Incidental Mutation 'R5609:Eef2'
| ID |
437977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| MMRRC Submission |
043158-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5609 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
C to CN
at 81014603 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 |
probably benign
Transcript: ENSMUST00000218157
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219329
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,353,874 (GRCm39) |
I3732T |
probably benign |
Het |
| Ago1 |
C |
A |
4: 126,354,830 (GRCm39) |
K127N |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,374 (GRCm39) |
N79S |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,385 (GRCm39) |
L836P |
probably damaging |
Het |
| AY358078 |
A |
G |
14: 52,042,065 (GRCm39) |
T147A |
unknown |
Het |
| Cabp4 |
T |
C |
19: 4,189,251 (GRCm39) |
D102G |
probably benign |
Het |
| Cdc34 |
C |
T |
10: 79,520,655 (GRCm39) |
R61C |
probably damaging |
Het |
| Chac1 |
A |
G |
2: 119,181,887 (GRCm39) |
K2E |
unknown |
Het |
| Cltc |
C |
T |
11: 86,621,093 (GRCm39) |
V305I |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,524,683 (GRCm39) |
T704A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,421,174 (GRCm39) |
V184A |
probably damaging |
Het |
| Daglb |
A |
T |
5: 143,464,274 (GRCm39) |
T262S |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,753,905 (GRCm39) |
I12V |
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,621,753 (GRCm39) |
V1124A |
probably benign |
Het |
| Eif3k |
C |
A |
7: 28,681,133 (GRCm39) |
A9S |
probably benign |
Het |
| Elapor1 |
T |
A |
3: 108,378,731 (GRCm39) |
I408F |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,723,038 (GRCm39) |
M60L |
possibly damaging |
Het |
| Hk1 |
C |
T |
10: 62,178,330 (GRCm39) |
E4K |
probably benign |
Het |
| Kmt2b |
C |
A |
7: 30,276,570 (GRCm39) |
V1701L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,231,807 (GRCm39) |
H1107R |
probably damaging |
Het |
| Lypd10 |
A |
T |
7: 24,413,711 (GRCm39) |
R242S |
possibly damaging |
Het |
| Ncor1 |
A |
G |
11: 62,249,679 (GRCm39) |
|
probably null |
Het |
| Or5h23 |
T |
A |
16: 58,906,439 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or6c70 |
T |
G |
10: 129,710,607 (GRCm39) |
R6S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,106,134 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
G |
T |
8: 110,251,739 (GRCm39) |
E327D |
probably damaging |
Het |
| Slc22a17 |
G |
A |
14: 55,146,427 (GRCm39) |
P63L |
probably damaging |
Het |
| Slc37a1 |
G |
A |
17: 31,556,982 (GRCm39) |
V383M |
possibly damaging |
Het |
| Slc9a9 |
T |
A |
9: 94,691,990 (GRCm39) |
Y182N |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,842,162 (GRCm39) |
D29G |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,130,446 (GRCm39) |
V319A |
possibly damaging |
Het |
| Tbc1d10c |
C |
T |
19: 4,239,881 (GRCm39) |
M76I |
possibly damaging |
Het |
| Thrb |
C |
A |
14: 18,033,526 (GRCm38) |
H416N |
probably benign |
Het |
| Timp2 |
T |
A |
11: 118,210,987 (GRCm39) |
D60V |
probably damaging |
Het |
| Ubxn6 |
C |
T |
17: 56,376,745 (GRCm39) |
E216K |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,094,527 (GRCm39) |
M1977T |
probably benign |
Het |
| Uri1 |
G |
A |
7: 37,662,954 (GRCm39) |
R347* |
probably null |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,591 (GRCm39) |
W136* |
probably null |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,102 (GRCm39) |
Y730H |
probably benign |
Het |
| Wnk4 |
C |
T |
11: 101,166,462 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,679 (GRCm39) |
N2971D |
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 |
|
|
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 |
|
|
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'- GAGAGTGCTTGTGTACATTTCAC -3'
(R):5'- TTCCGTCATCATGGTGGGTC -3'
Sequencing Primer
(F):5'- AAACATACGTGGTCTTCAGGC -3'
(R):5'- CATCATGGTGGGTCAGAGATTCCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation