Incidental Mutation 'R8949:Eef2'
| ID |
681527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| MMRRC Submission |
068787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81012465-81018332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81014518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 135
(V135E)
|
| 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 damaging
Transcript: ENSMUST00000047864
AA Change: V135E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
AA Change: V135E
| 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 |
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 |
probably benign
Transcript: ENSMUST00000218157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219133
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| Afm |
T |
A |
5: 90,679,374 (GRCm39) |
C289* |
probably null |
Het |
| Agpat3 |
A |
G |
10: 78,118,989 (GRCm39) |
Y202H |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,715,479 (GRCm39) |
*394R |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,091,377 (GRCm39) |
H1037Q |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,941,238 (GRCm39) |
Y1504C |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,152 (GRCm39) |
N195S |
probably benign |
Het |
| Bmpr1b |
T |
G |
3: 141,586,203 (GRCm39) |
S20R |
possibly damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,906,860 (GRCm39) |
P651L |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,026,705 (GRCm39) |
D549E |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,130 (GRCm39) |
L210P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,581,970 (GRCm39) |
R1427L |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Dhx32 |
A |
T |
7: 133,344,470 (GRCm39) |
Y46* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,059,226 (GRCm39) |
L23P |
possibly damaging |
Het |
| Eef2k |
A |
T |
7: 120,491,211 (GRCm39) |
I2F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,396,926 (GRCm39) |
|
probably null |
Het |
| Hr |
T |
C |
14: 70,795,328 (GRCm39) |
I320T |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,100,017 (GRCm39) |
I288V |
probably benign |
Het |
| Ighv1-31 |
T |
C |
12: 114,793,036 (GRCm39) |
I67V |
probably benign |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,703 (GRCm39) |
Y88C |
unknown |
Het |
| Ksr2 |
T |
C |
5: 117,823,560 (GRCm39) |
C446R |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,221,929 (GRCm39) |
W1537R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,425,405 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,882 (GRCm39) |
H288R |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,668,714 (GRCm39) |
V136A |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,432,221 (GRCm39) |
|
probably null |
Het |
| Ndufv3 |
A |
G |
17: 31,746,742 (GRCm39) |
K211E |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,158 (GRCm39) |
|
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,251,971 (GRCm39) |
E396G |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,379 (GRCm39) |
F276L |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,490 (GRCm39) |
M1K |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,976,075 (GRCm39) |
I344K |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,938,699 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,894,612 (GRCm39) |
Y544C |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,161,964 (GRCm39) |
E307G |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,931,296 (GRCm39) |
Q498H |
probably benign |
Het |
| Smpdl3b |
T |
C |
4: 132,473,814 (GRCm39) |
K84E |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,123,753 (GRCm39) |
F3086L |
probably benign |
Het |
| Spcs2 |
A |
G |
7: 99,493,923 (GRCm39) |
S186P |
probably benign |
Het |
| Speer4e2 |
C |
T |
5: 15,026,212 (GRCm39) |
|
probably null |
Het |
| Steap1 |
A |
T |
5: 5,789,940 (GRCm39) |
D24E |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,604 (GRCm39) |
E3328G |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,054 (GRCm39) |
|
probably null |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,399 (GRCm39) |
V358A |
probably benign |
Het |
| Tecrl |
C |
T |
5: 83,461,154 (GRCm39) |
R101Q |
probably benign |
Het |
| Tmem184a |
C |
A |
5: 139,791,311 (GRCm39) |
A426S |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,927,087 (GRCm39) |
D813G |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,547,182 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,975 (GRCm39) |
I547T |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,920 (GRCm39) |
D24G |
possibly damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,287 (GRCm39) |
R792H |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,944 (GRCm39) |
D338G |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,450,771 (GRCm39) |
R114C |
possibly 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 |
|
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 |
|
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'- TGGACACACTTGGAGATTTAGC -3'
(R):5'- CATAGAAGAGCTTCGCACCATG -3'
Sequencing Primer
(F):5'- CACACTTGGAGATTTAGCGCCTG -3'
(R):5'- GAAGAGCTTCGCACCATGATATTGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation