Incidental Mutation 'R0577:Eef1g'
ID |
56280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eef1g
|
Ensembl Gene |
ENSMUSG00000071644 |
Gene Name |
eukaryotic translation elongation factor 1 gamma |
Synonyms |
2610301D06Rik, EF1G |
MMRRC Submission |
038767-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R0577 (G1)
|
Quality Score |
199 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
8944405-8955544 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8950406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 264
(D264G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052248]
|
AlphaFold |
Q9D8N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052248
AA Change: D264G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000093955 Gene: ENSMUSG00000071644 AA Change: D264G
Domain | Start | End | E-Value | Type |
Pfam:GST_N
|
2 |
81 |
1.5e-25 |
PFAM |
Pfam:GST_N_3
|
6 |
83 |
1.4e-8 |
PFAM |
Pfam:GST_C_3
|
88 |
194 |
8.3e-13 |
PFAM |
Pfam:GST_C
|
106 |
198 |
4.5e-22 |
PFAM |
Pfam:GST_C_2
|
125 |
191 |
8.6e-12 |
PFAM |
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
EF1G
|
275 |
381 |
3.63e-78 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127480
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128626
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135025
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152076
|
Meta Mutation Damage Score |
0.1742 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
97% (30/31) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
Other mutations in Eef1g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1871:Eef1g
|
UTSW |
19 |
8,955,330 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3946:Eef1g
|
UTSW |
19 |
8,947,341 (GRCm39) |
missense |
probably benign |
0.23 |
R4698:Eef1g
|
UTSW |
19 |
8,955,330 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6112:Eef1g
|
UTSW |
19 |
8,954,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6672:Eef1g
|
UTSW |
19 |
8,944,411 (GRCm39) |
splice site |
probably null |
|
R6944:Eef1g
|
UTSW |
19 |
8,945,656 (GRCm39) |
missense |
probably benign |
|
R7665:Eef1g
|
UTSW |
19 |
8,945,653 (GRCm39) |
missense |
probably benign |
0.19 |
R7725:Eef1g
|
UTSW |
19 |
8,955,427 (GRCm39) |
missense |
probably benign |
0.00 |
R7836:Eef1g
|
UTSW |
19 |
8,954,738 (GRCm39) |
missense |
probably benign |
0.10 |
R9139:Eef1g
|
UTSW |
19 |
8,955,383 (GRCm39) |
missense |
probably benign |
|
R9613:Eef1g
|
UTSW |
19 |
8,955,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCAACCCTTTGACTTGCATAGCC -3'
(R):5'- AACCTGGACACATGAGACCTGGAC -3'
Sequencing Primer
(F):5'- TTGTTCACCCAGAGAACGTG -3'
(R):5'- ggacacatgagacctggACTATAC -3'
|
Posted On |
2013-07-11 |