Incidental Mutation 'R0445:Eef2'
| ID |
66519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| MMRRC Submission |
038646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R0445 (G1)
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
C to CN
at 81014604 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 |
probably benign
Transcript: ENSMUST00000219133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
100% (77/77) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
C |
17: 48,400,542 (GRCm39) |
|
probably null |
Het |
| A2m |
C |
T |
6: 121,634,914 (GRCm39) |
T687I |
probably damaging |
Het |
| Acsbg1 |
A |
G |
9: 54,523,179 (GRCm39) |
S483P |
probably damaging |
Het |
| Adam22 |
T |
A |
5: 8,230,591 (GRCm39) |
|
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,490,509 (GRCm39) |
V595A |
possibly damaging |
Het |
| Aplf |
A |
T |
6: 87,640,734 (GRCm39) |
L71I |
probably damaging |
Het |
| Arid3c |
G |
T |
4: 41,725,172 (GRCm39) |
P292T |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,054,214 (GRCm39) |
V3111A |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,908,191 (GRCm39) |
Y213* |
probably null |
Het |
| C87436 |
T |
A |
6: 86,426,832 (GRCm39) |
S332T |
possibly damaging |
Het |
| Cad |
G |
A |
5: 31,230,053 (GRCm39) |
A1454T |
probably benign |
Het |
| Cdkn3 |
T |
C |
14: 47,004,857 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
G |
8: 96,486,836 (GRCm39) |
C624R |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,411,738 (GRCm39) |
I541F |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,095,503 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,573,703 (GRCm39) |
I753N |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,057,399 (GRCm39) |
V1826D |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,711 (GRCm39) |
Y755C |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,574,989 (GRCm39) |
N694K |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,667 (GRCm39) |
H300R |
probably benign |
Het |
| Galnt5 |
C |
A |
2: 57,888,962 (GRCm39) |
F187L |
probably benign |
Het |
| Gm17067 |
A |
G |
7: 42,358,046 (GRCm39) |
I152T |
probably benign |
Het |
| Gnb3 |
T |
C |
6: 124,814,218 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gpr155 |
G |
A |
2: 73,200,488 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,076,777 (GRCm39) |
I240T |
probably damaging |
Het |
| Ifitm1 |
A |
T |
7: 140,548,354 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
T |
4: 149,272,466 (GRCm39) |
L1455Q |
probably benign |
Het |
| Krt1 |
A |
C |
15: 101,756,056 (GRCm39) |
L388R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,426,505 (GRCm39) |
K635* |
probably null |
Het |
| Map3k2 |
A |
G |
18: 32,350,263 (GRCm39) |
Y371C |
probably damaging |
Het |
| Mcu |
T |
C |
10: 59,292,467 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
C |
T |
6: 39,381,788 (GRCm39) |
V167I |
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,198 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,395 (GRCm39) |
Y547C |
possibly damaging |
Het |
| Nup88 |
G |
A |
11: 70,838,555 (GRCm39) |
T487I |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,890,161 (GRCm39) |
R7457H |
unknown |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or2y13 |
T |
A |
11: 49,414,784 (GRCm39) |
V78E |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,113 (GRCm39) |
S118P |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,840,205 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,178,381 (GRCm39) |
Y157F |
probably damaging |
Het |
| Pex10 |
G |
A |
4: 155,153,531 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,827,244 (GRCm39) |
|
probably benign |
Het |
| Polr3a |
G |
T |
14: 24,504,989 (GRCm39) |
D1090E |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,255,027 (GRCm39) |
L276R |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,626,736 (GRCm39) |
L263S |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,696,399 (GRCm39) |
D967G |
probably benign |
Het |
| Shc1 |
G |
T |
3: 89,333,844 (GRCm39) |
A226S |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,245,192 (GRCm39) |
V585A |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,677,184 (GRCm39) |
S461T |
probably benign |
Het |
| Tbkbp1 |
A |
T |
11: 97,040,295 (GRCm39) |
S40T |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,715,720 (GRCm39) |
M25T |
probably benign |
Het |
| Themis |
A |
G |
10: 28,658,007 (GRCm39) |
R192G |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,661 (GRCm39) |
T206A |
probably benign |
Het |
| Tmem74b |
G |
A |
2: 151,548,879 (GRCm39) |
R202H |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,894,590 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,230,785 (GRCm39) |
H557R |
probably benign |
Het |
| Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
| Zfp143 |
A |
T |
7: 109,660,324 (GRCm39) |
|
probably benign |
Het |
| Zftraf1 |
T |
C |
15: 76,532,457 (GRCm39) |
H217R |
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 |
|
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