Incidental Mutation 'R4885:Eef2k'
ID 375637
Institutional Source Beutler Lab
Gene Symbol Eef2k
Ensembl Gene ENSMUSG00000035064
Gene Name eukaryotic elongation factor-2 kinase
Synonyms eEF-2K
MMRRC Submission 042851-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R4885 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 120442080-120506441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120491155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 547 (R547Q)
Ref Sequence ENSEMBL: ENSMUSP00000102098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106487] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000146482]
AlphaFold O08796
Predicted Effect probably benign
Transcript: ENSMUST00000047875
AA Change: R547Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: R547Q

DomainStartEndE-ValueType
Blast:Alpha_kinase 5 81 2e-12 BLAST
Alpha_kinase 120 317 7.75e-109 SMART
low complexity region 358 376 N/A INTRINSIC
Pfam:Sel1 525 562 7.2e-5 PFAM
Pfam:Sel1 564 608 2.9e-3 PFAM
Pfam:Sel1 609 645 1.3e-1 PFAM
Pfam:Sel1 665 699 1.2e-2 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106487
SMART Domains Protein: ENSMUSP00000102096
Gene: ENSMUSG00000035064

DomainStartEndE-ValueType
Blast:Alpha_kinase 5 81 1e-12 BLAST
Alpha_kinase 120 317 7.75e-109 SMART
Pfam:Sel1 432 472 1.8e-3 PFAM
Pfam:Sel1 474 518 7.2e-3 PFAM
Pfam:Sel1 519 555 8e-2 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106488
AA Change: R547Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: R547Q

DomainStartEndE-ValueType
Blast:Alpha_kinase 5 81 2e-12 BLAST
Alpha_kinase 120 317 7.75e-109 SMART
low complexity region 358 376 N/A INTRINSIC
Pfam:Sel1 522 562 1.1e-3 PFAM
Pfam:Sel1 564 608 3.9e-3 PFAM
Pfam:Sel1 609 645 4.8e-2 PFAM
Pfam:Sel1 664 699 4.6e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106489
AA Change: R547Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: R547Q

DomainStartEndE-ValueType
Blast:Alpha_kinase 5 81 2e-12 BLAST
Alpha_kinase 120 317 7.75e-109 SMART
low complexity region 358 376 N/A INTRINSIC
Pfam:Sel1 522 562 1.1e-3 PFAM
Pfam:Sel1 564 608 3.9e-3 PFAM
Pfam:Sel1 609 645 4.8e-2 PFAM
Pfam:Sel1 664 699 4.6e-3 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128813
Predicted Effect probably benign
Transcript: ENSMUST00000146482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207651
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired regulation of ovarian follicular degeneration and apoptosis, prolonged estrus, and increased ovarian follicle numbers in aged females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,370,425 (GRCm39) T317A probably benign Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adgrb1 A T 15: 74,444,011 (GRCm39) M1038L probably benign Het
Anapc10 C T 8: 80,455,779 (GRCm39) T76I probably benign Het
Atosa T C 9: 74,913,649 (GRCm39) L94P probably damaging Het
Bptf C T 11: 106,965,474 (GRCm39) S1177N probably benign Het
Bsn A T 9: 107,984,726 (GRCm39) Y337* probably null Het
Ccl20 T A 1: 83,095,580 (GRCm39) V48E possibly damaging Het
Ccnl1 C T 3: 65,864,320 (GRCm39) D122N probably damaging Het
Chat C G 14: 32,176,567 (GRCm39) G69A probably damaging Het
Cr2 T A 1: 194,841,039 (GRCm39) I418F possibly damaging Het
Dmxl1 G C 18: 50,011,862 (GRCm39) A1340P probably damaging Het
Eml2 G A 7: 18,937,935 (GRCm39) S793N probably benign Het
Enox1 T A 14: 77,958,290 (GRCm39) L632Q probably damaging Het
Fabp9 T C 3: 10,259,738 (GRCm39) K92E probably damaging Het
Fam234a T C 17: 26,432,559 (GRCm39) H530R probably benign Het
Fancm C T 12: 65,149,417 (GRCm39) Q728* probably null Het
Fgd3 G A 13: 49,417,465 (GRCm39) T666M possibly damaging Het
Foxs1 T C 2: 152,774,301 (GRCm39) M251V probably benign Het
Fsip2 A T 2: 82,818,438 (GRCm39) M4724L probably benign Het
Gemin6 G A 17: 80,535,327 (GRCm39) E96K probably damaging Het
Gfi1 C A 5: 107,871,152 (GRCm39) V80F probably damaging Het
H3c13 G T 3: 96,176,277 (GRCm39) V90F possibly damaging Het
Hectd1 A G 12: 51,847,505 (GRCm39) V442A probably damaging Het
Ift80 A G 3: 68,857,829 (GRCm39) I272T probably damaging Het
Impact C G 18: 13,119,430 (GRCm39) A214G probably damaging Het
Insl6 C T 19: 29,302,556 (GRCm39) E54K probably benign Het
Irak3 T A 10: 120,018,586 (GRCm39) D54V probably damaging Het
Itk C T 11: 46,227,171 (GRCm39) probably null Het
Ivl A T 3: 92,479,718 (GRCm39) C116S probably benign Het
Kcnq4 G A 4: 120,570,260 (GRCm39) A361V probably benign Het
L1td1 C T 4: 98,625,548 (GRCm39) P581L probably benign Het
Lrp1b T C 2: 41,358,905 (GRCm39) E656G probably benign Het
Macrod2 A G 2: 140,261,985 (GRCm39) T89A possibly damaging Het
Mettl13 T C 1: 162,364,837 (GRCm39) D514G probably damaging Het
Mfsd13b A T 7: 120,590,711 (GRCm39) I151F possibly damaging Het
Mical3 G A 6: 120,912,214 (GRCm39) P1882S probably damaging Het
Mycbp2 T C 14: 103,383,382 (GRCm39) E394G possibly damaging Het
Myo16 T A 8: 10,488,892 (GRCm39) S688T probably damaging Het
Neb T C 2: 52,176,058 (GRCm39) Y1467C probably damaging Het
Nhsl3 C T 4: 129,118,238 (GRCm39) R214Q probably damaging Het
Nkx6-3 C A 8: 23,643,914 (GRCm39) P105Q possibly damaging Het
Nlrp1b T C 11: 71,108,710 (GRCm39) T264A possibly damaging Het
Nnat G A 2: 157,403,678 (GRCm39) C122Y probably damaging Het
Notch3 G A 17: 32,360,351 (GRCm39) R1527C probably damaging Het
Or2y16 C T 11: 49,335,449 (GRCm39) T257I probably damaging Het
Or5an1c T G 19: 12,218,082 (GRCm39) probably null Het
Or5h18 A G 16: 58,847,518 (GRCm39) Y251H probably damaging Het
Pds5b C T 5: 150,639,927 (GRCm39) T14I probably benign Het
Phf19 A T 2: 34,789,718 (GRCm39) I334N probably damaging Het
Pik3ap1 T C 19: 41,364,365 (GRCm39) D118G probably benign Het
Pkhd1 T A 1: 20,140,712 (GRCm39) E3886V possibly damaging Het
Pkp1 A G 1: 135,846,690 (GRCm39) S21P possibly damaging Het
Pramel32 T A 4: 88,546,219 (GRCm39) L374F possibly damaging Het
Rack1 C A 11: 48,696,463 (GRCm39) A290E probably damaging Het
Rbm15 A G 3: 107,239,570 (GRCm39) V276A probably benign Het
Rnf216 A T 5: 143,076,335 (GRCm39) L183* probably null Het
Sc5d T C 9: 42,166,922 (GRCm39) I206V probably benign Het
Scpep1 A G 11: 88,826,737 (GRCm39) I233T probably benign Het
Sh3pxd2a A G 19: 47,257,132 (GRCm39) Y529H probably damaging Het
Slc1a4 A C 11: 20,254,384 (GRCm39) V494G probably damaging Het
Slc38a7 T C 8: 96,575,230 (GRCm39) T17A probably benign Het
Smg6 T C 11: 74,932,744 (GRCm39) S73P probably damaging Het
Stk32b T C 5: 37,624,141 (GRCm39) Y202C probably damaging Het
Tas2r140 A G 6: 40,468,334 (GRCm39) S55G probably damaging Het
Tcf12 C T 9: 71,766,122 (GRCm39) G504S probably null Het
Ttc3 G C 16: 94,227,690 (GRCm39) probably null Het
Ttc3 T C 16: 94,220,324 (GRCm39) I568T probably damaging Het
Ttc41 T G 10: 86,594,966 (GRCm39) N913K possibly damaging Het
Vrk1 G A 12: 106,024,231 (GRCm39) V236M probably damaging Het
Wscd1 C T 11: 71,650,972 (GRCm39) R100C probably damaging Het
Zc3h18 C T 8: 123,128,445 (GRCm39) probably benign Het
Other mutations in Eef2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Eef2k APN 7 120,484,038 (GRCm39) unclassified probably benign
IGL01481:Eef2k APN 7 120,494,441 (GRCm39) missense probably benign 0.23
IGL01935:Eef2k APN 7 120,485,054 (GRCm39) missense probably damaging 1.00
IGL03109:Eef2k APN 7 120,490,949 (GRCm39) missense probably damaging 1.00
R0458:Eef2k UTSW 7 120,502,513 (GRCm39) missense probably damaging 0.99
R1639:Eef2k UTSW 7 120,485,051 (GRCm39) missense probably damaging 1.00
R1986:Eef2k UTSW 7 120,472,569 (GRCm39) missense possibly damaging 0.92
R3419:Eef2k UTSW 7 120,485,093 (GRCm39) missense probably damaging 0.99
R3610:Eef2k UTSW 7 120,488,458 (GRCm39) missense probably benign
R3707:Eef2k UTSW 7 120,483,935 (GRCm39) missense probably damaging 1.00
R3856:Eef2k UTSW 7 120,498,594 (GRCm39) nonsense probably null
R4024:Eef2k UTSW 7 120,457,821 (GRCm39) missense probably benign 0.01
R4535:Eef2k UTSW 7 120,457,822 (GRCm39) nonsense probably null
R5137:Eef2k UTSW 7 120,484,646 (GRCm39) missense probably damaging 1.00
R5137:Eef2k UTSW 7 120,484,645 (GRCm39) missense probably damaging 0.99
R5501:Eef2k UTSW 7 120,488,471 (GRCm39) missense probably benign 0.00
R5610:Eef2k UTSW 7 120,486,005 (GRCm39) missense probably benign 0.00
R5633:Eef2k UTSW 7 120,472,513 (GRCm39) intron probably benign
R7002:Eef2k UTSW 7 120,491,155 (GRCm39) missense probably benign
R7166:Eef2k UTSW 7 120,483,995 (GRCm39) missense probably damaging 1.00
R7254:Eef2k UTSW 7 120,488,488 (GRCm39) missense probably benign 0.11
R7466:Eef2k UTSW 7 120,502,707 (GRCm39) splice site probably null
R7486:Eef2k UTSW 7 120,457,793 (GRCm39) missense probably benign
R7538:Eef2k UTSW 7 120,491,215 (GRCm39) missense probably benign 0.29
R7593:Eef2k UTSW 7 120,488,491 (GRCm39) critical splice donor site probably null
R7675:Eef2k UTSW 7 120,457,727 (GRCm39) missense probably benign
R7815:Eef2k UTSW 7 120,457,793 (GRCm39) missense probably benign
R7898:Eef2k UTSW 7 120,494,441 (GRCm39) missense probably damaging 1.00
R8182:Eef2k UTSW 7 120,472,626 (GRCm39) missense probably damaging 1.00
R8288:Eef2k UTSW 7 120,502,604 (GRCm39) missense probably damaging 1.00
R8495:Eef2k UTSW 7 120,487,103 (GRCm39) missense probably benign 0.00
R8807:Eef2k UTSW 7 120,490,930 (GRCm39) missense possibly damaging 0.69
R8881:Eef2k UTSW 7 120,472,548 (GRCm39) missense probably damaging 1.00
R8949:Eef2k UTSW 7 120,491,211 (GRCm39) missense probably damaging 0.99
R9044:Eef2k UTSW 7 120,479,584 (GRCm39) missense probably damaging 1.00
R9074:Eef2k UTSW 7 120,491,124 (GRCm39) missense probably damaging 1.00
R9332:Eef2k UTSW 7 120,483,918 (GRCm39) missense probably benign 0.00
R9445:Eef2k UTSW 7 120,457,694 (GRCm39) missense probably benign
R9605:Eef2k UTSW 7 120,491,170 (GRCm39) missense probably damaging 1.00
R9777:Eef2k UTSW 7 120,499,453 (GRCm39) critical splice acceptor site probably benign
Z1177:Eef2k UTSW 7 120,457,676 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGAAAATCGGGAAGTCTGTTTTGG -3'
(R):5'- TAAGCGATGGACTGGTGAGC -3'

Sequencing Primer
(F):5'- GTGATGCCCATTCCTGAGC -3'
(R):5'- ATGGACTGGTGAGCCCTTTC -3'
Posted On 2016-03-17