Incidental Mutation 'IGL03109:Eef2k'
| ID |
419123 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eef2k
|
| Ensembl Gene |
ENSMUSG00000035064 |
| Gene Name |
eukaryotic elongation factor-2 kinase |
| Synonyms |
eEF-2K |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
IGL03109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120442080-120506441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120490949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 523
(G523E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047875]
[ENSMUST00000106487]
[ENSMUST00000106488]
[ENSMUST00000106489]
[ENSMUST00000146482]
|
| AlphaFold |
O08796 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047875
AA Change: G523E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: G523E
| 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: G523E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: G523E
| 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: G523E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: G523E
| 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 |
probably benign
Transcript: ENSMUST00000146482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207651
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,628 (GRCm39) |
S96R |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,071,173 (GRCm39) |
H1506L |
probably damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,734,304 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,846,841 (GRCm39) |
T424A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,886,329 (GRCm39) |
S552R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,952,527 (GRCm39) |
T2172A |
possibly damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,515 (GRCm39) |
V103A |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,839,045 (GRCm39) |
D216V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,765 (GRCm39) |
T519A |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,188 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,841,950 (GRCm39) |
T1369A |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,199,121 (GRCm39) |
T222A |
possibly damaging |
Het |
| Ephb2 |
T |
G |
4: 136,498,855 (GRCm39) |
T75P |
probably damaging |
Het |
| Exo1 |
A |
T |
1: 175,727,126 (GRCm39) |
N479I |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,811,006 (GRCm39) |
L88P |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,735,973 (GRCm39) |
V1740E |
possibly damaging |
Het |
| Icos |
A |
G |
1: 61,036,856 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
C |
A |
3: 89,784,165 (GRCm39) |
G369* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,394,942 (GRCm39) |
D83G |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,379,135 (GRCm39) |
I560T |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,402,514 (GRCm39) |
R2219H |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,986,085 (GRCm39) |
C119S |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,411,010 (GRCm39) |
R267H |
probably benign |
Het |
| Myrip |
A |
T |
9: 120,282,790 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
A |
2: 25,091,073 (GRCm39) |
L542F |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,873 (GRCm39) |
C359R |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,280,212 (GRCm39) |
H40L |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,610,089 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
T |
17: 38,263,378 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pank3 |
T |
A |
11: 35,668,501 (GRCm39) |
F163L |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,148,046 (GRCm39) |
|
probably null |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,559 (GRCm39) |
S297P |
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,399,165 (GRCm39) |
M246K |
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,742,278 (GRCm39) |
|
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,457,156 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
T |
11: 87,434,191 (GRCm39) |
E119V |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,683,224 (GRCm39) |
K669R |
probably damaging |
Het |
| Tnfrsf4 |
C |
A |
4: 156,099,868 (GRCm39) |
H130Q |
probably damaging |
Het |
| Trav18 |
G |
A |
14: 54,069,008 (GRCm39) |
A18T |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation