Incidental Mutation 'R0577:Eef1g'
ID 56280
Institutional Source Beutler Lab
Gene Symbol Eef1g
Ensembl Gene ENSMUSG00000071644
Gene Name eukaryotic translation elongation factor 1 gamma
Synonyms 2610301D06Rik, EF1G
MMRRC Submission 038767-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R0577 (G1)
Quality Score 199
Status Validated
Chromosome 19
Chromosomal Location 8944405-8955544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8950406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 264 (D264G)
Ref Sequence ENSEMBL: ENSMUSP00000093955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052248]
AlphaFold Q9D8N0
Predicted Effect probably benign
Transcript: ENSMUST00000052248
AA Change: D264G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644
AA Change: D264G

DomainStartEndE-ValueType
Pfam:GST_N 2 81 1.5e-25 PFAM
Pfam:GST_N_3 6 83 1.4e-8 PFAM
Pfam:GST_C_3 88 194 8.3e-13 PFAM
Pfam:GST_C 106 198 4.5e-22 PFAM
Pfam:GST_C_2 125 191 8.6e-12 PFAM
low complexity region 238 262 N/A INTRINSIC
EF1G 275 381 3.63e-78 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152076
Meta Mutation Damage Score 0.1742 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,910 (GRCm39) H336Q probably benign Het
Abcc2 A T 19: 43,807,840 (GRCm39) D827V probably damaging Het
Asph G T 4: 9,604,620 (GRCm39) A139E probably benign Het
Bag3 T C 7: 128,125,611 (GRCm39) M10T probably benign Het
Bod1l T C 5: 41,952,230 (GRCm39) D2894G probably damaging Het
Cdk12 T C 11: 98,094,332 (GRCm39) S47P probably damaging Het
Dchs1 C T 7: 105,413,462 (GRCm39) V1118I possibly damaging Het
Ddi2 A T 4: 141,411,818 (GRCm39) C365S possibly damaging Het
Fbxw17 T C 13: 50,585,619 (GRCm39) L274P probably benign Het
Gpc6 A G 14: 117,673,420 (GRCm39) T226A probably benign Het
Klf12 T A 14: 100,260,585 (GRCm39) Y48F probably damaging Het
Klhdc4 C T 8: 122,548,090 (GRCm39) A67T probably damaging Het
Macir C T 1: 97,589,551 (GRCm39) probably null Het
Madd C T 2: 90,968,740 (GRCm39) E1596K possibly damaging Het
Mov10l1 A G 15: 88,889,930 (GRCm39) Y533C probably damaging Het
Mtif2 G T 11: 29,490,862 (GRCm39) probably null Het
Mtmr6 G A 14: 60,534,087 (GRCm39) V442I possibly damaging Het
Or4k15b C T 14: 50,272,249 (GRCm39) G204R probably damaging Het
Or5ac23 A T 16: 59,149,061 (GRCm39) D270E probably benign Het
Or9i16 T C 19: 13,865,167 (GRCm39) T136A probably damaging Het
Pdcd11 A G 19: 47,087,271 (GRCm39) N277S probably benign Het
Pias2 A T 18: 77,184,977 (GRCm39) L12F probably damaging Het
Potefam1 G T 2: 111,024,694 (GRCm39) Q57K probably benign Het
Rnf213 G T 11: 119,334,106 (GRCm39) R3105L probably damaging Het
Rps11 A G 7: 44,772,274 (GRCm39) V111A probably benign Het
Rrs1 C A 1: 9,616,026 (GRCm39) probably null Het
Thsd7a T C 6: 12,321,047 (GRCm39) T1543A possibly damaging Het
Vmn2r86 C A 10: 130,288,444 (GRCm39) R352S probably benign Het
Zfp141 T C 7: 42,125,938 (GRCm39) N178S probably benign Het
Zfp955a A T 17: 33,461,068 (GRCm39) F355I probably damaging Het
Other mutations in Eef1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1871:Eef1g UTSW 19 8,955,330 (GRCm39) missense possibly damaging 0.80
R3946:Eef1g UTSW 19 8,947,341 (GRCm39) missense probably benign 0.23
R4698:Eef1g UTSW 19 8,955,330 (GRCm39) missense possibly damaging 0.70
R6112:Eef1g UTSW 19 8,954,955 (GRCm39) missense probably damaging 1.00
R6672:Eef1g UTSW 19 8,944,411 (GRCm39) splice site probably null
R6944:Eef1g UTSW 19 8,945,656 (GRCm39) missense probably benign
R7665:Eef1g UTSW 19 8,945,653 (GRCm39) missense probably benign 0.19
R7725:Eef1g UTSW 19 8,955,427 (GRCm39) missense probably benign 0.00
R7836:Eef1g UTSW 19 8,954,738 (GRCm39) missense probably benign 0.10
R9139:Eef1g UTSW 19 8,955,383 (GRCm39) missense probably benign
R9613:Eef1g UTSW 19 8,955,018 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCAACCCTTTGACTTGCATAGCC -3'
(R):5'- AACCTGGACACATGAGACCTGGAC -3'

Sequencing Primer
(F):5'- TTGTTCACCCAGAGAACGTG -3'
(R):5'- ggacacatgagacctggACTATAC -3'
Posted On 2013-07-11