Incidental Mutation 'IGL03264:Eef1a2'
ID 415010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1a2
Ensembl Gene ENSMUSG00000016349
Gene Name eukaryotic translation elongation factor 1 alpha 2
Synonyms S1, Eef1a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03264
Quality Score
Status
Chromosome 2
Chromosomal Location 180789446-180798807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 180790527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 376 (K376N)
Ref Sequence ENSEMBL: ENSMUSP00000054556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055990]
AlphaFold P62631
Predicted Effect possibly damaging
Transcript: ENSMUST00000055990
AA Change: K376N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: K376N

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 238 5.3e-56 PFAM
Pfam:GTP_EFTU_D2 260 327 1.5e-15 PFAM
Pfam:GTP_EFTU_D3 333 442 8.4e-42 PFAM
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 an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T G 17: 31,283,428 (GRCm39) S38A probably benign Het
Alkbh1 T G 12: 87,478,197 (GRCm39) D238A probably damaging Het
Arhgef17 A T 7: 100,529,220 (GRCm39) D1531E probably benign Het
Bltp1 A T 3: 37,056,784 (GRCm39) I3152F probably damaging Het
Cacng3 G T 7: 122,271,180 (GRCm39) G62W probably damaging Het
Cdh22 T C 2: 164,958,093 (GRCm39) I625V probably benign Het
Ces5a T C 8: 94,228,898 (GRCm39) N444S possibly damaging Het
Chst13 A T 6: 90,286,193 (GRCm39) Y256* probably null Het
Clcn5 T A X: 7,044,613 (GRCm39) H177L probably benign Het
Dars1 G A 1: 128,341,427 (GRCm39) R63C probably damaging Het
Dcun1d4 A G 5: 73,677,572 (GRCm39) S84G probably benign Het
Dcxr T C 11: 120,617,298 (GRCm39) N82D probably damaging Het
Efhc1 G A 1: 21,037,715 (GRCm39) M297I probably benign Het
Etfb G T 7: 43,101,897 (GRCm39) V64F probably damaging Het
Fam135b A C 15: 71,334,637 (GRCm39) N852K probably benign Het
Gigyf2 T C 1: 87,376,790 (GRCm39) probably benign Het
Gria4 T C 9: 4,513,288 (GRCm39) K274E probably benign Het
Irag1 A T 7: 110,525,553 (GRCm39) S200T probably benign Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Med12l C T 3: 59,208,788 (GRCm39) Q2139* probably null Het
Plxna4 A G 6: 32,155,337 (GRCm39) F1536L possibly damaging Het
Pramel19 A T 4: 101,798,329 (GRCm39) Q100L probably damaging Het
Rmnd5a A G 6: 71,370,119 (GRCm39) I389T probably damaging Het
Rnf128 T G X: 138,511,985 (GRCm39) V144G probably damaging Het
Rpgrip1 A G 14: 52,378,109 (GRCm39) T486A possibly damaging Het
Rps6kc1 T C 1: 190,604,026 (GRCm39) T199A probably benign Het
Skint5 T A 4: 113,343,854 (GRCm39) D1338V unknown Het
Slc35g2 A T 9: 100,434,699 (GRCm39) I324K possibly damaging Het
Slc4a5 G A 6: 83,238,507 (GRCm39) R225H probably damaging Het
Srgap3 A T 6: 112,793,636 (GRCm39) H113Q probably damaging Het
Stpg2 A C 3: 139,014,970 (GRCm39) K378N possibly damaging Het
Svep1 A G 4: 58,066,422 (GRCm39) probably benign Het
Utp11 T C 4: 124,573,521 (GRCm39) K218E probably damaging Het
Vmn2r53 T A 7: 12,315,819 (GRCm39) I667F possibly damaging Het
Wdfy3 A G 5: 102,048,016 (GRCm39) L1763P probably damaging Het
Wnt2 A G 6: 17,989,959 (GRCm39) Y313H probably benign Het
Zfp638 T C 6: 83,923,229 (GRCm39) S676P probably benign Het
Zfp747l1 A G 7: 126,984,811 (GRCm39) probably benign Het
Other mutations in Eef1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Eef1a2 APN 2 180,794,803 (GRCm39) missense possibly damaging 0.95
IGL02098:Eef1a2 APN 2 180,794,582 (GRCm39) missense probably benign
IGL02717:Eef1a2 APN 2 180,794,694 (GRCm39) missense probably benign
IGL03308:Eef1a2 APN 2 180,790,629 (GRCm39) splice site probably benign
R1680:Eef1a2 UTSW 2 180,794,734 (GRCm39) missense possibly damaging 0.84
R2140:Eef1a2 UTSW 2 180,790,535 (GRCm39) missense probably benign 0.03
R3877:Eef1a2 UTSW 2 180,794,626 (GRCm39) missense probably damaging 0.99
R4706:Eef1a2 UTSW 2 180,797,150 (GRCm39) missense probably damaging 0.96
R4902:Eef1a2 UTSW 2 180,789,881 (GRCm39) missense probably benign 0.02
R5846:Eef1a2 UTSW 2 180,794,776 (GRCm39) missense probably damaging 1.00
R6250:Eef1a2 UTSW 2 180,792,853 (GRCm39) missense possibly damaging 0.70
R6864:Eef1a2 UTSW 2 180,791,477 (GRCm39) missense probably benign 0.00
R6991:Eef1a2 UTSW 2 180,790,421 (GRCm39) missense possibly damaging 0.70
R9153:Eef1a2 UTSW 2 180,789,774 (GRCm39) makesense probably null
X0027:Eef1a2 UTSW 2 180,792,829 (GRCm39) missense probably benign 0.38
Posted On 2016-08-02