Incidental Mutation 'IGL01376:Eef2'
| ID |
78741 |
| 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 # |
IGL01376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 81013883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047864]
[ENSMUST00000056086]
[ENSMUST00000178422]
|
| AlphaFold |
P58252 |
| Predicted Effect |
probably benign
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: ENSMUST00000219497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
| Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
| Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
| Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
| Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
| Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
| Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
| Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
| Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
| Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
| Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
| Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
| Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
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 |
|
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 |
|
|
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 |
2013-11-05 |
Incidental Mutation