Incidental Mutation 'R3856:Eef2k'
ID 276164
Institutional Source Beutler Lab
Gene Symbol Eef2k
Ensembl Gene ENSMUSG00000035064
Gene Name eukaryotic elongation factor-2 kinase
Synonyms eEF-2K
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R3856 (G1)
Quality Score 196
Status Validated
Chromosome 7
Chromosomal Location 120442080-120506441 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 120498594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 91 (C91*)
Ref Sequence ENSEMBL: ENSMUSP00000114782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106487] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000146482]
AlphaFold O08796
Predicted Effect probably null
Transcript: ENSMUST00000047875
AA Change: C630*
SMART Domains Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: C630*

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 null
Transcript: ENSMUST00000106487
AA Change: C66*
SMART Domains Protein: ENSMUSP00000102096
Gene: ENSMUSG00000035064
AA Change: C66*

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 null
Transcript: ENSMUST00000106488
AA Change: C630*
SMART Domains Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: C630*

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 null
Transcript: ENSMUST00000106489
AA Change: C630*
SMART Domains Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: C630*

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 null
Transcript: ENSMUST00000146482
AA Change: C91*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P 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
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
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'- GTCACTTAGATGTGGTGGCC -3'
(R):5'- TGAGAACTATAGACCTTCACCAGC -3'

Sequencing Primer
(F):5'- GCCTTTGGTACTATAGTTTGTAGCTC -3'
(R):5'- CCTCACCTGATCTTTGGGGG -3'
Posted On 2015-04-06