Incidental Mutation 'IGL03086:Eif2a'
ID418103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif2a
Ensembl Gene ENSMUSG00000027810
Gene Nameeukaryotic translation initiation factor 2A
SynonymsD3Ertd194e
Accession Numbers

Genbank: NM_001005509.2; Ensembl: ENSMUST00000029387

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03086
Quality Score
Status
Chromosome3
Chromosomal Location58525821-58557501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58541117 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 124 (I124V)
Ref Sequence ENSEMBL: ENSMUSP00000029387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029387] [ENSMUST00000135876] [ENSMUST00000138848] [ENSMUST00000154219]
Predicted Effect probably benign
Transcript: ENSMUST00000029387
AA Change: I124V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: I124V

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: I107V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: I107V

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,643,278 I1158T possibly damaging Het
Ankrd11 A G 8: 122,894,510 S868P probably damaging Het
Atad3a C T 4: 155,748,670 probably null Het
Cadm4 A T 7: 24,500,815 N250Y probably damaging Het
Cd300c2 T C 11: 115,000,823 E75G possibly damaging Het
Cdc23 A C 18: 34,637,186 probably benign Het
Cep97 A G 16: 55,915,296 S380P probably benign Het
Ckap5 T A 2: 91,570,276 probably benign Het
Col6a4 A T 9: 106,082,862 probably benign Het
Dclk1 G A 3: 55,247,367 V73M probably damaging Het
Dnah8 T C 17: 30,742,780 L2297P probably damaging Het
Fam227b A T 2: 126,119,031 I226K probably benign Het
Fcgr1 G T 3: 96,284,498 Y331* probably null Het
Helq T C 5: 100,796,927 T106A possibly damaging Het
Ly9 A T 1: 171,605,170 Y92N probably benign Het
Myom1 G A 17: 71,108,671 C1256Y probably damaging Het
Ndc80 G A 17: 71,520,925 T104I probably benign Het
Olfr1389 A G 11: 49,430,805 T110A probably benign Het
Olfr513 A T 7: 108,755,796 probably benign Het
Olfr54 T A 11: 51,027,730 C243S probably damaging Het
Olfr570 T C 7: 102,900,406 F13S probably damaging Het
Phtf2 T C 5: 20,764,275 N679S probably damaging Het
Polq G A 16: 37,091,049 R2382K probably benign Het
Recql4 C T 15: 76,706,268 R672Q probably benign Het
Selenbp2 A G 3: 94,699,638 N197S probably damaging Het
Sirpb1a C A 3: 15,426,328 probably null Het
Slc12a2 T A 18: 57,921,784 D832E probably benign Het
Slc13a1 G A 6: 24,118,003 A245V probably damaging Het
Unc80 A G 1: 66,509,474 D635G probably damaging Het
Utp18 T C 11: 93,876,056 Q275R probably damaging Het
Wdr35 A G 12: 9,008,692 probably null Het
Zfyve26 A G 12: 79,295,564 V36A probably damaging Het
Other mutations in Eif2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Eif2a APN 3 58548603 missense possibly damaging 0.89
IGL02823:Eif2a APN 3 58548671 missense probably benign 0.01
IGL03165:Eif2a APN 3 58548628 nonsense probably null
1mM(1):Eif2a UTSW 3 58545303 missense possibly damaging 0.75
PIT4576001:Eif2a UTSW 3 58545553 missense probably damaging 1.00
R0540:Eif2a UTSW 3 58555652 critical splice donor site probably null
R0607:Eif2a UTSW 3 58555652 critical splice donor site probably null
R1061:Eif2a UTSW 3 58545065 nonsense probably null
R1499:Eif2a UTSW 3 58537584 nonsense probably null
R1922:Eif2a UTSW 3 58548530 missense probably damaging 1.00
R3980:Eif2a UTSW 3 58539539 missense probably benign 0.00
R4017:Eif2a UTSW 3 58545355 missense probably damaging 1.00
R4080:Eif2a UTSW 3 58539629 missense possibly damaging 0.52
R5528:Eif2a UTSW 3 58548512 missense probably damaging 1.00
R6320:Eif2a UTSW 3 58557096 intron probably null
R7081:Eif2a UTSW 3 58541718 critical splice donor site probably null
R7414:Eif2a UTSW 3 58526081 nonsense probably null
R7447:Eif2a UTSW 3 58545542 missense probably damaging 0.97
R7497:Eif2a UTSW 3 58548681 missense probably damaging 1.00
R7701:Eif2a UTSW 3 58552570 missense possibly damaging 0.72
Posted On2016-08-02