Incidental Mutation 'R6112:Eef1g'
ID 484929
Institutional Source Beutler Lab
Gene Symbol Eef1g
Ensembl Gene ENSMUSG00000071644
Gene Name eukaryotic translation elongation factor 1 gamma
Synonyms 2610301D06Rik, EF1G
MMRRC Submission 044261-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R6112 (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 C at 8954955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 346 (F346S)
Ref Sequence ENSEMBL: ENSMUSP00000093955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052248]
AlphaFold Q9D8N0
Predicted Effect probably damaging
Transcript: ENSMUST00000052248
AA Change: F346S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644
AA Change: F346S

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: ENSMUST00000128626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135025
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,278,780 (GRCm39) Y1030C probably damaging Het
Adh5 G T 3: 138,157,029 (GRCm39) V197F probably damaging Het
Ankmy1 A T 1: 92,798,684 (GRCm39) F936I probably damaging Het
Aoc1 A T 6: 48,885,625 (GRCm39) D710V probably damaging Het
Aplp1 T C 7: 30,134,902 (GRCm39) E622G probably damaging Het
Arhgap20 T C 9: 51,740,684 (GRCm39) Y219H probably damaging Het
Bag3 A G 7: 128,143,556 (GRCm39) D184G probably damaging Het
Cacna1g C T 11: 94,300,072 (GRCm39) A2216T probably damaging Het
Cbarp T C 10: 79,971,205 (GRCm39) probably null Het
Cep250 C A 2: 155,836,503 (GRCm39) L2211I possibly damaging Het
Cfap65 A G 1: 74,942,298 (GRCm39) I1752T probably benign Het
Col4a4 A G 1: 82,431,604 (GRCm39) V1560A unknown Het
Dapk3 A T 10: 81,019,864 (GRCm39) Q6L probably benign Het
Dctn5 A G 7: 121,732,460 (GRCm39) probably benign Het
Eef1akmt1 A T 14: 57,787,330 (GRCm39) I182N possibly damaging Het
Erap1 G T 13: 74,794,398 (GRCm39) W19L probably benign Het
Gm10801 A G 2: 98,494,409 (GRCm39) H162R probably benign Het
Gpm6a G A 8: 55,507,845 (GRCm39) A194T probably benign Het
Grip1 C A 10: 119,829,137 (GRCm39) N32K probably benign Het
Hmcn1 A G 1: 150,494,687 (GRCm39) I4134T probably damaging Het
Hspa14 G A 2: 3,499,105 (GRCm39) H230Y probably benign Het
Ift172 T C 5: 31,414,241 (GRCm39) T1435A probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Lcor T C 19: 41,547,520 (GRCm39) V368A possibly damaging Het
Lmna C A 3: 88,393,928 (GRCm39) E217* probably null Het
Lrp1b C T 2: 41,231,894 (GRCm39) G337E probably benign Het
Maf1 A G 15: 76,236,312 (GRCm39) probably benign Het
Magi1 T C 6: 93,722,571 (GRCm39) I436V probably damaging Het
Muc4 C T 16: 32,596,157 (GRCm39) T3123I possibly damaging Het
Muc5b T A 7: 141,417,042 (GRCm39) H3329Q probably benign Het
Noa1 C T 5: 77,457,593 (GRCm39) R104Q probably benign Het
Odc1 T G 12: 17,599,473 (GRCm39) S267A probably benign Het
Or5p60 T A 7: 107,724,369 (GRCm39) I34F probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Pamr1 T C 2: 102,441,953 (GRCm39) Y181H probably damaging Het
Pcdhga2 T A 18: 37,802,612 (GRCm39) I152N probably damaging Het
Pigt C T 2: 164,348,365 (GRCm39) Q437* probably null Het
Prx T C 7: 27,215,973 (GRCm39) L158P probably damaging Het
Ptprh T A 7: 4,600,922 (GRCm39) T152S probably benign Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rad51ap2 T C 12: 11,507,290 (GRCm39) I404T probably benign Het
Radil C T 5: 142,529,399 (GRCm39) R99H probably damaging Het
Rc3h2 C T 2: 37,268,899 (GRCm39) V856I possibly damaging Het
Slx4ip T A 2: 136,888,664 (GRCm39) V115E probably damaging Het
Snx3 C A 10: 42,402,042 (GRCm39) S85R probably benign Het
Sppl2c A T 11: 104,077,963 (GRCm39) E254D probably benign Het
Srms C A 2: 180,849,780 (GRCm39) E237* probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Trank1 T C 9: 111,220,805 (GRCm39) L2514P probably damaging Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Usp4 A G 9: 108,233,703 (GRCm39) Y108C probably damaging Het
Vmn2r60 A T 7: 41,844,847 (GRCm39) I737F probably damaging Het
Zfp600 A T 4: 146,131,701 (GRCm39) H123L probably benign Het
Zfp646 G T 7: 127,478,190 (GRCm39) R122S possibly damaging Het
Znfx1 A G 2: 166,880,126 (GRCm39) Y553H 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
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'- TAAAGATGGCTGGTCCCTGTG -3'
(R):5'- CCAGGATTCCCACTGATTTGAGC -3'

Sequencing Primer
(F):5'- TCCCTGTGGTATGCCGAGTAC -3'
(R):5'- GCCATGGCTCAAGACTCCTAG -3'
Posted On 2017-08-16