Incidental Mutation 'R6672:Eef1g'
| ID |
527183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef1g
|
| Ensembl Gene |
ENSMUSG00000071644 |
| Gene Name |
eukaryotic translation elongation factor 1 gamma |
| Synonyms |
2610301D06Rik, EF1G |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
93.0077 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8944405-8955544 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 8944411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052248]
[ENSMUST00000096239]
|
| AlphaFold |
Q9D8N0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052248
|
| SMART Domains |
Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644
| 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 |
probably benign
Transcript: ENSMUST00000096239
|
| SMART Domains |
Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
16 |
40 |
1.53e-1 |
SMART |
|
RRM
|
57 |
124 |
2.02e-10 |
SMART |
|
SCOP:d1f5aa2
|
173 |
221 |
1e-3 |
SMART |
|
low complexity region
|
242 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:PAP_assoc
|
493 |
552 |
2.7e-8 |
PFAM |
|
low complexity region
|
594 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152076
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| 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 |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably damaging |
Het |
|
| Other mutations in Eef1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0577:Eef1g
|
UTSW |
19 |
8,950,406 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
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'- GTAAATTGCCACCCCTTCCTTAAG -3'
(R):5'- TGGTGATTCCGCAGAGAAAG -3'
Sequencing Primer
(F):5'- TTGTCACGGGTTCCAGATACCAG -3'
(R):5'- TTCCGCAGAGAAAGGGGGTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation