Incidental Mutation 'R7486:Eef2k'
ID 580165
Institutional Source Beutler Lab
Gene Symbol Eef2k
Ensembl Gene ENSMUSG00000035064
Gene Name eukaryotic elongation factor-2 kinase
Synonyms eEF-2K
MMRRC Submission 045560-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R7486 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 120442080-120506441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120457793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 51 (N51D)
Ref Sequence ENSEMBL: ENSMUSP00000046595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000143279] [ENSMUST00000143322]
AlphaFold O08796
Predicted Effect probably benign
Transcript: ENSMUST00000047875
AA Change: N51D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: N51D

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: ENSMUST00000106488
AA Change: N51D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: N51D

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: N51D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: N51D

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: ENSMUST00000143279
Predicted Effect probably benign
Transcript: ENSMUST00000143322
AA Change: N51D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115486
Gene: ENSMUSG00000035064
AA Change: N51D

DomainStartEndE-ValueType
Blast:Alpha_kinase 5 81 6e-15 BLAST
Blast:Alpha_kinase 120 160 1e-21 BLAST
SCOP:d1ia9a_ 129 160 3e-7 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 T C 12: 81,605,657 (GRCm39) I702V probably benign Het
Adgre5 T C 8: 84,450,515 (GRCm39) E815G probably damaging Het
Adgrl2 A G 3: 148,523,330 (GRCm39) V298A Het
Akp3 A G 1: 87,053,201 (GRCm39) D91G probably damaging Het
Ano8 A G 8: 71,937,642 (GRCm39) probably null Het
Blvra T C 2: 126,929,243 (GRCm39) S136P unknown Het
Cacul1 T A 19: 60,568,868 (GRCm39) M97L probably benign Het
Ccdc80 T C 16: 44,946,542 (GRCm39) V827A probably damaging Het
Cep68 T C 11: 20,192,166 (GRCm39) E11G probably benign Het
Cfap221 A T 1: 119,851,322 (GRCm39) V813E possibly damaging Het
Chd6 A G 2: 160,791,923 (GRCm39) V2478A probably damaging Het
Chmp6 T C 11: 119,807,783 (GRCm39) F148S probably benign Het
Clca3a2 T A 3: 144,503,362 (GRCm39) I863F probably damaging Het
Cnnm2 T C 19: 46,750,513 (GRCm39) V101A possibly damaging Het
Cpne8 A T 15: 90,400,109 (GRCm39) probably null Het
Dmbt1 T G 7: 130,668,192 (GRCm39) C483G unknown Het
Dnah7b G A 1: 46,329,894 (GRCm39) G3246D probably damaging Het
Dnajc3 C A 14: 119,209,816 (GRCm39) T297K probably benign Het
Dpm3 A G 3: 89,174,034 (GRCm39) probably null Het
Erc1 G A 6: 119,571,907 (GRCm39) Q1022* probably null Het
Ercc5 T A 1: 44,187,224 (GRCm39) M1K probably null Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fat4 C A 3: 39,011,576 (GRCm39) Y2225* probably null Het
Frk G A 10: 34,423,292 (GRCm39) W123* probably null Het
Gm11568 T A 11: 99,749,292 (GRCm39) C166S unknown Het
Gpr153 A G 4: 152,366,858 (GRCm39) D337G probably benign Het
Gpt2 T C 8: 86,252,235 (GRCm39) F517L probably damaging Het
Gsg1 C T 6: 135,214,427 (GRCm39) E361K probably benign Het
Hsfy2 G A 1: 56,676,130 (GRCm39) R136* probably null Het
Insm1 G A 2: 146,065,738 (GRCm39) R518H probably damaging Het
Kank1 G A 19: 25,388,193 (GRCm39) C622Y probably damaging Het
Katnb1 T A 8: 95,825,357 (GRCm39) S640R probably damaging Het
Kcnmb4 A G 10: 116,254,180 (GRCm39) V199A probably benign Het
Lamb1 T G 12: 31,337,441 (GRCm39) S391A probably benign Het
Larp7-ps A T 4: 92,079,506 (GRCm39) V105E probably benign Het
Macf1 T G 4: 123,303,374 (GRCm39) D376A probably benign Het
Map7d1 C A 4: 126,128,179 (GRCm39) R614L unknown Het
Mcm8 C T 2: 132,681,440 (GRCm39) R667W probably damaging Het
Med13l C T 5: 118,866,539 (GRCm39) T531I probably benign Het
Mstn G T 1: 53,103,128 (GRCm39) A155S probably damaging Het
Mycbp2 C T 14: 103,434,690 (GRCm39) R2251K probably damaging Het
Myo19 T C 11: 84,796,463 (GRCm39) S692P probably benign Het
Nipbl A T 15: 8,325,120 (GRCm39) N2514K probably benign Het
Nkd2 T A 13: 73,995,561 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,219 (GRCm39) Y322F probably damaging Het
Nt5dc1 A G 10: 34,275,805 (GRCm39) Y135H probably benign Het
Oog3 T A 4: 143,884,742 (GRCm39) H398L probably benign Het
Or10g9 T A 9: 39,912,181 (GRCm39) Y114F probably benign Het
Or12j4 C T 7: 140,045,947 (GRCm39) probably benign Het
Or1e29 T C 11: 73,667,847 (GRCm39) Y102C probably damaging Het
Otogl A G 10: 107,657,849 (GRCm39) L1027P probably damaging Het
Pcdh20 T A 14: 88,706,050 (GRCm39) I417F possibly damaging Het
Pcdha12 T A 18: 37,154,610 (GRCm39) V443E probably damaging Het
Pcdhga2 A G 18: 37,803,461 (GRCm39) D435G probably benign Het
Pcnt G T 10: 76,254,270 (GRCm39) T853K probably benign Het
Pcnt T C 10: 76,254,271 (GRCm39) T853A probably benign Het
Pgghg T A 7: 140,522,393 (GRCm39) S57R probably benign Het
Ppm1m T C 9: 106,073,810 (GRCm39) D301G probably damaging Het
Ppp6r1 A G 7: 4,642,899 (GRCm39) V519A probably benign Het
Prss41 ACAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCA 17: 24,063,072 (GRCm39) probably benign Het
Rasa3 C T 8: 13,640,201 (GRCm39) probably null Het
Robo4 T C 9: 37,316,870 (GRCm39) V395A probably damaging Het
Scrib A G 15: 75,929,499 (GRCm39) S1123P probably damaging Het
Setd1b A G 5: 123,301,655 (GRCm39) K45E probably benign Het
Slc14a1 T C 18: 78,154,739 (GRCm39) S216G probably benign Het
Slc25a45 A G 19: 5,934,997 (GRCm39) Y282C probably damaging Het
Slc6a5 T C 7: 49,567,078 (GRCm39) S255P possibly damaging Het
Smc2 A T 4: 52,462,861 (GRCm39) Q617L possibly damaging Het
Spo11 G A 2: 172,825,870 (GRCm39) D103N probably benign Het
Tcf20 A T 15: 82,737,935 (GRCm39) M1172K possibly damaging Het
Tesc T A 5: 118,184,382 (GRCm39) S21T probably benign Het
Tie1 C A 4: 118,337,101 (GRCm39) probably null Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trpm7 A G 2: 126,673,115 (GRCm39) probably null Het
Unc13d T C 11: 115,965,259 (GRCm39) D193G possibly damaging Het
Upk3a A T 15: 84,902,225 (GRCm39) probably null Het
Vmn2r25 T C 6: 123,800,101 (GRCm39) N747S probably damaging Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign Het
Zbtb2 G A 10: 4,319,025 (GRCm39) Q334* probably null Het
Zfp653 T C 9: 21,967,824 (GRCm39) N494D probably damaging Het
Zfp865 A G 7: 5,034,259 (GRCm39) D748G possibly damaging Het
Zzef1 T C 11: 72,755,612 (GRCm39) S1014P possibly damaging 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
R4885:Eef2k UTSW 7 120,491,155 (GRCm39) missense probably benign
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
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'- ACTCCCTTTGCAGGACCATC -3'
(R):5'- CCAGGGTCTGTGGACAACTAAG -3'

Sequencing Primer
(F):5'- AGTAACTCTGGCTGCACAG -3'
(R):5'- GGTCTGTGGACAACTAAGACATC -3'
Posted On 2019-10-07