Incidental Mutation 'R3610:Eef2k'
| ID |
269205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2k
|
| Ensembl Gene |
ENSMUSG00000035064 |
| Gene Name |
eukaryotic elongation factor-2 kinase |
| Synonyms |
eEF-2K |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R3610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120442080-120506441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120488458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 448
(S448G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047875]
[ENSMUST00000106487]
[ENSMUST00000106488]
[ENSMUST00000106489]
[ENSMUST00000146482]
|
| AlphaFold |
O08796 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047875
AA Change: S448G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: S448G
| 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 benign
Transcript: ENSMUST00000106488
AA Change: S448G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: S448G
| 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
AA Change: S448G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: S448G
| 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: ENSMUST00000128813
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146482
AA Change: S17G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207651
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
C |
A |
11: 94,452,172 (GRCm39) |
V457L |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,285,694 (GRCm39) |
R733S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,443,276 (GRCm39) |
F989S |
probably damaging |
Het |
| Dcaf10 |
G |
T |
4: 45,372,962 (GRCm39) |
E409* |
probably null |
Het |
| Ddx3y |
T |
C |
Y: 1,263,928 (GRCm39) |
N545S |
probably null |
Het |
| Irf2bpl |
T |
C |
12: 86,928,631 (GRCm39) |
I681V |
probably benign |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
| Rcl1 |
A |
G |
19: 29,095,630 (GRCm39) |
T72A |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,780,658 (GRCm39) |
F796S |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tars1 |
T |
C |
15: 11,392,990 (GRCm39) |
Y152C |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,793,710 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,279 (GRCm39) |
V295I |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly 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 |
|
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 |
|
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'- CCAACTAGCCGCAGACTTTG -3'
(R):5'- TGGCTGAGTCTCTGCACTTC -3'
Sequencing Primer
(F):5'- TGAGCAGTTGCCCAGATCTTGAC -3'
(R):5'- GAGTCTCTGCACTTCACCTTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation