Incidental Mutation 'IGL02325:Eef1e1'
ID 288453
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1e1
Ensembl Gene ENSMUSG00000001707
Gene Name eukaryotic translation elongation factor 1 epsilon 1
Synonyms AIMP3, 1110003A02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02325
Quality Score
Status
Chromosome 13
Chromosomal Location 38829667-38843004 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 38840012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001757]
AlphaFold Q9D1M4
Predicted Effect probably benign
Transcript: ENSMUST00000001757
SMART Domains Protein: ENSMUSP00000001757
Gene: ENSMUSG00000001707

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
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 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,013 (GRCm39) I233N probably damaging Het
Agtpbp1 C T 13: 59,648,303 (GRCm39) G393S probably benign Het
Ahctf1 T C 1: 179,603,580 (GRCm39) D822G probably benign Het
Alpk1 T C 3: 127,473,552 (GRCm39) N817S probably benign Het
Aoah G A 13: 21,101,295 (GRCm39) E272K probably damaging Het
Aoc1 A G 6: 48,882,829 (GRCm39) D235G possibly damaging Het
Ccdc186 G T 19: 56,801,788 (GRCm39) Q110K probably benign Het
Celsr2 G T 3: 108,320,187 (GRCm39) T875K probably damaging Het
Chdh T C 14: 29,754,782 (GRCm39) V264A probably benign Het
Col15a1 A G 4: 47,289,364 (GRCm39) T854A probably damaging Het
Cuedc1 A T 11: 88,060,999 (GRCm39) E114V probably null Het
Ddx23 A T 15: 98,545,074 (GRCm39) D677E possibly damaging Het
Ddx24 A G 12: 103,382,525 (GRCm39) V640A probably damaging Het
Ddx25 T C 9: 35,465,804 (GRCm39) probably benign Het
Ddx43 T C 9: 78,309,772 (GRCm39) probably benign Het
Diaph1 T C 18: 37,986,653 (GRCm39) K1111E probably damaging Het
Dnah9 T C 11: 65,725,043 (GRCm39) D4370G probably damaging Het
Egfem1 T C 3: 29,206,066 (GRCm39) I101T probably benign Het
Gpr142 G T 11: 114,696,947 (GRCm39) L164F probably damaging Het
Gtf2h5 T A 17: 6,131,106 (GRCm39) probably null Het
Hap1 T A 11: 100,245,190 (GRCm39) probably null Het
Hemgn T G 4: 46,396,085 (GRCm39) I384L probably benign Het
Ints3 A T 3: 90,311,349 (GRCm39) H419Q probably damaging Het
Itgb2 T C 10: 77,383,026 (GRCm39) L132P probably damaging Het
Krtap29-1 C T 11: 99,869,159 (GRCm39) V241M probably damaging Het
Lrguk A G 6: 34,106,114 (GRCm39) E713G probably benign Het
Lrrk2 G T 15: 91,610,511 (GRCm39) probably null Het
Nlrp14 A G 7: 106,781,523 (GRCm39) D240G possibly damaging Het
Omt2b A T 9: 78,235,854 (GRCm39) T60S possibly damaging Het
Or10ag52 G T 2: 87,043,850 (GRCm39) G205W probably damaging Het
Pcdhb2 A G 18: 37,429,733 (GRCm39) N569D possibly damaging Het
Plcd3 G A 11: 102,971,447 (GRCm39) R66* probably null Het
Polr1a G A 6: 71,897,641 (GRCm39) R212Q probably benign Het
Pou3f2 A T 4: 22,487,020 (GRCm39) L371Q probably damaging Het
Rnf207 A T 4: 152,396,237 (GRCm39) I509N probably damaging Het
Sema5a T G 15: 32,686,977 (GRCm39) S1030A possibly damaging Het
Shank1 C A 7: 43,976,504 (GRCm39) S534* probably null Het
Sntg2 T C 12: 30,245,542 (GRCm39) T495A probably benign Het
Spem2 A T 11: 69,707,789 (GRCm39) V392D probably benign Het
Srrm2 T A 17: 24,029,453 (GRCm39) probably benign Het
Tbc1d8 A T 1: 39,433,321 (GRCm39) F287Y probably damaging Het
Tgfbi A G 13: 56,779,043 (GRCm39) D422G probably benign Het
Tppp G A 13: 74,169,295 (GRCm39) A12T probably benign Het
Usp46 C T 5: 74,197,689 (GRCm39) probably null Het
Zdhhc12 C T 2: 29,981,448 (GRCm39) V205I probably damaging Het
Other mutations in Eef1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3841:Eef1e1 UTSW 13 38,840,167 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16