Incidental Mutation 'R1680:Eef1a2'
ID 188393
Institutional Source Beutler Lab
Gene Symbol Eef1a2
Ensembl Gene ENSMUSG00000016349
Gene Name eukaryotic translation elongation factor 1 alpha 2
Synonyms Eef1a, S1
MMRRC Submission 039716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1680 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181147653-181157014 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 181152941 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 155 (M155K)
Ref Sequence ENSEMBL: ENSMUSP00000054556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055990]
AlphaFold P62631
Predicted Effect possibly damaging
Transcript: ENSMUST00000055990
AA Change: M155K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: M155K

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
Ahnak T A 19: 9,009,963 (GRCm38) H2870Q probably benign Het
Arhgef33 C T 17: 80,347,651 (GRCm38) S95F probably damaging Het
Atp1a2 T A 1: 172,278,954 (GRCm38) D827V probably damaging Het
Bcat1 T G 6: 145,039,628 (GRCm38) D96A probably damaging Het
Birc6 A T 17: 74,548,746 (GRCm38) I184L probably benign Het
Ccdc129 C T 6: 55,968,766 (GRCm38) T824I probably damaging Het
Clca3b A T 3: 144,837,824 (GRCm38) L415M probably damaging Het
Clstn1 T C 4: 149,643,726 (GRCm38) V617A probably benign Het
Col22a1 G A 15: 71,799,361 (GRCm38) A1050V unknown Het
Col5a3 C T 9: 20,784,668 (GRCm38) probably null Het
Csmd3 G A 15: 47,741,170 (GRCm38) T1059I probably damaging Het
Dclk2 C T 3: 86,805,639 (GRCm38) R503Q possibly damaging Het
Dnm3 A G 1: 162,010,976 (GRCm38) V272A probably benign Het
Dnmt3a A G 12: 3,873,361 (GRCm38) Q187R probably damaging Het
Dpp9 A G 17: 56,190,103 (GRCm38) Y710H probably benign Het
Entpd8 G A 2: 25,084,024 (GRCm38) C331Y probably damaging Het
Erc1 A C 6: 119,575,761 (GRCm38) L1072R probably damaging Het
Fam160b2 T C 14: 70,586,851 (GRCm38) Y482C probably damaging Het
Gtf3c2 A G 5: 31,173,868 (GRCm38) S155P probably damaging Het
Gucy2c A G 6: 136,722,493 (GRCm38) S617P probably damaging Het
Ice1 T C 13: 70,605,448 (GRCm38) R840G probably benign Het
Il1rl2 T C 1: 40,351,793 (GRCm38) Y299H possibly damaging Het
Ints7 T G 1: 191,621,162 (GRCm38) probably null Het
Ireb2 C T 9: 54,881,518 (GRCm38) T92I probably damaging Het
Kcnj8 A T 6: 142,570,189 (GRCm38) L64* probably null Het
Mapk8ip3 A G 17: 24,901,011 (GRCm38) V983A probably damaging Het
Mertk A G 2: 128,801,636 (GRCm38) D985G probably benign Het
Mical3 A T 6: 120,959,643 (GRCm38) S1307R probably benign Het
Ncaph2 A G 15: 89,364,622 (GRCm38) D222G probably benign Het
Nf1 C A 11: 79,550,998 (GRCm38) S295* probably null Het
Nlrp12 T A 7: 3,241,174 (GRCm38) D236V probably damaging Het
Npnt A G 3: 132,906,802 (GRCm38) V74A probably benign Het
Oasl1 A G 5: 114,935,944 (GRCm38) D304G probably damaging Het
Olfr1098 C T 2: 86,923,161 (GRCm38) V124I probably benign Het
Olfr556 A G 7: 102,670,733 (GRCm38) D271G possibly damaging Het
Olfr834 A G 9: 18,988,516 (GRCm38) H176R possibly damaging Het
Olfr936 T C 9: 39,047,000 (GRCm38) I140V probably benign Het
Patz1 A G 11: 3,307,812 (GRCm38) K604E probably damaging Het
Pcsk6 T A 7: 66,035,250 (GRCm38) V793E probably benign Het
Pla2g4d C T 2: 120,277,750 (GRCm38) probably null Het
Plxnc1 A C 10: 94,841,551 (GRCm38) L938R probably benign Het
Pou4f2 G T 8: 78,434,831 (GRCm38) A381D probably damaging Het
Prdm4 A G 10: 85,899,223 (GRCm38) L685P possibly damaging Het
Pxn T A 5: 115,552,147 (GRCm38) V383E probably damaging Het
Rbl1 A G 2: 157,174,783 (GRCm38) L632P probably damaging Het
Rnf135 T A 11: 80,196,881 (GRCm38) S219T possibly damaging Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Sdk2 T C 11: 113,791,436 (GRCm38) D2039G possibly damaging Het
Slc5a6 A G 5: 31,042,644 (GRCm38) Y131H probably damaging Het
Slc9a1 T C 4: 133,418,080 (GRCm38) I492T probably damaging Het
Soga3 A T 10: 29,196,839 (GRCm38) Q709L probably damaging Het
Spag5 A G 11: 78,320,616 (GRCm38) K993E probably damaging Het
Sptbn1 T G 11: 30,159,371 (GRCm38) I75L possibly damaging Het
Syngap1 T C 17: 26,952,579 (GRCm38) S46P possibly damaging Het
Tfcp2l1 T A 1: 118,675,605 (GRCm38) F458I probably damaging Het
Tmem67 A G 4: 12,087,840 (GRCm38) V102A probably benign Het
Tomm70a T C 16: 57,121,961 (GRCm38) S34P unknown Het
Txlnb G T 10: 17,843,233 (GRCm38) G604V probably benign Het
Ube2q1 A G 3: 89,776,176 (GRCm38) T143A probably benign Het
Unc80 C T 1: 66,503,669 (GRCm38) R361* probably null Het
Vcan T C 13: 89,703,547 (GRCm38) D1098G probably benign Het
Vmn1r176 T A 7: 23,835,381 (GRCm38) T116S probably damaging Het
Wdr81 C T 11: 75,454,423 (GRCm38) R6K probably benign Het
Zan T A 5: 137,403,050 (GRCm38) T4136S unknown Het
Zbtb14 C A 17: 69,388,502 (GRCm38) F398L probably damaging Het
Zfp606 A T 7: 12,493,971 (GRCm38) H615L probably damaging Het
Zp3r A T 1: 130,582,880 (GRCm38) N433K probably benign Het
Other mutations in Eef1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00741:Eef1a2 APN 2 181,153,010 (GRCm38) missense possibly damaging 0.95
IGL02098:Eef1a2 APN 2 181,152,789 (GRCm38) missense probably benign
IGL02717:Eef1a2 APN 2 181,152,901 (GRCm38) missense probably benign
IGL03264:Eef1a2 APN 2 181,148,734 (GRCm38) missense possibly damaging 0.89
IGL03308:Eef1a2 APN 2 181,148,836 (GRCm38) splice site probably benign
R2140:Eef1a2 UTSW 2 181,148,742 (GRCm38) missense probably benign 0.03
R3877:Eef1a2 UTSW 2 181,152,833 (GRCm38) missense probably damaging 0.99
R4706:Eef1a2 UTSW 2 181,155,357 (GRCm38) missense probably damaging 0.96
R4902:Eef1a2 UTSW 2 181,148,088 (GRCm38) missense probably benign 0.02
R5846:Eef1a2 UTSW 2 181,152,983 (GRCm38) missense probably damaging 1.00
R6250:Eef1a2 UTSW 2 181,151,060 (GRCm38) missense possibly damaging 0.70
R6864:Eef1a2 UTSW 2 181,149,684 (GRCm38) missense probably benign 0.00
R6991:Eef1a2 UTSW 2 181,148,628 (GRCm38) missense possibly damaging 0.70
R9153:Eef1a2 UTSW 2 181,147,981 (GRCm38) makesense probably null
X0027:Eef1a2 UTSW 2 181,151,036 (GRCm38) missense probably benign 0.38
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09