probably damaging Het
Vmn1r32 T A 6: 66,530,698 (GRCm39) Y26F probably damaging Het
Vmn1r5 A G 6: 56,962,636 (GRCm39) T104A probably damaging Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null 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
R1922:Eif2a UTSW 3 58,455,951 (GRCm39) missense probably damaging 1.00
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'- TGCTGGCTCCATTGGAAGTC -3'
(R):5'- GGTTTCTGCTTGACCTTAAACTAC -3'

Sequencing Primer
(F):5'- CCATTGGAAGTCCTATCACTTGTGG -3'
(R):5'- TGCTTGACCTTAAACTACCATTTTAC -3'
Posted On 2015-04-29