Incidental Mutation 'IGL02323:Eif2a'
ID288344
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 #IGL02323
Quality Score
Status
Chromosome3
Chromosomal Location58525821-58557501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58548603 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 341 (M341T)
Ref Sequence ENSEMBL: ENSMUSP00000029387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029387] [ENSMUST00000135876] [ENSMUST00000138848] [ENSMUST00000154219]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029387
AA Change: M341T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: M341T

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,291,064 E344G probably damaging Het
Actrt2 T C 4: 154,666,798 T294A probably benign Het
Afg1l C A 10: 42,454,510 E54* probably null Het
Ahi1 T C 10: 20,972,034 I447T probably damaging Het
Akap6 T C 12: 53,140,429 I1542T probably benign Het
Ankrd34c A C 9: 89,729,980 S103A possibly damaging Het
Apc C T 18: 34,315,810 Q1886* probably null Het
Bcas3 A G 11: 85,495,845 T148A probably damaging Het
Bud13 A G 9: 46,283,052 T8A probably benign Het
Casr A T 16: 36,509,710 Y421N probably damaging Het
Cd163l1 G T 7: 140,228,659 A828S probably benign Het
Clasp2 T C 9: 113,868,726 probably benign Het
Clca4b T C 3: 144,913,321 T686A probably benign Het
Cntln T A 4: 85,049,789 H748Q probably benign Het
D430042O09Rik T A 7: 125,842,829 S637T probably benign Het
Dmtf1 A T 5: 9,120,056 D683E possibly damaging Het
Dnmt3l A G 10: 78,063,318 K117R probably damaging Het
Epg5 T A 18: 78,012,832 Y1740* probably null Het
Fam149b C T 14: 20,363,301 T157I possibly damaging Het
Fam89b A G 19: 5,728,871 probably null Het
Fbxo3 T A 2: 104,047,951 N232K probably benign Het
Gm5415 A T 1: 32,545,704 L375* probably null Het
Gm6588 A G 5: 112,449,734 Y49C probably benign Het
Gnl3 A C 14: 31,017,402 H16Q probably damaging Het
Gpld1 T G 13: 24,982,774 V669G probably damaging Het
Grik3 A G 4: 125,685,990 probably benign Het
Gzmg A C 14: 56,157,272 Y180D probably benign Het
H2-M9 A T 17: 36,640,741 Y281N probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mrs2 T A 13: 25,004,957 I125F probably damaging Het
Nfam1 T A 15: 83,022,951 N15I probably benign Het
Nol8 T A 13: 49,655,245 probably benign Het
Obscn A G 11: 59,008,522 V6483A possibly damaging Het
Olfr444 A T 6: 42,955,983 I162F probably benign Het
Osbpl3 A G 6: 50,346,326 probably null Het
Pla2g16 G A 19: 7,574,992 W24* probably null Het
Ppfibp2 A T 7: 107,738,629 Q652H probably damaging Het
Rbm47 A G 5: 66,026,429 V277A probably damaging Het
Robo3 G A 9: 37,422,201 A716V probably benign Het
Slc29a4 A G 5: 142,717,652 E227G probably damaging Het
Slf1 T C 13: 77,051,294 D656G possibly damaging Het
Sox1 A G 8: 12,396,692 H111R possibly damaging Het
Svep1 G A 4: 58,070,236 Q2517* probably null Het
Syndig1 G T 2: 149,899,787 V98L probably benign Het
Synpo2 T C 3: 123,117,534 E154G probably benign Het
Tex37 A G 6: 70,913,695 probably benign Het
Tkt G A 14: 30,571,035 G490S possibly damaging Het
Tmem200a T C 10: 25,993,430 N314D probably benign Het
Tnfaip8l1 A T 17: 56,172,009 T100S probably damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Trim12c C T 7: 104,348,266 A28T probably benign Het
Trpc7 C A 13: 56,783,751 V595L possibly damaging Het
Ttc39c A G 18: 12,736,743 R575G probably null Het
Ttn T G 2: 76,851,575 probably benign Het
Ttn C T 2: 76,723,265 V31003M probably damaging Het
Ugt2b37 A T 5: 87,250,564 probably benign Het
Uqcrb A T 13: 66,902,810 probably benign Het
Usp33 T A 3: 152,370,387 W415R probably benign Het
Vmn2r110 A T 17: 20,596,137 D41E probably damaging Het
Vmn2r98 A T 17: 19,065,851 I204F probably damaging Het
Other mutations in Eif2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Eif2a APN 3 58548671 missense probably benign 0.01
IGL03086:Eif2a APN 3 58541117 missense probably benign 0.00
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
Posted On2015-04-16