Incidental Mutation 'R9017:Eef2'
| ID |
686082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef2
|
| Ensembl Gene |
ENSMUSG00000034994 |
| Gene Name |
eukaryotic translation elongation factor 2 |
| Synonyms |
Ef-2 |
| MMRRC Submission |
068847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R9017 (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 C
at 81015487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 336
(L336P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047665]
[ENSMUST00000047864]
[ENSMUST00000056086]
[ENSMUST00000178422]
[ENSMUST00000218157]
[ENSMUST00000219133]
[ENSMUST00000219850]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000047864
AA Change: L336P
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
AA Change: L336P
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219850
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
T |
C |
16: 56,553,211 (GRCm39) |
T629A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,542,550 (GRCm39) |
V632A |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,987,487 (GRCm39) |
E2924K |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,786 (GRCm39) |
Y232C |
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,275,841 (GRCm39) |
N130K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,584,256 (GRCm39) |
|
probably null |
Het |
| Cep70 |
T |
C |
9: 99,181,829 (GRCm39) |
I613T |
possibly damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,883 (GRCm39) |
V3056I |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,386,282 (GRCm39) |
F143L |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,228,572 (GRCm39) |
R2172H |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,657,898 (GRCm39) |
E424G |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,880,477 (GRCm39) |
E237G |
probably benign |
Het |
| Ctnnd2 |
G |
A |
15: 30,881,316 (GRCm39) |
C732Y |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,299,411 (GRCm39) |
N264S |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,743,349 (GRCm39) |
S1064G |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,176,968 (GRCm39) |
Y360N |
probably damaging |
Het |
| E2f3 |
T |
G |
13: 30,097,478 (GRCm39) |
D295A |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,035,307 (GRCm39) |
S213P |
possibly damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,903 (GRCm39) |
S375T |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,416,206 (GRCm39) |
V222I |
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,568,858 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Gpr55 |
T |
C |
1: 85,868,624 (GRCm39) |
N319S |
probably benign |
Het |
| Grik2 |
T |
A |
10: 48,989,555 (GRCm39) |
I825F |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,482 (GRCm39) |
S230P |
unknown |
Het |
| Kansl3 |
T |
C |
1: 36,393,861 (GRCm39) |
I222V |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,203 (GRCm39) |
S822P |
probably benign |
Het |
| Kremen2 |
T |
A |
17: 23,964,737 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
G |
T |
15: 101,651,100 (GRCm39) |
R128S |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,324,397 (GRCm39) |
N1244I |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,244 (GRCm39) |
S600G |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,216,711 (GRCm39) |
C167S |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,857 (GRCm39) |
V17A |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,614,840 (GRCm39) |
L179Q |
unknown |
Het |
| Or13g1 |
A |
T |
7: 85,955,957 (GRCm39) |
Y121* |
probably null |
Het |
| Or13p8 |
T |
A |
4: 118,583,565 (GRCm39) |
F40L |
probably benign |
Het |
| Or4c29 |
G |
T |
2: 88,739,951 (GRCm39) |
T262K |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,214,431 (GRCm39) |
F63L |
probably benign |
Het |
| Pde3b |
C |
T |
7: 114,015,695 (GRCm39) |
Q304* |
probably null |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
A |
G |
8: 106,105,332 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ppargc1a |
C |
A |
5: 51,630,251 (GRCm39) |
R622L |
unknown |
Het |
| Ppip5k2 |
A |
G |
1: 97,655,139 (GRCm39) |
L879P |
probably damaging |
Het |
| Prepl |
C |
T |
17: 85,376,366 (GRCm39) |
V563M |
possibly damaging |
Het |
| Prom1 |
G |
T |
5: 44,204,870 (GRCm39) |
D201E |
probably damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,231 (GRCm39) |
D723E |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,550,719 (GRCm39) |
N825K |
possibly damaging |
Het |
| Sds |
A |
T |
5: 120,618,655 (GRCm39) |
M70L |
probably benign |
Het |
| Sema4c |
C |
T |
1: 36,592,079 (GRCm39) |
R256H |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,070,545 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,138,588 (GRCm39) |
I452F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,062,395 (GRCm39) |
I162V |
possibly damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tenm3 |
T |
A |
8: 48,707,668 (GRCm39) |
N1710I |
probably damaging |
Het |
| Tmem115 |
T |
A |
9: 107,411,880 (GRCm39) |
M68K |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 127,866,936 (GRCm39) |
I655V |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,346,316 (GRCm39) |
I69V |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Trim9 |
A |
G |
12: 70,314,013 (GRCm39) |
M544T |
probably benign |
Het |
| Ttll3 |
G |
A |
6: 113,389,850 (GRCm39) |
R745H |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,737,931 (GRCm39) |
L4249I |
unknown |
Het |
| Unc79 |
G |
A |
12: 103,074,874 (GRCm39) |
|
probably null |
Het |
| Vmn1r196 |
T |
C |
13: 22,478,254 (GRCm39) |
C298R |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,081 (GRCm39) |
I255V |
probably benign |
Het |
| Zfp853 |
A |
G |
5: 143,274,243 (GRCm39) |
L474P |
unknown |
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 |
|
R8949:Eef2
|
UTSW |
10 |
81,014,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTTCAAGGTGGGTAAGCTG -3'
(R):5'- GAAATCGAGTCACCTGGTTGC -3'
Sequencing Primer
(F):5'- TAAGCTGTGGTCCTGGCC -3'
(R):5'- AGTCACCTGGTTGCCAAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation