Incidental Mutation 'R8288:Eef2k'
ID 638527
Institutional Source Beutler Lab
Gene Symbol Eef2k
Ensembl Gene ENSMUSG00000035064
Gene Name eukaryotic elongation factor-2 kinase
Synonyms eEF-2K
MMRRC Submission 067710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R8288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120842831-120907450 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120903381 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 722 (M722K)
Ref Sequence ENSEMBL: ENSMUSP00000046595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106487] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000146482]
AlphaFold O08796
Predicted Effect probably damaging
Transcript: ENSMUST00000047875
AA Change: M722K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: M722K

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 damaging
Transcript: ENSMUST00000106488
AA Change: M722K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: M722K

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 damaging
Transcript: ENSMUST00000106489
AA Change: M722K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: M722K

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 unknown
Transcript: ENSMUST00000146482
AA Change: M183K
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 C T 8: 22,793,137 (GRCm38) A200T probably benign Het
Arpp19 T C 9: 75,037,632 (GRCm38) M1T probably null Het
Baiap2 T A 11: 119,997,639 (GRCm38) V407E probably damaging Het
Cdh18 A G 15: 23,445,987 (GRCm38) T508A probably damaging Het
Cnnm3 C A 1: 36,511,993 (GRCm38) A28E possibly damaging Het
Cpb1 A T 3: 20,265,367 (GRCm38) C184* probably null Het
Ddb1 T C 19: 10,608,348 (GRCm38) V142A probably benign Het
Disp2 T C 2: 118,790,281 (GRCm38) V498A probably damaging Het
Dmgdh T C 13: 93,708,824 (GRCm38) Y442H probably damaging Het
Erbb4 A G 1: 68,298,350 (GRCm38) F603S probably damaging Het
Filip1l C T 16: 57,570,554 (GRCm38) R502C probably damaging Het
Gbp9 C T 5: 105,105,733 (GRCm38) V39M probably damaging Het
Gm17079 T C 14: 51,694,358 (GRCm38) Y98C Het
Gstz1 A G 12: 87,147,830 (GRCm38) M1V probably null Het
Hsd17b13 T G 5: 103,963,835 (GRCm38) I281L probably benign Het
Hydin A G 8: 110,507,029 (GRCm38) E1833G probably damaging Het
Irs1 G A 1: 82,287,961 (GRCm38) Q845* probably null Het
Kctd11 C T 11: 69,880,057 (GRCm38) G52R probably damaging Het
Kit T C 5: 75,654,489 (GRCm38) S962P probably damaging Het
Lrrn1 C T 6: 107,566,994 (GRCm38) probably benign Het
Mastl T C 2: 23,133,359 (GRCm38) K451E probably damaging Het
Mptx2 A G 1: 173,274,789 (GRCm38) V111A probably benign Het
Nuak2 G T 1: 132,327,841 (GRCm38) C178F probably damaging Het
Pah G A 10: 87,538,185 (GRCm38) R71H probably benign Het
Pclo C A 5: 14,712,871 (GRCm38) T501K Het
Pla2g4e C T 2: 120,188,509 (GRCm38) probably null Het
Polq A G 16: 37,027,910 (GRCm38) E293G probably damaging Het
Rptor G A 11: 119,857,937 (GRCm38) E782K probably benign Het
Scn7a T A 2: 66,675,974 (GRCm38) R1524W probably damaging Het
Slc4a5 T C 6: 83,226,255 (GRCm38) S46P probably benign Het
Srcap T A 7: 127,531,356 (GRCm38) I664N probably damaging Het
Stk24 A C 14: 121,293,429 (GRCm38) F372V possibly damaging Het
Szt2 T C 4: 118,389,776 (GRCm38) S881G probably damaging Het
Trim40 T C 17: 36,883,318 (GRCm38) D161G probably benign Het
Trip11 T C 12: 101,894,384 (GRCm38) H234R possibly damaging Het
Trpc1 T C 9: 95,721,381 (GRCm38) K366R probably damaging Het
Ugt2b35 T C 5: 87,001,457 (GRCm38) L189P probably damaging Het
Unc80 A G 1: 66,473,350 (GRCm38) S140G probably benign Het
Wdr60 A G 12: 116,213,725 (GRCm38) F811S probably damaging Het
Zfp446 A G 7: 12,977,958 (GRCm38) E36G probably benign Het
Zfp738 T A 13: 67,670,789 (GRCm38) H361L possibly damaging Het
Other mutations in Eef2k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Eef2k APN 7 120,884,815 (GRCm38) unclassified probably benign
IGL01481:Eef2k APN 7 120,895,218 (GRCm38) missense probably benign 0.23
IGL01935:Eef2k APN 7 120,885,831 (GRCm38) missense probably damaging 1.00
IGL03109:Eef2k APN 7 120,891,726 (GRCm38) missense probably damaging 1.00
R0458:Eef2k UTSW 7 120,903,290 (GRCm38) missense probably damaging 0.99
R1639:Eef2k UTSW 7 120,885,828 (GRCm38) missense probably damaging 1.00
R1986:Eef2k UTSW 7 120,873,346 (GRCm38) missense possibly damaging 0.92
R3419:Eef2k UTSW 7 120,885,870 (GRCm38) missense probably damaging 0.99
R3610:Eef2k UTSW 7 120,889,235 (GRCm38) missense probably benign
R3707:Eef2k UTSW 7 120,884,712 (GRCm38) missense probably damaging 1.00
R3856:Eef2k UTSW 7 120,899,371 (GRCm38) nonsense probably null
R4024:Eef2k UTSW 7 120,858,598 (GRCm38) missense probably benign 0.01
R4535:Eef2k UTSW 7 120,858,599 (GRCm38) nonsense probably null
R4885:Eef2k UTSW 7 120,891,932 (GRCm38) missense probably benign
R5137:Eef2k UTSW 7 120,885,423 (GRCm38) missense probably damaging 1.00
R5137:Eef2k UTSW 7 120,885,422 (GRCm38) missense probably damaging 0.99
R5501:Eef2k UTSW 7 120,889,248 (GRCm38) missense probably benign 0.00
R5610:Eef2k UTSW 7 120,886,782 (GRCm38) missense probably benign 0.00
R5633:Eef2k UTSW 7 120,873,290 (GRCm38) intron probably benign
R7002:Eef2k UTSW 7 120,891,932 (GRCm38) missense probably benign
R7166:Eef2k UTSW 7 120,884,772 (GRCm38) missense probably damaging 1.00
R7254:Eef2k UTSW 7 120,889,265 (GRCm38) missense probably benign 0.11
R7466:Eef2k UTSW 7 120,903,484 (GRCm38) splice site probably null
R7486:Eef2k UTSW 7 120,858,570 (GRCm38) missense probably benign
R7538:Eef2k UTSW 7 120,891,992 (GRCm38) missense probably benign 0.29
R7593:Eef2k UTSW 7 120,889,268 (GRCm38) critical splice donor site probably null
R7675:Eef2k UTSW 7 120,858,504 (GRCm38) missense probably benign
R7815:Eef2k UTSW 7 120,858,570 (GRCm38) missense probably benign
R7898:Eef2k UTSW 7 120,895,218 (GRCm38) missense probably damaging 1.00
R8182:Eef2k UTSW 7 120,873,403 (GRCm38) missense probably damaging 1.00
R8495:Eef2k UTSW 7 120,887,880 (GRCm38) missense probably benign 0.00
R8807:Eef2k UTSW 7 120,891,707 (GRCm38) missense possibly damaging 0.69
R8881:Eef2k UTSW 7 120,873,325 (GRCm38) missense probably damaging 1.00
R8949:Eef2k UTSW 7 120,891,988 (GRCm38) missense probably damaging 0.99
R9044:Eef2k UTSW 7 120,880,361 (GRCm38) missense probably damaging 1.00
R9074:Eef2k UTSW 7 120,891,901 (GRCm38) missense probably damaging 1.00
R9332:Eef2k UTSW 7 120,884,695 (GRCm38) missense probably benign 0.00
R9445:Eef2k UTSW 7 120,858,471 (GRCm38) missense probably benign
R9605:Eef2k UTSW 7 120,891,947 (GRCm38) missense probably damaging 1.00
R9777:Eef2k UTSW 7 120,900,230 (GRCm38) critical splice acceptor site probably benign
Z1177:Eef2k UTSW 7 120,858,453 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGCTATCCCCAGAGACTTGG -3'
(R):5'- GTTATAATGTCTCGGCCAGCTG -3'

Sequencing Primer
(F):5'- GAAACCTCAGATGCTCTCTTGGATG -3'
(R):5'- GCCAGCTGCAAAGGCTATC -3'
Posted On 2020-07-28