Incidental Mutation 'R7579:Eef2'
| ID |
586654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| MMRRC Submission |
045633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7579 (G1)
|
| Quality Score |
165.468 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CCC to CCCC
at 81014602 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: ENSMUST00000219329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (51/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
G |
T |
7: 119,292,933 (GRCm39) |
R21L |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,286,562 (GRCm39) |
R120* |
probably null |
Het |
| Adgra3 |
C |
A |
5: 50,144,977 (GRCm39) |
A539S |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,047 (GRCm39) |
S1946P |
unknown |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,173,582 (GRCm39) |
|
probably null |
Het |
| Cfh |
T |
G |
1: 140,036,328 (GRCm39) |
D730A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,444 (GRCm39) |
H345R |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,388,294 (GRCm39) |
S614G |
possibly damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,583 (GRCm39) |
V240I |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,460 (GRCm39) |
D1200G |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,909 (GRCm39) |
S680T |
probably benign |
Het |
| Fcrlb |
T |
C |
1: 170,735,416 (GRCm39) |
|
probably null |
Het |
| Gad1 |
T |
A |
2: 70,417,476 (GRCm39) |
I253K |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,688 (GRCm39) |
D665G |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,245,648 (GRCm39) |
T400A |
probably benign |
Het |
| Gm1110 |
C |
A |
9: 26,795,122 (GRCm39) |
V455L |
possibly damaging |
Het |
| Gm11444 |
A |
G |
11: 85,741,069 (GRCm39) |
V30A |
unknown |
Het |
| Gm5134 |
T |
C |
10: 75,800,271 (GRCm39) |
S51P |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,502,883 (GRCm39) |
A327T |
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,670,019 (GRCm39) |
D34E |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,271,589 (GRCm39) |
F78L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,284,802 (GRCm39) |
C630G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,386,686 (GRCm39) |
N523I |
probably damaging |
Het |
| Klf10 |
A |
G |
15: 38,297,282 (GRCm39) |
S253P |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,594,361 (GRCm39) |
M1K |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,960,543 (GRCm39) |
G759C |
probably benign |
Het |
| Or10w3 |
T |
C |
19: 13,704,465 (GRCm39) |
L280P |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,740,176 (GRCm39) |
N5K |
probably benign |
Het |
| Or8k32 |
C |
T |
2: 86,368,872 (GRCm39) |
C127Y |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,755,197 (GRCm39) |
F22S |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,329,021 (GRCm39) |
I499V |
probably benign |
Het |
| Ptbp1 |
A |
G |
10: 79,694,954 (GRCm39) |
N94S |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,312,103 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,573,264 (GRCm39) |
P455S |
probably damaging |
Het |
| Sgcd |
C |
G |
11: 47,016,481 (GRCm39) |
G127A |
possibly damaging |
Het |
| Slc22a13 |
A |
G |
9: 119,024,226 (GRCm39) |
I336T |
possibly damaging |
Het |
| Slc25a31 |
A |
T |
3: 40,679,471 (GRCm39) |
D312V |
possibly damaging |
Het |
| Slc37a4 |
G |
A |
9: 44,312,818 (GRCm39) |
S324N |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,221,207 (GRCm39) |
V13A |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,220,371 (GRCm39) |
H907R |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,271,487 (GRCm39) |
V381G |
probably damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,271,488 (GRCm39) |
V381L |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,299,324 (GRCm39) |
D977G |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,272 (GRCm39) |
Y168* |
probably null |
Het |
| Tshz1 |
A |
T |
18: 84,032,790 (GRCm39) |
Y539* |
probably null |
Het |
| Ttll13 |
A |
G |
7: 79,907,981 (GRCm39) |
K501R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,732 (GRCm39) |
Q17116* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,840,577 (GRCm39) |
T1656A |
probably damaging |
Het |
| Vmn1r73 |
G |
T |
7: 11,491,082 (GRCm39) |
C300F |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,992,948 (GRCm39) |
K521E |
probably damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,130,885 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,907 (GRCm39) |
S361P |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,246,309 (GRCm39) |
Y114C |
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 |
|
|
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 |
|
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'- GAGTGCTTGTGTACATTTCACAGAC -3'
(R):5'- TTCCGTCATCATGGTGGGTC -3'
Sequencing Primer
(F):5'- AAAACATACGTGGTCTTCAGGC -3'
(R):5'- CATCATGGTGGGTCAGAGATTCCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation