Incidental Mutation 'IGL00741:Eef1a2'
ID10445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef1a2
Ensembl Gene ENSMUSG00000016349
Gene Nameeukaryotic translation elongation factor 1 alpha 2
SynonymsEef1a, S1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00741
Quality Score
Status
Chromosome2
Chromosomal Location181147653-181157014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 181153010 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 132 (Q132R)
Ref Sequence ENSEMBL: ENSMUSP00000054556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055990]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055990
AA Change: Q132R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: Q132R

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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,964,834 probably benign Het
Abcc9 A C 6: 142,687,230 V262G probably benign Het
Adamtsl1 T C 4: 86,276,948 V534A probably damaging Het
Arhgap31 A G 16: 38,603,001 V901A probably damaging Het
C3 A G 17: 57,220,206 probably benign Het
Chd7 T C 4: 8,839,454 V1330A probably damaging Het
Dopey1 A G 9: 86,522,806 T255A possibly damaging Het
Pamr1 A C 2: 102,586,621 S93R possibly damaging Het
Tacc3 A G 5: 33,669,640 Y531C probably damaging Het
Tcerg1 A G 18: 42,568,453 E860G possibly damaging Het
Tmco4 T A 4: 138,996,574 probably null Het
Zfyve16 A G 13: 92,524,253 L16P probably damaging Het
Other mutations in Eef1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02098:Eef1a2 APN 2 181152789 missense probably benign
IGL02717:Eef1a2 APN 2 181152901 missense probably benign
IGL03264:Eef1a2 APN 2 181148734 missense possibly damaging 0.89
IGL03308:Eef1a2 APN 2 181148836 splice site probably benign
R1680:Eef1a2 UTSW 2 181152941 missense possibly damaging 0.84
R2140:Eef1a2 UTSW 2 181148742 missense probably benign 0.03
R3877:Eef1a2 UTSW 2 181152833 missense probably damaging 0.99
R4706:Eef1a2 UTSW 2 181155357 missense probably damaging 0.96
R4902:Eef1a2 UTSW 2 181148088 missense probably benign 0.02
R5846:Eef1a2 UTSW 2 181152983 missense probably damaging 1.00
R6250:Eef1a2 UTSW 2 181151060 missense possibly damaging 0.70
R6864:Eef1a2 UTSW 2 181149684 missense probably benign 0.00
R6991:Eef1a2 UTSW 2 181148628 missense possibly damaging 0.70
X0027:Eef1a2 UTSW 2 181151036 missense probably benign 0.38
Posted On2012-12-06