Incidental Mutation 'R5154:Eef2'
ID 396589
Institutional Source Beutler Lab
Gene Symbol Eef2
Ensembl Gene ENSMUSG00000034994
Gene Name eukaryotic translation elongation factor 2
Synonyms Ef-2
MMRRC Submission 042736-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R5154 (G1)
Quality Score 173
Status Not validated
Chromosome 10
Chromosomal Location 81012465-81018332 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCCC to GCCCC at 81014601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047665] [ENSMUST00000047864] [ENSMUST00000056086] [ENSMUST00000178422] [ENSMUST00000218157] [ENSMUST00000219133]
AlphaFold P58252
Predicted Effect probably benign
Transcript: ENSMUST00000047665
SMART Domains Protein: ENSMUSP00000035962
Gene: ENSMUSG00000034974

DomainStartEndE-ValueType
S_TKc 13 275 1.93e-98 SMART
low complexity region 288 299 N/A INTRINSIC
low complexity region 331 347 N/A INTRINSIC
low complexity region 349 411 N/A INTRINSIC
coiled coil region 419 444 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000047864
SMART Domains Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994

DomainStartEndE-ValueType
Pfam:GTP_EFTU 17 360 2e-65 PFAM
Pfam:MMR_HSR1 21 159 6.3e-6 PFAM
Pfam:GTP_EFTU_D2 409 486 2.3e-14 PFAM
Pfam:EFG_II 501 568 1.9e-14 PFAM
EFG_IV 621 737 5.56e-27 SMART
EFG_C 739 828 4.06e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000056086
SMART Domains Protein: ENSMUSP00000049685
Gene: ENSMUSG00000053603

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082507
Predicted Effect probably benign
Transcript: ENSMUST00000178422
SMART Domains Protein: ENSMUSP00000137333
Gene: ENSMUSG00000034974

DomainStartEndE-ValueType
S_TKc 13 275 1.93e-98 SMART
low complexity region 288 299 N/A INTRINSIC
low complexity region 331 347 N/A INTRINSIC
low complexity region 349 411 N/A INTRINSIC
coiled coil region 419 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219329
Predicted Effect probably benign
Transcript: ENSMUST00000218157
Predicted Effect probably benign
Transcript: ENSMUST00000219133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219943
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation removing the diphthamide modification display partial neonatal lethality, fetal growth retardation and abnormal cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,938 (GRCm39) H48P probably damaging Het
Angptl7 C T 4: 148,581,882 (GRCm39) R168H probably damaging Het
Ankrd11 A C 8: 123,619,878 (GRCm39) F1325V probably damaging Het
Ankrd13c A G 3: 157,694,297 (GRCm39) D266G possibly damaging Het
Apold1 A T 6: 134,960,636 (GRCm39) H30L possibly damaging Het
Arel1 A G 12: 84,978,547 (GRCm39) F362L probably benign Het
Arhgef4 T A 1: 34,771,455 (GRCm39) M1254K probably benign Het
Arid2 T A 15: 96,299,866 (GRCm39) V1793E probably damaging Het
Bcl7a T C 5: 123,507,422 (GRCm39) S156P probably damaging Het
Cbr3 A G 16: 93,482,027 (GRCm39) I128V probably benign Het
Cct6b G A 11: 82,630,521 (GRCm39) P299L probably damaging Het
Cd180 A T 13: 102,842,282 (GRCm39) N443Y probably damaging Het
Cd80 A G 16: 38,294,342 (GRCm39) K75R probably benign Het
Cdk1 A T 10: 69,176,298 (GRCm39) probably benign Het
Cep192 T A 18: 67,983,755 (GRCm39) F1565I probably damaging Het
Chtf18 T C 17: 25,942,694 (GRCm39) T412A probably damaging Het
Cit T C 5: 116,126,464 (GRCm39) L1590P probably damaging Het
Clcn2 T A 16: 20,522,053 (GRCm39) R845S probably benign Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Cnnm2 A T 19: 46,751,571 (GRCm39) R454W probably benign Het
Cpne8 T G 15: 90,384,121 (GRCm39) I480L probably benign Het
Cr2 A G 1: 194,841,754 (GRCm39) W400R probably damaging Het
Cul5 A G 9: 53,537,167 (GRCm39) L528P probably damaging Het
Dlgap5 C T 14: 47,651,177 (GRCm39) V119M probably damaging Het
Dnah12 T C 14: 26,571,320 (GRCm39) S190P probably benign Het
Dnah3 T A 7: 119,551,642 (GRCm39) K2881N probably damaging Het
Dnmt3a A T 12: 3,946,008 (GRCm39) I288F probably damaging Het
Dse T A 10: 34,029,657 (GRCm39) T478S possibly damaging Het
Edn1 C T 13: 42,458,499 (GRCm39) T104I probably benign Het
Eprs1 A G 1: 185,145,662 (GRCm39) H1157R probably damaging Het
Fam168b G A 1: 34,857,180 (GRCm39) T179I possibly damaging Het
Fzd5 A G 1: 64,775,131 (GRCm39) V210A probably benign Het
Gm9742 T C 13: 8,085,081 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Gpr141 C T 13: 19,936,412 (GRCm39) R121K probably benign Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Grk3 A T 5: 113,089,583 (GRCm39) I281N probably damaging Het
Hnrnpdl A T 5: 100,184,371 (GRCm39) Y289* probably null Het
Hsf2 T G 10: 57,380,808 (GRCm39) V214G probably benign Het
Igf2bp1 G A 11: 95,854,373 (GRCm39) Q563* probably null Het
Il31ra T A 13: 112,660,531 (GRCm39) D605V possibly damaging Het
Insm2 G A 12: 55,646,982 (GRCm39) C242Y probably damaging Het
Ints3 C T 3: 90,322,868 (GRCm39) V121I probably benign Het
Kcnt2 A T 1: 140,278,994 (GRCm39) L48F possibly damaging Het
Kit G A 5: 75,801,200 (GRCm39) V529M probably damaging Het
Mark2 G A 19: 7,260,439 (GRCm39) P13S probably damaging Het
Mthfsd A G 8: 121,825,479 (GRCm39) V364A probably damaging Het
Mtmr11 C G 3: 96,071,636 (GRCm39) S185R probably benign Het
Myot A G 18: 44,487,281 (GRCm39) I373V probably benign Het
N4bp3 A T 11: 51,536,139 (GRCm39) V231D probably benign Het
Or5t17 T C 2: 86,832,382 (GRCm39) V23A probably benign Het
Or8k39 A T 2: 86,563,121 (GRCm39) Y278* probably null Het
Pdcd6ip A G 9: 113,520,610 (GRCm39) F125L probably damaging Het
Prpf39 A T 12: 65,095,051 (GRCm39) Q124L probably benign Het
Reln A T 5: 22,193,763 (GRCm39) N1398K probably damaging Het
Rhod A T 19: 4,482,122 (GRCm39) D97E probably damaging Het
Rxra T C 2: 27,647,880 (GRCm39) probably null Het
Slc1a3 T C 15: 8,672,433 (GRCm39) I349V probably benign Het
Slc37a2 A T 9: 37,142,939 (GRCm39) *502R probably null Het
Slc9b1 T C 3: 135,078,940 (GRCm39) I199T probably damaging Het
Spart C T 3: 55,024,750 (GRCm39) P115L probably damaging Het
Tnpo1 A T 13: 99,006,813 (GRCm39) C205S possibly damaging Het
Tubb1 T A 2: 174,298,657 (GRCm39) I113N probably benign Het
Tyrp1 G A 4: 80,768,954 (GRCm39) V483I probably benign Het
Vwde T C 6: 13,215,757 (GRCm39) S100G probably benign Het
Zfhx3 A T 8: 109,527,207 (GRCm39) I1035F probably damaging Het
Zfp618 G T 4: 63,051,446 (GRCm39) K742N probably damaging Het
Zfp873 T C 10: 81,896,025 (GRCm39) V252A possibly damaging Het
Other mutations in Eef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Eef2 APN 10 81,017,816 (GRCm39) splice site probably null
IGL01303:Eef2 APN 10 81,017,777 (GRCm39) missense possibly damaging 0.93
IGL01376:Eef2 APN 10 81,013,883 (GRCm39) unclassified probably benign
IGL01876:Eef2 APN 10 81,016,104 (GRCm39) missense probably benign
IGL02000:Eef2 APN 10 81,015,845 (GRCm39) missense probably benign 0.13
IGL02514:Eef2 APN 10 81,015,427 (GRCm39) missense probably benign 0.11
IGL03087:Eef2 APN 10 81,017,081 (GRCm39) missense probably benign 0.12
IGL03389:Eef2 APN 10 81,015,540 (GRCm39) missense probably benign 0.40
fig UTSW 10 81,016,126 (GRCm39) missense possibly damaging 0.50
R0052:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R0178:Eef2 UTSW 10 81,016,126 (GRCm39) missense possibly damaging 0.50
R0445:Eef2 UTSW 10 81,014,604 (GRCm39) frame shift probably null
R0497:Eef2 UTSW 10 81,017,420 (GRCm39) missense probably benign 0.00
R0539:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R0745:Eef2 UTSW 10 81,017,830 (GRCm39) missense probably benign 0.00
R0811:Eef2 UTSW 10 81,014,603 (GRCm39) frame shift probably null
R0812:Eef2 UTSW 10 81,014,603 (GRCm39) frame shift probably null
R0832:Eef2 UTSW 10 81,014,603 (GRCm39) frame shift probably null
R1136:Eef2 UTSW 10 81,014,603 (GRCm39) frame shift probably null
R1298:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R1549:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R1550:Eef2 UTSW 10 81,016,681 (GRCm39) missense probably benign 0.04
R2869:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R2870:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R2871:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R2872:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R3408:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R3414:Eef2 UTSW 10 81,013,692 (GRCm39) missense probably damaging 0.98
R4291:Eef2 UTSW 10 81,015,414 (GRCm39) missense probably benign 0.00
R4357:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R4433:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R4577:Eef2 UTSW 10 81,014,601 (GRCm39) frame shift probably null
R5609:Eef2 UTSW 10 81,014,603 (GRCm39) frame shift probably null
R6545:Eef2 UTSW 10 81,016,948 (GRCm39) missense probably damaging 1.00
R6649:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R6650:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R7326:Eef2 UTSW 10 81,017,116 (GRCm39) missense probably benign 0.26
R7472:Eef2 UTSW 10 81,015,384 (GRCm39) missense probably benign 0.01
R7579:Eef2 UTSW 10 81,014,602 (GRCm39) frame shift probably null
R8013:Eef2 UTSW 10 81,014,030 (GRCm39) missense probably damaging 1.00
R8143:Eef2 UTSW 10 81,017,182 (GRCm39) missense probably damaging 1.00
R8783:Eef2 UTSW 10 81,015,499 (GRCm39) missense probably damaging 1.00
R8949:Eef2 UTSW 10 81,014,518 (GRCm39) missense probably damaging 1.00
R9017:Eef2 UTSW 10 81,015,487 (GRCm39) missense possibly damaging 0.66
R9115:Eef2 UTSW 10 81,014,603 (GRCm39) frame shift probably null
R9158:Eef2 UTSW 10 81,014,693 (GRCm39) unclassified probably benign
R9233:Eef2 UTSW 10 81,014,668 (GRCm39) missense probably benign 0.26
R9435:Eef2 UTSW 10 81,014,994 (GRCm39) missense probably benign 0.07
R9765:Eef2 UTSW 10 81,015,010 (GRCm39) missense possibly damaging 0.84
Z1088:Eef2 UTSW 10 81,017,723 (GRCm39) missense probably damaging 1.00
Z1176:Eef2 UTSW 10 81,016,992 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAGAGTGCTTGTGTACATTTCACAG -3'
(R):5'- TTCCGTCATCATGGTGGGTC -3'

Sequencing Primer
(F):5'- CAAAACATACGTGGTCTTCAGG -3'
(R):5'- CATCATGGTGGGTCAGAGATTCCC -3'
Posted On 2016-06-21