Incidental Mutation 'R8807:Eef2k'
ID 672139
Institutional Source Beutler Lab
Gene Symbol Eef2k
Ensembl Gene ENSMUSG00000035064
Gene Name eukaryotic elongation factor-2 kinase
Synonyms eEF-2K
MMRRC Submission 068643-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R8807 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 120442080-120506441 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120490930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 517 (I517F)
Ref Sequence ENSEMBL: ENSMUSP00000046595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106487] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000146482]
AlphaFold O08796
Predicted Effect possibly damaging
Transcript: ENSMUST00000047875
AA Change: I517F

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: I517F

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 possibly damaging
Transcript: ENSMUST00000106488
AA Change: I517F

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: I517F

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 possibly damaging
Transcript: ENSMUST00000106489
AA Change: I517F

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: I517F

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: ENSMUST00000146482
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (74/75)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik T C 5: 48,534,494 (GRCm39) I118T probably damaging Het
Abca8a A T 11: 109,974,252 (GRCm39) F227L probably benign Het
Abcc6 A T 7: 45,648,431 (GRCm39) I687N possibly damaging Het
Akain1 T C 17: 69,794,340 (GRCm39) *70Q probably null Het
Allc C T 12: 28,615,489 (GRCm39) G89S probably damaging Het
Aoc1l3 T C 6: 48,965,188 (GRCm39) F399L probably benign Het
Artn A T 4: 117,783,915 (GRCm39) S184T possibly damaging Het
B3galt9 A T 2: 34,728,818 (GRCm39) I206F probably damaging Het
Bcl2a1c A T 9: 114,159,248 (GRCm39) I9F probably damaging Het
Cacna2d1 T A 5: 16,472,452 (GRCm39) D286E probably damaging Het
Cdc25a G A 9: 109,708,303 (GRCm39) E98K probably benign Het
Cdcp3 A T 7: 130,846,507 (GRCm39) I644F probably damaging Het
Cdr2l A T 11: 115,284,741 (GRCm39) Q359L probably damaging Het
Cmip C T 8: 118,138,094 (GRCm39) T103M probably benign Het
Dcaf1 A G 9: 106,742,268 (GRCm39) T1358A probably benign Het
Dedd2 C T 7: 24,910,705 (GRCm39) R157Q probably benign Het
Dhrs1 A G 14: 55,982,499 (GRCm39) V9A probably damaging Het
Dop1b T A 16: 93,558,973 (GRCm39) V573E probably benign Het
En1 T C 1: 120,531,090 (GRCm39) F110S possibly damaging Het
Evpl T A 11: 116,111,853 (GRCm39) I1946F probably damaging Het
Gaa A T 11: 119,168,393 (GRCm39) M502L probably benign Het
Gfer C T 17: 24,914,846 (GRCm39) A66T possibly damaging Het
Gm13271 A G 4: 88,673,213 (GRCm39) T37A probably benign Het
Grm3 C T 5: 9,561,499 (GRCm39) A784T probably damaging Het
H3c8 A G 13: 23,719,628 (GRCm39) K5E probably benign Het
Helz C G 11: 107,493,835 (GRCm39) S277C probably damaging Het
Henmt1 T G 3: 108,867,652 (GRCm39) *396G probably null Het
Hfe C T 13: 23,889,667 (GRCm39) V327I probably benign Het
Hoxd8 A T 2: 74,536,313 (GRCm39) Q141L probably damaging Het
Hspa12b T G 2: 130,987,103 (GRCm39) S675A probably benign Het
Ifi214 G A 1: 173,354,133 (GRCm39) T179I possibly damaging Het
Ighv5-9 T A 12: 113,625,404 (GRCm39) Y113F possibly damaging Het
Lca5l T A 16: 95,979,808 (GRCm39) R112S probably benign Het
Lmbrd1 C T 1: 24,770,843 (GRCm39) P257S probably benign Het
Loxhd1 C T 18: 77,444,468 (GRCm39) T608I possibly damaging Het
Lpl C A 8: 69,345,280 (GRCm39) L95I probably damaging Het
Lrp2bp A T 8: 46,473,732 (GRCm39) Q196L probably damaging Het
Ly6h A G 15: 75,438,056 (GRCm39) Y19H probably benign Het
Mfsd6 T C 1: 52,697,706 (GRCm39) probably benign Het
Mpo T C 11: 87,687,165 (GRCm39) I237T probably benign Het
Mrpl41 A G 2: 24,864,878 (GRCm39) W6R unknown Het
Muc16 T A 9: 18,567,353 (GRCm39) H1722L unknown Het
Mug1 A C 6: 121,851,434 (GRCm39) D777A probably benign Het
Myh1 A T 11: 67,111,354 (GRCm39) I1598F probably benign Het
Myo1f C T 17: 33,794,879 (GRCm39) R40C probably damaging Het
Myo6 G A 9: 80,207,949 (GRCm39) probably null Het
Nbeal2 G T 9: 110,458,707 (GRCm39) N2071K probably damaging Het
Nectin4 T A 1: 171,211,282 (GRCm39) C269S probably damaging Het
Nhlrc1 A T 13: 47,167,990 (GRCm39) L89Q probably damaging Het
Nup205 T C 6: 35,160,904 (GRCm39) F103S probably damaging Het
Obscn C A 11: 58,970,470 (GRCm39) V2379F probably damaging Het
Or5m8 A T 2: 85,823,172 (GRCm39) *337L probably null Het
Or5p62 A T 7: 107,771,852 (GRCm39) I33N possibly damaging Het
Plppr2 TCGCC TC 9: 21,855,727 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,517,584 (GRCm39) V101A probably benign Het
Rps6kb2 C T 19: 4,213,229 (GRCm39) D6N probably damaging Het
Rsph1 T A 17: 31,484,828 (GRCm39) H154L probably damaging Het
Sdk1 G A 5: 142,071,382 (GRCm39) V1191M probably damaging Het
Selenos T A 7: 65,729,467 (GRCm39) D2E probably benign Het
Sema5a G A 15: 32,562,868 (GRCm39) G293D possibly damaging Het
Sgcg A G 14: 61,469,930 (GRCm39) S144P probably damaging Het
Sh3d19 T C 3: 85,992,659 (GRCm39) V229A probably benign Het
Sin3b C T 8: 73,476,708 (GRCm39) A714V probably benign Het
Slitrk6 T A 14: 110,988,123 (GRCm39) Q528L possibly damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Stard9 T A 2: 120,535,932 (GRCm39) L4063H probably damaging Het
Stard9 A C 2: 120,535,943 (GRCm39) K4067Q probably damaging Het
Terb1 A G 8: 105,195,741 (GRCm39) probably null Het
Tex2 T A 11: 106,435,194 (GRCm39) H744L unknown Het
Tex2 T C 11: 106,458,414 (GRCm39) S339G unknown Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trhr A T 15: 44,061,212 (GRCm39) N244I probably benign Het
Ttn G A 2: 76,582,409 (GRCm39) A22828V probably damaging Het
Uchl1 C T 5: 66,833,601 (GRCm39) probably benign Het
Uroc1 A T 6: 90,328,110 (GRCm39) I529F probably damaging Het
Vps13c G T 9: 67,766,122 (GRCm39) V80F probably damaging Het
Wnt1 T A 15: 98,690,645 (GRCm39) C325S probably 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
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
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'- GGTCCAATAAAGTCTGATGCCATC -3'
(R):5'- CATGGCCAAATGGACCTGTC -3'

Sequencing Primer
(F):5'- AGCCAGTCTCCTGATGTCATGG -3'
(R):5'- TGGACCTGTCACAAAGGTG -3'
Posted On 2021-04-30