Incidental Mutation 'IGL01481:Eef2k'
| ID |
88627 |
| 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 # |
IGL01481
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120442080-120506441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120494441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 35
(Y35F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047875]
[ENSMUST00000106487]
[ENSMUST00000106488]
[ENSMUST00000106489]
[ENSMUST00000146482]
|
| AlphaFold |
O08796 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047875
AA Change: Y599F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: Y599F
| 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
AA Change: Y35F
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102096
Gene: ENSMUSG00000035064
AA Change: Y35F
| 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: Y599F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: Y599F
| 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: Y599F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: Y599F
| 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: Y60F
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,910,079 (GRCm39) |
S523C |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,867,450 (GRCm39) |
D798E |
possibly damaging |
Het |
| Arhgef7 |
G |
T |
8: 11,865,256 (GRCm39) |
V410L |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,077,296 (GRCm39) |
L338P |
probably damaging |
Het |
| Cldn17 |
A |
G |
16: 88,303,471 (GRCm39) |
V86A |
probably benign |
Het |
| Clec4a2 |
A |
G |
6: 123,119,459 (GRCm39) |
N237S |
probably benign |
Het |
| Cmtr1 |
T |
G |
17: 29,917,631 (GRCm39) |
I654S |
probably benign |
Het |
| Cryzl2 |
G |
A |
1: 157,298,309 (GRCm39) |
|
probably null |
Het |
| Ctif |
A |
G |
18: 75,744,855 (GRCm39) |
|
probably benign |
Het |
| Dcaf7 |
T |
A |
11: 105,945,572 (GRCm39) |
I307N |
probably damaging |
Het |
| Drosha |
A |
T |
15: 12,842,525 (GRCm39) |
T399S |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,089,410 (GRCm39) |
S193P |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,025 (GRCm39) |
I7T |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,805,100 (GRCm39) |
N1247K |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,893,431 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
C |
T |
12: 52,002,208 (GRCm39) |
G243S |
probably damaging |
Het |
| Hivep2 |
G |
A |
10: 14,024,981 (GRCm39) |
R2265Q |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,882,174 (GRCm39) |
S1073P |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,724,009 (GRCm39) |
S514P |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,694,492 (GRCm39) |
|
probably null |
Het |
| Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
| Itih5 |
A |
C |
2: 10,195,100 (GRCm39) |
Q164P |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,750,215 (GRCm39) |
E1045D |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,168,951 (GRCm39) |
V1374A |
possibly damaging |
Het |
| Mrps34 |
T |
C |
17: 25,116,310 (GRCm39) |
|
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,366,321 (GRCm39) |
D191G |
probably damaging |
Het |
| Nlrc3 |
T |
G |
16: 3,781,769 (GRCm39) |
N563H |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10g6 |
T |
C |
9: 39,934,574 (GRCm39) |
M295T |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,870 (GRCm39) |
L195P |
probably damaging |
Het |
| Or52u1 |
C |
A |
7: 104,237,067 (GRCm39) |
P36T |
probably damaging |
Het |
| Pdgfd |
C |
A |
9: 6,337,271 (GRCm39) |
T195K |
probably null |
Het |
| Ptprz1 |
C |
A |
6: 22,999,979 (GRCm39) |
Q690K |
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,430,903 (GRCm39) |
M23K |
probably damaging |
Het |
| Scn10a |
G |
A |
9: 119,438,260 (GRCm39) |
R1869C |
probably damaging |
Het |
| Scp2 |
T |
C |
4: 107,931,639 (GRCm39) |
|
probably null |
Het |
| Sec61a1 |
A |
G |
6: 88,483,829 (GRCm39) |
V354A |
probably benign |
Het |
| Sgpp1 |
T |
C |
12: 75,769,431 (GRCm39) |
I246V |
probably benign |
Het |
| Slco2a1 |
G |
T |
9: 102,947,450 (GRCm39) |
D250Y |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,460,273 (GRCm39) |
N1435D |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,425,449 (GRCm39) |
I23M |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,026,858 (GRCm39) |
T274S |
probably damaging |
Het |
| Tbc1d22b |
T |
C |
17: 29,787,572 (GRCm39) |
L107P |
possibly damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem45a2 |
T |
A |
16: 56,867,375 (GRCm39) |
I109F |
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Tox |
T |
A |
4: 6,842,396 (GRCm39) |
T45S |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,872,250 (GRCm39) |
D395N |
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 |
|
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation