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)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
Incidental Mutation