Incidental Mutation 'R3841:Eef1e1'
ID 277176
Institutional Source Beutler Lab
Gene Symbol Eef1e1
Ensembl Gene ENSMUSG00000001707
Gene Name eukaryotic translation elongation factor 1 epsilon 1
Synonyms AIMP3, 1110003A02Rik
MMRRC Submission 040781-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3841 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 38829667-38843004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38840167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 46 (T46I)
Ref Sequence ENSEMBL: ENSMUSP00000001757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001757]
AlphaFold Q9D1M4
Predicted Effect probably damaging
Transcript: ENSMUST00000001757
AA Change: T46I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001757
Gene: ENSMUSG00000001707
AA Change: T46I

DomainStartEndE-ValueType
Pfam:GST_C_2 54 158 7.5e-8 PFAM
Pfam:GST_C_3 64 151 6.1e-10 PFAM
Pfam:GST_C 83 153 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224487
Meta Mutation Damage Score 0.6837 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele display early embryonic lethality while heterozygous mice exhibit prenatal semi-lethality and a significantly increased incidence of spontaneous tumorigenesis after 15 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,620,104 (GRCm39) K11N probably benign Het
Atp8b3 A G 10: 80,365,540 (GRCm39) F405L possibly damaging Het
BC035947 G T 1: 78,474,482 (GRCm39) N683K probably benign Het
Bmper T A 9: 23,384,727 (GRCm39) probably null Het
Btnl7-ps A G 17: 34,761,550 (GRCm39) noncoding transcript Het
Cmya5 A G 13: 93,231,140 (GRCm39) V1316A probably damaging Het
Cracd A T 5: 77,006,858 (GRCm39) Q1073L unknown Het
Dgcr6 C A 16: 17,888,077 (GRCm39) Y200* probably null Het
Dsp A C 13: 38,381,681 (GRCm39) I2210L probably benign Het
Epc2 A G 2: 49,378,750 (GRCm39) K68R probably damaging Het
F11r G T 1: 171,288,457 (GRCm39) R100L probably damaging Het
Fam83c C T 2: 155,676,668 (GRCm39) R34H probably benign Het
Fbxw25 A T 9: 109,491,202 (GRCm39) Y105* probably null Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Hipk2 T C 6: 38,795,861 (GRCm39) E136G probably damaging Het
Hsph1 T A 5: 149,544,180 (GRCm39) probably null Het
Impdh1 A G 6: 29,202,768 (GRCm39) S421P probably damaging Het
Jhy T A 9: 40,856,142 (GRCm39) E115V probably benign Het
Kmt2a T C 9: 44,742,588 (GRCm39) probably benign Het
Ldlrap1 T C 4: 134,477,747 (GRCm39) T159A probably damaging Het
Lrrc4c A G 2: 97,460,537 (GRCm39) T388A probably damaging Het
Map3k10 C A 7: 27,357,789 (GRCm39) C663F possibly damaging Het
Me3 A T 7: 89,435,701 (GRCm39) N179Y possibly damaging Het
Medag T A 5: 149,350,888 (GRCm39) I121N probably damaging Het
Mocos C T 18: 24,809,681 (GRCm39) A428V probably damaging Het
Mok C T 12: 110,781,591 (GRCm39) V59M probably benign Het
Neb C A 2: 52,097,672 (GRCm39) probably null Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or52s1 G A 7: 102,861,900 (GRCm39) G267R probably damaging Het
Or6c35 A G 10: 129,169,202 (GRCm39) I151V probably benign Het
Otud1 G T 2: 19,663,554 (GRCm39) E228* probably null Het
Parp4 A T 14: 56,825,235 (GRCm39) N120Y probably damaging Het
Ptprb T C 10: 116,182,887 (GRCm39) V1521A possibly damaging Het
Rap1gap T C 4: 137,444,758 (GRCm39) F182S probably damaging Het
Rcan2 A G 17: 44,347,870 (GRCm39) K193R probably benign Het
Rdh19 A T 10: 127,692,755 (GRCm39) M141L probably benign Het
Selenok C T 14: 29,695,337 (GRCm39) R72* probably null Het
Tbpl1 A G 10: 22,587,807 (GRCm39) probably benign Het
Tnxb A G 17: 34,917,897 (GRCm39) E2270G possibly damaging Het
Tulp1 A G 17: 28,572,689 (GRCm39) V489A probably damaging Het
Utp20 A T 10: 88,611,065 (GRCm39) probably benign Het
Zfp617 G A 8: 72,685,961 (GRCm39) G97E probably damaging Het
Zfp773 A G 7: 7,135,390 (GRCm39) V402A possibly damaging Het
Other mutations in Eef1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Eef1e1 APN 13 38,840,012 (GRCm39) splice site probably benign
PIT4431001:Eef1e1 UTSW 13 38,842,938 (GRCm39) missense probably damaging 1.00
R0183:Eef1e1 UTSW 13 38,840,162 (GRCm39) missense probably damaging 1.00
R1120:Eef1e1 UTSW 13 38,842,910 (GRCm39) missense probably damaging 0.98
R1458:Eef1e1 UTSW 13 38,840,099 (GRCm39) missense probably damaging 1.00
R1652:Eef1e1 UTSW 13 38,840,081 (GRCm39) missense possibly damaging 0.90
R5779:Eef1e1 UTSW 13 38,830,249 (GRCm39) missense probably damaging 0.96
R8047:Eef1e1 UTSW 13 38,830,222 (GRCm39) missense probably damaging 1.00
R8324:Eef1e1 UTSW 13 38,839,045 (GRCm39) missense probably damaging 1.00
R9462:Eef1e1 UTSW 13 38,838,997 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACAGCCTGAAGAGACAGTC -3'
(R):5'- AGTTACGTCACCCAGCATGC -3'

Sequencing Primer
(F):5'- GTCAAGATACCTTCAGCAGAGTCTG -3'
(R):5'- CCCAGCATGCTGTTAAGTTACAG -3'
Posted On 2015-04-06