Incidental Mutation 'IGL02105:Eef1a1'
ID 279922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1a1
Ensembl Gene ENSMUSG00000037742
Gene Name eukaryotic translation elongation factor 1 alpha 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02105
Quality Score
Status
Chromosome 9
Chromosomal Location 78385735-78389006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78387833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 35 (D35G)
Ref Sequence ENSEMBL: ENSMUSP00000120438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042235] [ENSMUST00000154207] [ENSMUST00000156988]
AlphaFold P10126
Predicted Effect probably benign
Transcript: ENSMUST00000042235
AA Change: D35G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000042457
Gene: ENSMUSG00000037742
AA Change: D35G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 238 3.4e-55 PFAM
Pfam:GTP_EFTU_D2 260 327 6.3e-16 PFAM
Pfam:GTP_EFTU_D3 333 442 5e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150960
Predicted Effect probably benign
Transcript: ENSMUST00000154207
AA Change: D35G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000120438
Gene: ENSMUSG00000037742
AA Change: D35G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 238 1.2e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156988
AA Change: D35G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116821
Gene: ENSMUSG00000037742
AA Change: D35G

DomainStartEndE-ValueType
Pfam:GTP_EFTU 5 186 1.9e-53 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 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G T 3: 95,587,374 (GRCm39) P734H probably damaging Het
Arfip2 A T 7: 105,288,590 (GRCm39) I14N probably damaging Het
Asap3 G T 4: 135,955,785 (GRCm39) probably null Het
Atg2a T A 19: 6,300,433 (GRCm39) probably benign Het
Bbs12 T C 3: 37,374,296 (GRCm39) L248P probably damaging Het
Brd3 A T 2: 27,349,788 (GRCm39) I255N probably damaging Het
Ccdc141 A G 2: 76,879,921 (GRCm39) probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd9 T A 8: 91,659,116 (GRCm39) D25E probably damaging Het
Cobl T C 11: 12,199,651 (GRCm39) K1325R probably damaging Het
Dnmt1 T A 9: 20,819,178 (GRCm39) E1486V unknown Het
Dock2 T C 11: 34,605,352 (GRCm39) N256D probably damaging Het
Dpp3 G A 19: 4,966,799 (GRCm39) S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 (GRCm39) G2992R probably damaging Het
Fntb A G 12: 76,909,263 (GRCm39) K84E probably benign Het
Gfi1 A G 5: 107,871,588 (GRCm39) probably null Het
Glb1l3 T A 9: 26,729,823 (GRCm39) I516F probably damaging Het
Hltf A G 3: 20,146,921 (GRCm39) N560S probably damaging Het
Kif21b A G 1: 136,099,041 (GRCm39) N1443S probably benign Het
Knl1 T A 2: 118,902,289 (GRCm39) I1330K probably benign Het
Krt20 C T 11: 99,328,827 (GRCm39) V33M probably benign Het
Lao1 A G 4: 118,825,640 (GRCm39) T487A probably damaging Het
Larp4 A G 15: 99,883,952 (GRCm39) E63G probably damaging Het
Lrp1 A G 10: 127,380,448 (GRCm39) V3901A probably damaging Het
Lrrc17 A G 5: 21,775,255 (GRCm39) I272M probably benign Het
Malrd1 A T 2: 16,132,674 (GRCm39) Q1865L unknown Het
Mtg1 T C 7: 139,730,119 (GRCm39) L305P probably damaging Het
Mylk4 T A 13: 32,904,545 (GRCm39) E427D probably benign Het
Myom1 G T 17: 71,354,711 (GRCm39) probably benign Het
Nbeal1 A G 1: 60,292,660 (GRCm39) E1104G probably damaging Het
Obox5 A G 7: 15,492,500 (GRCm39) M152V probably benign Het
Olfm2 C T 9: 20,583,476 (GRCm39) V203M probably damaging Het
Or2l13 T G 16: 19,306,011 (GRCm39) L141R probably benign Het
Or8b12c A T 9: 37,715,891 (GRCm39) H228L possibly damaging Het
Pf4 A G 5: 90,921,114 (GRCm39) S105G probably damaging Het
Phlpp2 T A 8: 110,631,040 (GRCm39) I228N probably damaging Het
Sall1 T G 8: 89,759,196 (GRCm39) S303R probably damaging Het
Setd5 A G 6: 113,094,541 (GRCm39) E486G probably damaging Het
Slc9a5 C T 8: 106,076,075 (GRCm39) P23S probably damaging Het
Tbc1d9b T A 11: 50,040,653 (GRCm39) I390N probably damaging Het
Trp53 T C 11: 69,479,329 (GRCm39) V169A probably damaging Het
Usp4 A G 9: 108,262,131 (GRCm39) D791G probably damaging Het
Vmn1r76 A G 7: 11,664,417 (GRCm39) S266P possibly damaging Het
Vmn2r27 A G 6: 124,174,308 (GRCm39) probably benign Het
Xirp1 C T 9: 119,846,063 (GRCm39) G940E probably damaging Het
Zfp407 A T 18: 84,580,845 (GRCm39) C89* probably null Het
Other mutations in Eef1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1395:Eef1a1 UTSW 9 78,386,300 (GRCm39) missense probably benign 0.00
R5802:Eef1a1 UTSW 9 78,386,318 (GRCm39) missense probably damaging 1.00
R8161:Eef1a1 UTSW 9 78,387,672 (GRCm39) missense probably benign 0.01
R9621:Eef1a1 UTSW 9 78,386,632 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16