Incidental Mutation 'R5633:Eef2k'
ID |
439979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eef2k
|
Ensembl Gene |
ENSMUSG00000035064 |
Gene Name |
eukaryotic elongation factor-2 kinase |
Synonyms |
eEF-2K |
MMRRC Submission |
043284-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R5633 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
120442080-120506441 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 120472513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047875]
[ENSMUST00000106488]
[ENSMUST00000106489]
[ENSMUST00000143322]
|
AlphaFold |
O08796 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047875
|
SMART Domains |
Protein: ENSMUSP00000046595 Gene: ENSMUSG00000035064
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: ENSMUST00000106488
|
SMART Domains |
Protein: ENSMUSP00000102097 Gene: ENSMUSG00000035064
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 benign
Transcript: ENSMUST00000106489
|
SMART Domains |
Protein: ENSMUSP00000102098 Gene: ENSMUSG00000035064
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 |
noncoding transcript
Transcript: ENSMUST00000125828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141810
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143322
|
SMART Domains |
Protein: ENSMUSP00000115486 Gene: ENSMUSG00000035064
Domain | Start | End | E-Value | Type |
Blast:Alpha_kinase
|
5 |
81 |
6e-15 |
BLAST |
Blast:Alpha_kinase
|
120 |
160 |
1e-21 |
BLAST |
SCOP:d1ia9a_
|
129 |
160 |
3e-7 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (55/56) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
Dmtn |
T |
C |
14: 70,842,419 (GRCm39) |
M365V |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
Fbxo43 |
A |
T |
15: 36,162,241 (GRCm39) |
|
probably null |
Het |
Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
Gnb2 |
T |
C |
5: 137,527,454 (GRCm39) |
I213V |
probably benign |
Het |
Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,667,257 (GRCm39) |
I303N |
possibly damaging |
Het |
Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
P4htm |
A |
C |
9: 108,456,922 (GRCm39) |
D428E |
probably damaging |
Het |
Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
Rpn2 |
T |
A |
2: 157,125,516 (GRCm39) |
V9D |
possibly damaging |
Het |
Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
probably damaging |
Het |
|
Other mutations in Eef2k |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- AGCGACTTCTGTCCATAGGC -3'
(R):5'- TGTAAGAATCTGAAATTGGGGTGC -3'
Sequencing Primer
(F):5'- GACTTCTGTCCATAGGCTAAGC -3'
(R):5'- TTTCTTTGACCAGAAGCAGGACC -3'
|
Posted On |
2016-11-08 |