Incidental Mutation 'R5154:Eef2'
ID |
396589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eef2
|
Ensembl Gene |
ENSMUSG00000034994 |
Gene Name |
eukaryotic translation elongation factor 2 |
Synonyms |
Ef-2 |
MMRRC Submission |
042736-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5154 (G1)
|
Quality Score |
173 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCCC to GCCCC
at 81014601 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000047864]
[ENSMUST00000056086]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219133]
|
AlphaFold |
P58252 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047665
|
SMART Domains |
Protein: ENSMUSP00000035962 Gene: ENSMUSG00000034974
Domain | Start | End | E-Value | Type |
S_TKc
|
13 |
275 |
1.93e-98 |
SMART |
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
low complexity region
|
331 |
347 |
N/A |
INTRINSIC |
low complexity region
|
349 |
411 |
N/A |
INTRINSIC |
coiled coil region
|
419 |
444 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000047864
|
SMART Domains |
Protein: ENSMUSP00000046101 Gene: ENSMUSG00000034994
Domain | Start | End | E-Value | Type |
Pfam:GTP_EFTU
|
17 |
360 |
2e-65 |
PFAM |
Pfam:MMR_HSR1
|
21 |
159 |
6.3e-6 |
PFAM |
Pfam:GTP_EFTU_D2
|
409 |
486 |
2.3e-14 |
PFAM |
Pfam:EFG_II
|
501 |
568 |
1.9e-14 |
PFAM |
EFG_IV
|
621 |
737 |
5.56e-27 |
SMART |
EFG_C
|
739 |
828 |
4.06e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000056086
|
SMART Domains |
Protein: ENSMUSP00000049685 Gene: ENSMUSG00000053603
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082507
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178422
|
SMART Domains |
Protein: ENSMUSP00000137333 Gene: ENSMUSG00000034974
Domain | Start | End | E-Value | Type |
S_TKc
|
13 |
275 |
1.93e-98 |
SMART |
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
low complexity region
|
331 |
347 |
N/A |
INTRINSIC |
low complexity region
|
349 |
411 |
N/A |
INTRINSIC |
coiled coil region
|
419 |
444 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217936
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218157
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a mutation removing the diphthamide modification display partial neonatal lethality, fetal growth retardation and abnormal cell physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
C |
4: 39,450,938 (GRCm39) |
H48P |
probably damaging |
Het |
Angptl7 |
C |
T |
4: 148,581,882 (GRCm39) |
R168H |
probably damaging |
Het |
Ankrd11 |
A |
C |
8: 123,619,878 (GRCm39) |
F1325V |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,694,297 (GRCm39) |
D266G |
possibly damaging |
Het |
Apold1 |
A |
T |
6: 134,960,636 (GRCm39) |
H30L |
possibly damaging |
Het |
Arel1 |
A |
G |
12: 84,978,547 (GRCm39) |
F362L |
probably benign |
Het |
Arhgef4 |
T |
A |
1: 34,771,455 (GRCm39) |
M1254K |
probably benign |
Het |
Arid2 |
T |
A |
15: 96,299,866 (GRCm39) |
V1793E |
probably damaging |
Het |
Bcl7a |
T |
C |
5: 123,507,422 (GRCm39) |
S156P |
probably damaging |
Het |
Cbr3 |
A |
G |
16: 93,482,027 (GRCm39) |
I128V |
probably benign |
Het |
Cct6b |
G |
A |
11: 82,630,521 (GRCm39) |
P299L |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,842,282 (GRCm39) |
N443Y |
probably damaging |
Het |
Cd80 |
A |
G |
16: 38,294,342 (GRCm39) |
K75R |
probably benign |
Het |
Cdk1 |
A |
T |
10: 69,176,298 (GRCm39) |
|
probably benign |
Het |
Cep192 |
T |
A |
18: 67,983,755 (GRCm39) |
F1565I |
probably damaging |
Het |
Chtf18 |
T |
C |
17: 25,942,694 (GRCm39) |
T412A |
probably damaging |
Het |
Cit |
T |
C |
5: 116,126,464 (GRCm39) |
L1590P |
probably damaging |
Het |
Clcn2 |
T |
A |
16: 20,522,053 (GRCm39) |
R845S |
probably benign |
Het |
Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
Cnnm2 |
A |
T |
19: 46,751,571 (GRCm39) |
R454W |
probably benign |
Het |
Cpne8 |
T |
G |
15: 90,384,121 (GRCm39) |
I480L |
probably benign |
Het |
Cr2 |
A |
G |
1: 194,841,754 (GRCm39) |
W400R |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,537,167 (GRCm39) |
L528P |
probably damaging |
Het |
Dlgap5 |
C |
T |
14: 47,651,177 (GRCm39) |
V119M |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,571,320 (GRCm39) |
S190P |
probably benign |
Het |
Dnah3 |
T |
A |
7: 119,551,642 (GRCm39) |
K2881N |
probably damaging |
Het |
Dnmt3a |
A |
T |
12: 3,946,008 (GRCm39) |
I288F |
probably damaging |
Het |
Dse |
T |
A |
10: 34,029,657 (GRCm39) |
T478S |
possibly damaging |
Het |
Edn1 |
C |
T |
13: 42,458,499 (GRCm39) |
T104I |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,145,662 (GRCm39) |
H1157R |
probably damaging |
Het |
Fam168b |
G |
A |
1: 34,857,180 (GRCm39) |
T179I |
possibly damaging |
Het |
Fzd5 |
A |
G |
1: 64,775,131 (GRCm39) |
V210A |
probably benign |
Het |
Gm9742 |
T |
C |
13: 8,085,081 (GRCm39) |
|
noncoding transcript |
Het |
Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
Gpr141 |
C |
T |
13: 19,936,412 (GRCm39) |
R121K |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
Grk3 |
A |
T |
5: 113,089,583 (GRCm39) |
I281N |
probably damaging |
Het |
Hnrnpdl |
A |
T |
5: 100,184,371 (GRCm39) |
Y289* |
probably null |
Het |
Hsf2 |
T |
G |
10: 57,380,808 (GRCm39) |
V214G |
probably benign |
Het |
Igf2bp1 |
G |
A |
11: 95,854,373 (GRCm39) |
Q563* |
probably null |
Het |
Il31ra |
T |
A |
13: 112,660,531 (GRCm39) |
D605V |
possibly damaging |
Het |
Insm2 |
G |
A |
12: 55,646,982 (GRCm39) |
C242Y |
probably damaging |
Het |
Ints3 |
C |
T |
3: 90,322,868 (GRCm39) |
V121I |
probably benign |
Het |
Kcnt2 |
A |
T |
1: 140,278,994 (GRCm39) |
L48F |
possibly damaging |
Het |
Kit |
G |
A |
5: 75,801,200 (GRCm39) |
V529M |
probably damaging |
Het |
Mark2 |
G |
A |
19: 7,260,439 (GRCm39) |
P13S |
probably damaging |
Het |
Mthfsd |
A |
G |
8: 121,825,479 (GRCm39) |
V364A |
probably damaging |
Het |
Mtmr11 |
C |
G |
3: 96,071,636 (GRCm39) |
S185R |
probably benign |
Het |
Myot |
A |
G |
18: 44,487,281 (GRCm39) |
I373V |
probably benign |
Het |
N4bp3 |
A |
T |
11: 51,536,139 (GRCm39) |
V231D |
probably benign |
Het |
Or5t17 |
T |
C |
2: 86,832,382 (GRCm39) |
V23A |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,121 (GRCm39) |
Y278* |
probably null |
Het |
Pdcd6ip |
A |
G |
9: 113,520,610 (GRCm39) |
F125L |
probably damaging |
Het |
Prpf39 |
A |
T |
12: 65,095,051 (GRCm39) |
Q124L |
probably benign |
Het |
Reln |
A |
T |
5: 22,193,763 (GRCm39) |
N1398K |
probably damaging |
Het |
Rhod |
A |
T |
19: 4,482,122 (GRCm39) |
D97E |
probably damaging |
Het |
Rxra |
T |
C |
2: 27,647,880 (GRCm39) |
|
probably null |
Het |
Slc1a3 |
T |
C |
15: 8,672,433 (GRCm39) |
I349V |
probably benign |
Het |
Slc37a2 |
A |
T |
9: 37,142,939 (GRCm39) |
*502R |
probably null |
Het |
Slc9b1 |
T |
C |
3: 135,078,940 (GRCm39) |
I199T |
probably damaging |
Het |
Spart |
C |
T |
3: 55,024,750 (GRCm39) |
P115L |
probably damaging |
Het |
Tnpo1 |
A |
T |
13: 99,006,813 (GRCm39) |
C205S |
possibly damaging |
Het |
Tubb1 |
T |
A |
2: 174,298,657 (GRCm39) |
I113N |
probably benign |
Het |
Tyrp1 |
G |
A |
4: 80,768,954 (GRCm39) |
V483I |
probably benign |
Het |
Vwde |
T |
C |
6: 13,215,757 (GRCm39) |
S100G |
probably benign |
Het |
Zfhx3 |
A |
T |
8: 109,527,207 (GRCm39) |
I1035F |
probably damaging |
Het |
Zfp618 |
G |
T |
4: 63,051,446 (GRCm39) |
K742N |
probably damaging |
Het |
Zfp873 |
T |
C |
10: 81,896,025 (GRCm39) |
V252A |
possibly damaging |
Het |
|
Other mutations in Eef2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01303:Eef2
|
APN |
10 |
81,017,816 (GRCm39) |
splice site |
probably null |
|
IGL01303:Eef2
|
APN |
10 |
81,017,777 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01376:Eef2
|
APN |
10 |
81,013,883 (GRCm39) |
unclassified |
probably benign |
|
IGL01876:Eef2
|
APN |
10 |
81,016,104 (GRCm39) |
missense |
probably benign |
|
IGL02000:Eef2
|
APN |
10 |
81,015,845 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02514:Eef2
|
APN |
10 |
81,015,427 (GRCm39) |
missense |
probably benign |
0.11 |
IGL03087:Eef2
|
APN |
10 |
81,017,081 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03389:Eef2
|
APN |
10 |
81,015,540 (GRCm39) |
missense |
probably benign |
0.40 |
fig
|
UTSW |
10 |
81,016,126 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0052:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R0178:Eef2
|
UTSW |
10 |
81,016,126 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0445:Eef2
|
UTSW |
10 |
81,014,604 (GRCm39) |
frame shift |
probably null |
|
R0497:Eef2
|
UTSW |
10 |
81,017,420 (GRCm39) |
missense |
probably benign |
0.00 |
R0539:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R0745:Eef2
|
UTSW |
10 |
81,017,830 (GRCm39) |
missense |
probably benign |
0.00 |
R0811:Eef2
|
UTSW |
10 |
81,014,603 (GRCm39) |
frame shift |
probably null |
|
R0812:Eef2
|
UTSW |
10 |
81,014,603 (GRCm39) |
frame shift |
probably null |
|
R0832:Eef2
|
UTSW |
10 |
81,014,603 (GRCm39) |
frame shift |
probably null |
|
R1136:Eef2
|
UTSW |
10 |
81,014,603 (GRCm39) |
frame shift |
probably null |
|
R1298:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R1549:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R1550:Eef2
|
UTSW |
10 |
81,016,681 (GRCm39) |
missense |
probably benign |
0.04 |
R2869:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R2870:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R2871:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R2872:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R3408:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R3414:Eef2
|
UTSW |
10 |
81,013,692 (GRCm39) |
missense |
probably damaging |
0.98 |
R4291:Eef2
|
UTSW |
10 |
81,015,414 (GRCm39) |
missense |
probably benign |
0.00 |
R4357:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R4433:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R4577:Eef2
|
UTSW |
10 |
81,014,601 (GRCm39) |
frame shift |
probably null |
|
R5609:Eef2
|
UTSW |
10 |
81,014,603 (GRCm39) |
frame shift |
probably null |
|
R6545:Eef2
|
UTSW |
10 |
81,016,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R6650:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R7326:Eef2
|
UTSW |
10 |
81,017,116 (GRCm39) |
missense |
probably benign |
0.26 |
R7472:Eef2
|
UTSW |
10 |
81,015,384 (GRCm39) |
missense |
probably benign |
0.01 |
R7579:Eef2
|
UTSW |
10 |
81,014,602 (GRCm39) |
frame shift |
probably null |
|
R8013:Eef2
|
UTSW |
10 |
81,014,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8143:Eef2
|
UTSW |
10 |
81,017,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R8783:Eef2
|
UTSW |
10 |
81,015,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R8949:Eef2
|
UTSW |
10 |
81,014,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R9017:Eef2
|
UTSW |
10 |
81,015,487 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9115:Eef2
|
UTSW |
10 |
81,014,603 (GRCm39) |
frame shift |
probably null |
|
R9158:Eef2
|
UTSW |
10 |
81,014,693 (GRCm39) |
unclassified |
probably benign |
|
R9233:Eef2
|
UTSW |
10 |
81,014,668 (GRCm39) |
missense |
probably benign |
0.26 |
R9435:Eef2
|
UTSW |
10 |
81,014,994 (GRCm39) |
missense |
probably benign |
0.07 |
R9765:Eef2
|
UTSW |
10 |
81,015,010 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1088:Eef2
|
UTSW |
10 |
81,017,723 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Eef2
|
UTSW |
10 |
81,016,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGTGCTTGTGTACATTTCACAG -3'
(R):5'- TTCCGTCATCATGGTGGGTC -3'
Sequencing Primer
(F):5'- CAAAACATACGTGGTCTTCAGG -3'
(R):5'- CATCATGGTGGGTCAGAGATTCCC -3'
|
Posted On |
2016-06-21 |