Incidental Mutation 'R4577:Eef2'
ID 342566
Institutional Source Beutler Lab
Gene Symbol Eef2
Ensembl Gene ENSMUSG00000034994
Gene Name eukaryotic translation elongation factor 2
Synonyms Ef-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R4577 (G1)
Quality Score 154
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: 97.0%
  • 20x: 94.5%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A C 4: 144,430,323 (GRCm39) I222S probably damaging Het
Abca1 C A 4: 53,062,568 (GRCm39) C1429F possibly damaging Het
Acacb A G 5: 114,364,892 (GRCm39) E1524G probably damaging Het
Ankrd50 A G 3: 38,510,090 (GRCm39) V759A probably damaging Het
Ano9 T C 7: 140,684,051 (GRCm39) Q538R probably damaging Het
Bnip2 A G 9: 69,904,444 (GRCm39) D67G probably benign Het
Cacna1e A T 1: 154,277,773 (GRCm39) S2060T possibly damaging Het
Cand2 G A 6: 115,768,220 (GRCm39) C455Y probably damaging Het
Cdh16 T C 8: 105,345,191 (GRCm39) D366G probably damaging Het
Cep170b A G 12: 112,711,152 (GRCm39) R595G probably damaging Het
Chaf1a G A 17: 56,372,184 (GRCm39) R784Q probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Clca4a C A 3: 144,660,730 (GRCm39) S698I probably damaging Het
Dnah5 A C 15: 28,289,396 (GRCm39) Y1195S probably benign Het
Dynlt4 A G 4: 116,985,812 (GRCm39) T212A possibly damaging Het
Dysf T C 6: 84,114,308 (GRCm39) I1229T probably damaging Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
F3 A G 3: 121,527,763 (GRCm39) I254V probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Fsd1l T C 4: 53,686,397 (GRCm39) F270S probably damaging Het
Galnt3 T C 2: 65,928,203 (GRCm39) Y231C probably benign Het
Gm10220 A C 5: 26,322,869 (GRCm39) I181S probably benign Het
Gnb5 G A 9: 75,250,823 (GRCm39) V316I possibly damaging Het
Gys2 A G 6: 142,400,236 (GRCm39) F325S possibly damaging Het
Hmgn2 G A 4: 133,694,668 (GRCm39) probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Iqub A T 6: 24,501,290 (GRCm39) I220N probably damaging Het
Jmjd1c A G 10: 67,085,529 (GRCm39) T2259A probably damaging Het
Kcnq3 T C 15: 66,158,063 (GRCm39) K4R unknown Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
L3mbtl2 G A 15: 81,570,486 (GRCm39) E655K probably benign Het
Lrp1b C T 2: 40,711,731 (GRCm39) C3163Y probably damaging Het
Map3k19 T A 1: 127,750,550 (GRCm39) R934* probably null Het
Map4 A G 9: 109,910,489 (GRCm39) T1061A possibly damaging Het
Mbnl1 G A 3: 60,437,199 (GRCm39) V50I probably damaging Het
Med15 G A 16: 17,492,379 (GRCm39) Q132* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mtmr3 G C 11: 4,447,375 (GRCm39) L361V probably damaging Het
Myo5a A G 9: 75,124,827 (GRCm39) E1792G probably damaging Het
Nup88 C A 11: 70,860,543 (GRCm39) A55S probably damaging Het
Or1ab2 T A 8: 72,864,167 (GRCm39) Y252* probably null Het
Or4a79 T C 2: 89,552,387 (GRCm39) K23E possibly damaging Het
Pacs1 G T 19: 5,193,861 (GRCm39) S556* probably null Het
Parp4 A G 14: 56,827,867 (GRCm39) E206G probably benign Het
Paxbp1 T G 16: 90,812,042 (GRCm39) K889N probably damaging Het
Pcdhga2 G A 18: 37,802,302 (GRCm39) A49T possibly damaging Het
Pcsk6 T A 7: 65,609,014 (GRCm39) L292* probably null Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Plec C A 15: 76,068,269 (GRCm39) Q1142H possibly damaging Het
Pnpla2 T C 7: 141,037,257 (GRCm39) S87P probably damaging Het
Prss28 T C 17: 25,529,079 (GRCm39) V140A probably damaging Het
Rad17 A T 13: 100,769,786 (GRCm39) S258T probably damaging Het
Rnf111 A T 9: 70,336,866 (GRCm39) C932* probably null Het
Sdc2 T C 15: 33,017,278 (GRCm39) Y31H probably damaging Het
Selenoh T C 2: 84,500,675 (GRCm39) E55G possibly damaging Het
Serpina3k T G 12: 104,310,451 (GRCm39) V327G possibly damaging Het
Setd1b A G 5: 123,286,679 (GRCm39) E575G unknown Het
Slco1a4 A T 6: 141,765,266 (GRCm39) S325R probably damaging Het
Smtnl1 C A 2: 84,648,787 (GRCm39) V156L possibly damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Speg A G 1: 75,392,039 (GRCm39) D1607G probably damaging Het
Tmem101 T A 11: 102,046,663 (GRCm39) M69L possibly damaging Het
Treh G A 9: 44,597,208 (GRCm39) M542I probably benign Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Ttc6 T C 12: 57,623,441 (GRCm39) I280T probably benign Het
Ubtfl1 A G 9: 18,320,789 (GRCm39) T106A probably damaging Het
Wdr27 T C 17: 15,123,724 (GRCm39) H583R probably benign Het
Xirp2 C T 2: 67,344,241 (GRCm39) P2161S probably 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
R5154: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'- GGAGAGTGCTTGTGTACATTTCAC -3'
(R):5'- TTCCGTCATCATGGTGGGTC -3'

Sequencing Primer
(F):5'- CAAAACATACGTGGTCTTCAGG -3'
(R):5'- CATCATGGTGGGTCAGAGATTCCC -3'
Posted On 2015-09-24