Incidental Mutation 'IGL03389:Eef2'
ID421000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eef2
Ensembl Gene ENSMUSG00000034994
Gene Nameeukaryotic translation elongation factor 2
SynonymsEf-2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL03389
Quality Score
Status
Chromosome10
Chromosomal Location81176631-81182498 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81179706 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 354 (I354V)
Ref Sequence ENSEMBL: ENSMUSP00000046101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047665] [ENSMUST00000047864] [ENSMUST00000056086] [ENSMUST00000178422] [ENSMUST00000218157] [ENSMUST00000219133] [ENSMUST00000219850]
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 benign
Transcript: ENSMUST00000047864
AA Change: I354V

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
AA Change: I354V

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 probably benign
Transcript: ENSMUST00000218157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218698
Predicted Effect probably benign
Transcript: ENSMUST00000219133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219497
Predicted Effect probably benign
Transcript: ENSMUST00000219850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220076
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,210,349 V559E possibly damaging Het
Alpk2 G T 18: 65,304,866 P1619Q possibly damaging Het
Amz1 C A 5: 140,752,027 F347L probably benign Het
Ank1 T C 8: 23,088,060 probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Cdc16 A G 8: 13,759,179 Y48C probably damaging Het
Cul2 A G 18: 3,431,029 D538G probably benign Het
Cyp2j13 T A 4: 96,068,321 I184F probably damaging Het
Cyp4a12b A T 4: 115,433,808 R344S possibly damaging Het
Dis3 A G 14: 99,095,347 probably benign Het
Dnah17 T C 11: 118,094,979 H1424R probably damaging Het
Elmo1 A G 13: 20,342,426 D382G probably damaging Het
Epas1 T A 17: 86,823,703 S304T probably benign Het
Fry A T 5: 150,394,231 D892V probably damaging Het
Gprc5a G T 6: 135,083,825 D355Y possibly damaging Het
Hsd17b7 G A 1: 169,959,751 T228I probably damaging Het
Ift74 T C 4: 94,621,912 V60A possibly damaging Het
Insrr A T 3: 87,808,731 I578F probably damaging Het
Izumo1 T C 7: 45,624,189 F122S probably damaging Het
Lss G A 10: 76,536,339 R176H probably damaging Het
Ltb T C 17: 35,195,068 S61P probably benign Het
Maats1 C T 16: 38,324,136 probably null Het
Mybphl T C 3: 108,375,718 V274A probably benign Het
Myo9a T G 9: 59,869,607 L1096W probably damaging Het
Nlrc5 T A 8: 94,521,474 L1690H probably damaging Het
Nrap A T 19: 56,351,716 S790T probably benign Het
Nrcam A G 12: 44,549,906 D308G probably benign Het
Olfr346 A G 2: 36,688,262 T87A probably benign Het
Olfr518 G A 7: 108,880,775 T277M probably damaging Het
Pias2 A G 18: 77,097,658 D138G probably damaging Het
Prpf4b T C 13: 34,900,456 probably benign Het
Rapgef3 A G 15: 97,749,516 S788P probably damaging Het
Slc5a6 T C 5: 31,037,477 Y525C probably damaging Het
Snx32 T C 19: 5,496,054 probably benign Het
Tnfaip3 T C 10: 19,004,987 E444G probably benign Het
Ttc27 T C 17: 74,858,033 Y745H probably benign Het
Other mutations in Eef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Eef2 APN 10 81181943 missense possibly damaging 0.93
IGL01303:Eef2 APN 10 81181982 unclassified probably null
IGL01376:Eef2 APN 10 81178049 unclassified probably benign
IGL01876:Eef2 APN 10 81180270 missense probably benign
IGL02000:Eef2 APN 10 81180011 missense probably benign 0.13
IGL02514:Eef2 APN 10 81179593 missense probably benign 0.11
IGL03087:Eef2 APN 10 81181247 missense probably benign 0.12
fig UTSW 10 81180292 missense possibly damaging 0.50
R0052:Eef2 UTSW 10 81178768 frame shift probably null
R0178:Eef2 UTSW 10 81180292 missense possibly damaging 0.50
R0445:Eef2 UTSW 10 81178770 frame shift probably null
R0497:Eef2 UTSW 10 81181586 missense probably benign 0.00
R0539:Eef2 UTSW 10 81178768 frame shift probably null
R0745:Eef2 UTSW 10 81181996 missense probably benign 0.00
R0811:Eef2 UTSW 10 81178769 frame shift probably null
R0812:Eef2 UTSW 10 81178769 frame shift probably null
R0832:Eef2 UTSW 10 81178769 frame shift probably null
R1136:Eef2 UTSW 10 81178769 frame shift probably null
R1298:Eef2 UTSW 10 81178768 frame shift probably null
R1549:Eef2 UTSW 10 81178768 frame shift probably null
R1550:Eef2 UTSW 10 81180847 missense probably benign 0.04
R2869:Eef2 UTSW 10 81178767 frame shift probably null
R2870:Eef2 UTSW 10 81178767 frame shift probably null
R2871:Eef2 UTSW 10 81178767 frame shift probably null
R2872:Eef2 UTSW 10 81178767 frame shift probably null
R3408:Eef2 UTSW 10 81178767 frame shift probably null
R3414:Eef2 UTSW 10 81177858 missense probably damaging 0.98
R4291:Eef2 UTSW 10 81179580 missense probably benign 0.00
R4357:Eef2 UTSW 10 81178767 frame shift probably null
R4433:Eef2 UTSW 10 81178768 frame shift probably null
R4577:Eef2 UTSW 10 81178767 frame shift probably null
R5154:Eef2 UTSW 10 81178767 frame shift probably null
R5609:Eef2 UTSW 10 81178769 frame shift probably null
R6545:Eef2 UTSW 10 81181114 missense probably damaging 1.00
R6649:Eef2 UTSW 10 81178768 frame shift probably null
R6650:Eef2 UTSW 10 81178768 frame shift probably null
R7326:Eef2 UTSW 10 81181282 missense probably benign 0.26
R7472:Eef2 UTSW 10 81179550 missense probably benign 0.01
R7579:Eef2 UTSW 10 81178768 frame shift probably null
R8013:Eef2 UTSW 10 81178196 missense probably damaging 1.00
Z1088:Eef2 UTSW 10 81181889 missense probably damaging 1.00
Z1176:Eef2 UTSW 10 81181158 critical splice donor site probably null
Posted On2016-08-02