Incidental Mutation 'R7725:Eef1g'
ID 595469
Institutional Source Beutler Lab
Gene Symbol Eef1g
Ensembl Gene ENSMUSG00000071644
Gene Name eukaryotic translation elongation factor 1 gamma
Synonyms 2610301D06Rik, EF1G
MMRRC Submission 045781-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7725 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 8944405-8955544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8955427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 425 (H425Q)
Ref Sequence ENSEMBL: ENSMUSP00000093955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052248]
AlphaFold Q9D8N0
Predicted Effect probably benign
Transcript: ENSMUST00000052248
AA Change: H425Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644
AA Change: H425Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (41/41)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 A T 9: 69,387,410 (GRCm39) K6N unknown Het
Arhgap20 T A 9: 51,743,050 (GRCm39) M296K possibly damaging Het
Bdh1 G A 16: 31,256,910 (GRCm39) V20I not run Het
Bop1 A G 15: 76,339,583 (GRCm39) I254T probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cct4 A G 11: 22,940,814 (GRCm39) K21E probably benign Het
Cercam G A 2: 29,762,574 (GRCm39) probably null Het
Clip2 A T 5: 134,546,853 (GRCm39) Y238* probably null Het
Col19a1 A T 1: 24,309,525 (GRCm39) S1043T possibly damaging Het
Ctcf A G 8: 106,390,468 (GRCm39) Y25C probably damaging Het
Dennd4c C T 4: 86,704,330 (GRCm39) R282C probably benign Het
Fam131b C T 6: 42,295,476 (GRCm39) A234T probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam187b A G 7: 30,677,139 (GRCm39) D216G possibly damaging Het
Gabra1 A T 11: 42,026,270 (GRCm39) Y341N possibly damaging Het
Glb1l3 T A 9: 26,739,659 (GRCm39) probably null Het
Gm3667 T A 14: 18,271,599 (GRCm39) Q52L probably damaging Het
Gpr179 C T 11: 97,242,118 (GRCm39) R242H probably damaging Het
Gulo T C 14: 66,245,522 (GRCm39) Y24C probably damaging Het
Hectd4 A T 5: 121,358,680 (GRCm39) E49V unknown Het
Htra4 A G 8: 25,527,169 (GRCm39) S209P possibly damaging Het
Lmntd1 A G 6: 145,489,196 (GRCm39) S22P probably benign Het
Lypd8l A T 11: 58,499,325 (GRCm39) N164K probably benign Het
Med12l A G 3: 59,163,413 (GRCm39) K1347E probably damaging Het
Mrc1 C A 2: 14,284,788 (GRCm39) D592E probably benign Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Ncor2 A G 5: 125,100,630 (GRCm39) V1316A Het
Odad1 T A 7: 45,597,835 (GRCm39) S582T probably damaging Het
Or2t43 A G 11: 58,457,593 (GRCm39) Y193H probably damaging Het
Or2y10 A T 11: 49,455,359 (GRCm39) I204L probably benign Het
Or5t16 T C 2: 86,819,323 (GRCm39) I66V probably benign Het
Serpina6 A T 12: 103,614,936 (GRCm39) Y303* probably null Het
Shld2 T G 14: 33,990,661 (GRCm39) T82P possibly damaging Het
Shroom3 T C 5: 93,089,512 (GRCm39) L754P probably benign Het
Skint5 C A 4: 113,685,099 (GRCm39) L539F unknown Het
St3gal4 C A 9: 34,964,375 (GRCm39) R209L possibly damaging Het
Tex14 A C 11: 87,385,868 (GRCm39) T243P probably damaging Het
Ttc12 T A 9: 49,351,602 (GRCm39) M632L probably benign Het
Ttn T C 2: 76,738,116 (GRCm39) E4187G unknown Het
Txk G A 5: 72,864,900 (GRCm39) A379V probably damaging Het
Wdr43 A G 17: 71,923,338 (GRCm39) Y28C probably benign Het
Zfp1005 A G 2: 150,110,468 (GRCm39) Y386C unknown Het
Zfp40 A G 17: 23,397,251 (GRCm39) V82A probably benign Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Other mutations in Eef1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0577:Eef1g UTSW 19 8,950,406 (GRCm39) missense probably benign 0.02
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
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

Sequencing Primer
Posted On 2019-11-12