Incidental Mutation 'IGL03389:Eef2'
| ID |
421000 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL03389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81015540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 354
(I354V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000047864]
[ENSMUST00000056086]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219850]
[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 benign
Transcript: ENSMUST00000047864
AA Change: I354V
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
AA Change: I354V
| 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 |
probably benign
Transcript: ENSMUST00000218157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
| 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 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
| Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
| Amz1 |
C |
A |
5: 140,737,782 (GRCm39) |
F347L |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,809,179 (GRCm39) |
Y48C |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
| Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,956,558 (GRCm39) |
I184F |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
| Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
| Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
| Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
| Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,320 (GRCm39) |
T228I |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,273,613 (GRCm39) |
F122S |
probably damaging |
Het |
| Lss |
G |
A |
10: 76,372,173 (GRCm39) |
R176H |
probably damaging |
Het |
| Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
| Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
probably benign |
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 |
|
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 |
|
|
R5154: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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation