Incidental Mutation 'R7815:Eef2k'
| ID |
601470 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R7815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120442080-120506441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120457793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 51
(N51D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047875]
[ENSMUST00000106488]
[ENSMUST00000106489]
[ENSMUST00000143279]
[ENSMUST00000143322]
|
| AlphaFold |
O08796 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047875
AA Change: N51D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: N51D
| 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
AA Change: N51D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: N51D
| 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: N51D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: N51D
| 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: ENSMUST00000143279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143322
AA Change: N51D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115486
Gene: ENSMUSG00000035064
AA Change: N51D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,818,866 (GRCm39) |
D1285G |
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,598,331 (GRCm39) |
V669A |
probably damaging |
Het |
| Ajap1 |
C |
A |
4: 153,517,288 (GRCm39) |
G18C |
probably damaging |
Het |
| Alms1 |
G |
T |
6: 85,592,340 (GRCm39) |
M397I |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,982,247 (GRCm39) |
M794K |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
| Casz1 |
A |
T |
4: 149,013,762 (GRCm39) |
I109F |
possibly damaging |
Het |
| Ces5a |
G |
A |
8: 94,247,623 (GRCm39) |
S297F |
possibly damaging |
Het |
| Col7a1 |
A |
G |
9: 108,798,633 (GRCm39) |
D1762G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,375,446 (GRCm39) |
Y1077F |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,081,885 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,289 (GRCm39) |
S579R |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,815,152 (GRCm39) |
M1L |
possibly damaging |
Het |
| Galk2 |
G |
A |
2: 125,817,321 (GRCm39) |
S370N |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,192,904 (GRCm39) |
T516S |
probably benign |
Het |
| Homez |
T |
C |
14: 55,095,675 (GRCm39) |
N11S |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,239,775 (GRCm39) |
G494D |
probably damaging |
Het |
| Htr3b |
C |
T |
9: 48,856,833 (GRCm39) |
R215Q |
probably benign |
Het |
| Igfbp4 |
A |
G |
11: 98,932,654 (GRCm39) |
E111G |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,420 (GRCm39) |
T5A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,716,002 (GRCm39) |
K566E |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,450,317 (GRCm39) |
V69A |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 940,702 (GRCm39) |
V1071A |
probably damaging |
Het |
| Kif28 |
A |
G |
1: 179,563,548 (GRCm39) |
C143R |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,590 (GRCm39) |
M65V |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,156,276 (GRCm39) |
S669G |
unknown |
Het |
| Man1a2 |
A |
T |
3: 100,563,495 (GRCm39) |
I50N |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,745,667 (GRCm39) |
M356L |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,566,414 (GRCm39) |
N677Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,528,674 (GRCm39) |
K1108M |
possibly damaging |
Het |
| Nav1 |
C |
T |
1: 135,512,377 (GRCm39) |
E228K |
possibly damaging |
Het |
| Ncapd3 |
G |
A |
9: 26,974,736 (GRCm39) |
W736* |
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,309,552 (GRCm39) |
D514G |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,494,111 (GRCm39) |
T657S |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,386,253 (GRCm39) |
F26S |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,530,992 (GRCm39) |
S153P |
probably benign |
Het |
| Oser1 |
A |
T |
2: 163,253,336 (GRCm39) |
S58T |
possibly damaging |
Het |
| Pcdha5 |
T |
A |
18: 37,094,556 (GRCm39) |
I355N |
possibly damaging |
Het |
| Pllp |
C |
G |
8: 95,402,804 (GRCm39) |
G99A |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,861,106 (GRCm39) |
N509S |
probably benign |
Het |
| Prkd1 |
A |
C |
12: 50,472,300 (GRCm39) |
N204K |
probably damaging |
Het |
| Prss23 |
G |
A |
7: 89,159,253 (GRCm39) |
P272L |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,055,824 (GRCm39) |
F1057L |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,719,702 (GRCm39) |
S777R |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rfx3 |
A |
T |
19: 27,803,448 (GRCm39) |
M265K |
probably benign |
Het |
| S100a7a |
C |
A |
3: 90,565,119 (GRCm39) |
H105N |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,084,625 (GRCm39) |
D132G |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,274,822 (GRCm39) |
|
probably benign |
Het |
| Tacstd2 |
A |
G |
6: 67,512,140 (GRCm39) |
F184S |
possibly damaging |
Het |
| Trdc |
C |
A |
14: 54,381,259 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,974,486 (GRCm39) |
H232L |
probably benign |
Het |
| Trpc3 |
G |
T |
3: 36,709,294 (GRCm39) |
T394K |
probably benign |
Het |
| Tuba3b |
G |
A |
6: 145,566,847 (GRCm39) |
V363I |
possibly damaging |
Het |
| Tubb2a |
C |
A |
13: 34,258,962 (GRCm39) |
R276L |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,951,071 (GRCm39) |
L72* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,638 (GRCm39) |
V166A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,339,756 (GRCm39) |
G666R |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,237,516 (GRCm39) |
K247E |
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 |
|
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 |
|
|
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'- ACTCCCTTTGCAGGACCATC -3'
(R):5'- TGTGGACAACTAAGACATCAATCAGAG -3'
Sequencing Primer
(F):5'- AGTAACTCTGGCTGCACAG -3'
(R):5'- TCAATCAGAGACCCCAGCTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation