Incidental Mutation 'R0178:Eef2'
| ID |
65767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| MMRRC Submission |
038446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R0178 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81016126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 496
(V496M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000047864
AA Change: V496M
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
AA Change: V496M
| 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 |
probably benign
Transcript: ENSMUST00000219850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218698
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
| Meta Mutation Damage Score |
0.0993 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 88.8%
|
| Validation Efficiency |
95% (69/73) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
G |
14: 35,533,435 (GRCm39) |
N111T |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,081,953 (GRCm39) |
D769G |
possibly damaging |
Het |
| Adcy6 |
G |
T |
15: 98,502,096 (GRCm39) |
Q173K |
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,097,706 (GRCm39) |
A141V |
probably benign |
Het |
| Asb2 |
G |
A |
12: 103,291,811 (GRCm39) |
P324L |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,732,188 (GRCm39) |
S342P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,354,309 (GRCm39) |
T202I |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,782,098 (GRCm39) |
L214P |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,902,776 (GRCm39) |
D489V |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,644,905 (GRCm39) |
|
probably benign |
Het |
| Chct1 |
A |
G |
11: 85,069,264 (GRCm39) |
H94R |
probably benign |
Het |
| Chrnb3 |
T |
A |
8: 27,883,392 (GRCm39) |
V111D |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,786 (GRCm39) |
R60G |
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cyp2r1 |
T |
C |
7: 114,149,643 (GRCm39) |
E248G |
probably damaging |
Het |
| Dnaaf11 |
A |
C |
15: 66,325,950 (GRCm39) |
D208E |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,516,938 (GRCm39) |
T536A |
probably benign |
Het |
| Fam118a |
T |
C |
15: 84,930,081 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,509,763 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
A |
C |
4: 141,682,651 (GRCm39) |
F497V |
probably benign |
Het |
| Gbe1 |
G |
A |
16: 70,275,274 (GRCm39) |
G358D |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,646,058 (GRCm39) |
D69G |
probably damaging |
Het |
| Ggt6 |
A |
G |
11: 72,327,644 (GRCm39) |
H150R |
possibly damaging |
Het |
| Gm45713 |
A |
T |
7: 44,783,882 (GRCm39) |
L110Q |
probably damaging |
Het |
| Gm9847 |
T |
C |
12: 14,544,649 (GRCm39) |
|
noncoding transcript |
Het |
| Grwd1 |
T |
C |
7: 45,480,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Gvin3 |
A |
T |
7: 106,201,028 (GRCm39) |
Y739N |
probably damaging |
Het |
| H13 |
A |
G |
2: 152,522,987 (GRCm39) |
Y100C |
probably damaging |
Het |
| Kcne1 |
A |
C |
16: 92,145,697 (GRCm39) |
M49R |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,888,886 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,565 (GRCm39) |
I150M |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,630,841 (GRCm39) |
V300E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,919 (GRCm39) |
C3606S |
probably damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,104,917 (GRCm39) |
I16T |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
| Myot |
T |
C |
18: 44,470,053 (GRCm39) |
F10S |
probably damaging |
Het |
| Nrg3 |
A |
T |
14: 38,098,413 (GRCm39) |
H480Q |
probably damaging |
Het |
| Or52b2 |
G |
A |
7: 104,986,129 (GRCm39) |
R265C |
probably benign |
Het |
| Or5ac23 |
A |
T |
16: 59,149,783 (GRCm39) |
F30I |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,366,390 (GRCm39) |
D220V |
probably damaging |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,172 (GRCm39) |
I376T |
probably damaging |
Het |
| Sh2d2a |
A |
T |
3: 87,756,730 (GRCm39) |
T192S |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,106 (GRCm39) |
Y417H |
possibly damaging |
Het |
| Slc6a1 |
T |
G |
6: 114,281,813 (GRCm39) |
I32S |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,540 (GRCm39) |
T150A |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,665,791 (GRCm39) |
C1183* |
probably null |
Het |
| Tmprss7 |
C |
A |
16: 45,511,206 (GRCm39) |
W57C |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,911,440 (GRCm39) |
V36E |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,242,630 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
C |
T |
5: 106,784,771 (GRCm39) |
C592Y |
probably 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 |
|
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2013-08-19 |
Incidental Mutation