Incidental Mutation 'R4577:Eef2'
ID |
342566 |
Institutional Source |
Beutler Lab
|
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 # |
R4577 (G1)
|
Quality Score |
154 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCCC to GCCCC
at 81014601 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: ENSMUST00000220076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219943
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
C |
4: 144,430,323 (GRCm39) |
I222S |
probably damaging |
Het |
Abca1 |
C |
A |
4: 53,062,568 (GRCm39) |
C1429F |
possibly damaging |
Het |
Acacb |
A |
G |
5: 114,364,892 (GRCm39) |
E1524G |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,510,090 (GRCm39) |
V759A |
probably damaging |
Het |
Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
Bnip2 |
A |
G |
9: 69,904,444 (GRCm39) |
D67G |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,277,773 (GRCm39) |
S2060T |
possibly damaging |
Het |
Cand2 |
G |
A |
6: 115,768,220 (GRCm39) |
C455Y |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,191 (GRCm39) |
D366G |
probably damaging |
Het |
Cep170b |
A |
G |
12: 112,711,152 (GRCm39) |
R595G |
probably damaging |
Het |
Chaf1a |
G |
A |
17: 56,372,184 (GRCm39) |
R784Q |
probably damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
Clca4a |
C |
A |
3: 144,660,730 (GRCm39) |
S698I |
probably damaging |
Het |
Dnah5 |
A |
C |
15: 28,289,396 (GRCm39) |
Y1195S |
probably benign |
Het |
Dynlt4 |
A |
G |
4: 116,985,812 (GRCm39) |
T212A |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,114,308 (GRCm39) |
I1229T |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
F3 |
A |
G |
3: 121,527,763 (GRCm39) |
I254V |
probably benign |
Het |
Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
Fsd1l |
T |
C |
4: 53,686,397 (GRCm39) |
F270S |
probably damaging |
Het |
Galnt3 |
T |
C |
2: 65,928,203 (GRCm39) |
Y231C |
probably benign |
Het |
Gm10220 |
A |
C |
5: 26,322,869 (GRCm39) |
I181S |
probably benign |
Het |
Gnb5 |
G |
A |
9: 75,250,823 (GRCm39) |
V316I |
possibly damaging |
Het |
Gys2 |
A |
G |
6: 142,400,236 (GRCm39) |
F325S |
possibly damaging |
Het |
Hmgn2 |
G |
A |
4: 133,694,668 (GRCm39) |
|
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Ighg2b |
T |
C |
12: 113,270,512 (GRCm39) |
E206G |
unknown |
Het |
Iqub |
A |
T |
6: 24,501,290 (GRCm39) |
I220N |
probably damaging |
Het |
Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 66,158,063 (GRCm39) |
K4R |
unknown |
Het |
Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
L3mbtl2 |
G |
A |
15: 81,570,486 (GRCm39) |
E655K |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,711,731 (GRCm39) |
C3163Y |
probably damaging |
Het |
Map3k19 |
T |
A |
1: 127,750,550 (GRCm39) |
R934* |
probably null |
Het |
Map4 |
A |
G |
9: 109,910,489 (GRCm39) |
T1061A |
possibly damaging |
Het |
Mbnl1 |
G |
A |
3: 60,437,199 (GRCm39) |
V50I |
probably damaging |
Het |
Med15 |
G |
A |
16: 17,492,379 (GRCm39) |
Q132* |
probably null |
Het |
Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
Mtmr3 |
G |
C |
11: 4,447,375 (GRCm39) |
L361V |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,124,827 (GRCm39) |
E1792G |
probably damaging |
Het |
Nup88 |
C |
A |
11: 70,860,543 (GRCm39) |
A55S |
probably damaging |
Het |
Or1ab2 |
T |
A |
8: 72,864,167 (GRCm39) |
Y252* |
probably null |
Het |
Or4a79 |
T |
C |
2: 89,552,387 (GRCm39) |
K23E |
possibly damaging |
Het |
Pacs1 |
G |
T |
19: 5,193,861 (GRCm39) |
S556* |
probably null |
Het |
Parp4 |
A |
G |
14: 56,827,867 (GRCm39) |
E206G |
probably benign |
Het |
Paxbp1 |
T |
G |
16: 90,812,042 (GRCm39) |
K889N |
probably damaging |
Het |
Pcdhga2 |
G |
A |
18: 37,802,302 (GRCm39) |
A49T |
possibly damaging |
Het |
Pcsk6 |
T |
A |
7: 65,609,014 (GRCm39) |
L292* |
probably null |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Plec |
C |
A |
15: 76,068,269 (GRCm39) |
Q1142H |
possibly damaging |
Het |
Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
Prss28 |
T |
C |
17: 25,529,079 (GRCm39) |
V140A |
probably damaging |
Het |
Rad17 |
A |
T |
13: 100,769,786 (GRCm39) |
S258T |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,336,866 (GRCm39) |
C932* |
probably null |
Het |
Sdc2 |
T |
C |
15: 33,017,278 (GRCm39) |
Y31H |
probably damaging |
Het |
Selenoh |
T |
C |
2: 84,500,675 (GRCm39) |
E55G |
possibly damaging |
Het |
Serpina3k |
T |
G |
12: 104,310,451 (GRCm39) |
V327G |
possibly damaging |
Het |
Setd1b |
A |
G |
5: 123,286,679 (GRCm39) |
E575G |
unknown |
Het |
Slco1a4 |
A |
T |
6: 141,765,266 (GRCm39) |
S325R |
probably damaging |
Het |
Smtnl1 |
C |
A |
2: 84,648,787 (GRCm39) |
V156L |
possibly damaging |
Het |
Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
Speg |
A |
G |
1: 75,392,039 (GRCm39) |
D1607G |
probably damaging |
Het |
Tmem101 |
T |
A |
11: 102,046,663 (GRCm39) |
M69L |
possibly damaging |
Het |
Treh |
G |
A |
9: 44,597,208 (GRCm39) |
M542I |
probably benign |
Het |
Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
Ttc6 |
T |
C |
12: 57,623,441 (GRCm39) |
I280T |
probably benign |
Het |
Ubtfl1 |
A |
G |
9: 18,320,789 (GRCm39) |
T106A |
probably damaging |
Het |
Wdr27 |
T |
C |
17: 15,123,724 (GRCm39) |
H583R |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,241 (GRCm39) |
P2161S |
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 |
|
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 |
PCR Primer
(F):5'- GGAGAGTGCTTGTGTACATTTCAC -3'
(R):5'- TTCCGTCATCATGGTGGGTC -3'
Sequencing Primer
(F):5'- CAAAACATACGTGGTCTTCAGG -3'
(R):5'- CATCATGGTGGGTCAGAGATTCCC -3'
|
Posted On |
2015-09-24 |