Incidental Mutation 'R6847:Eef1b2'
| ID |
534788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef1b2
|
| Ensembl Gene |
ENSMUSG00000025967 |
| Gene Name |
eukaryotic translation elongation factor 1 beta 2 |
| Synonyms |
2810017J07Rik |
| MMRRC Submission |
045021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63215990-63219645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63217648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 44
(E44G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027108]
[ENSMUST00000027111]
[ENSMUST00000050536]
[ENSMUST00000129339]
[ENSMUST00000135877]
[ENSMUST00000142062]
[ENSMUST00000168099]
[ENSMUST00000174890]
[ENSMUST00000185412]
[ENSMUST00000185732]
[ENSMUST00000185847]
[ENSMUST00000188370]
[ENSMUST00000188524]
[ENSMUST00000189664]
|
| AlphaFold |
O70251 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027111
|
| SMART Domains |
Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
8.5e-20 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
1e-11 |
PFAM |
|
NADH-G_4Fe-4S_3
|
113 |
153 |
6.5e-19 |
SMART |
|
Pfam:Molybdopterin
|
301 |
629 |
1e-76 |
PFAM |
|
Pfam:NADH_dhqG_C
|
658 |
710 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050536
|
| SMART Domains |
Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
302 |
3.9e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126795
|
| SMART Domains |
Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1aw9_1
|
4 |
62 |
8e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129339
AA Change: E85G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967
AA Change: E85G
| Domain | Start | End | E-Value | Type |
|---|
|
EF-1_beta_acid
|
103 |
130 |
2.53e-4 |
SMART |
|
EF1_GNE
|
139 |
225 |
3.86e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135877
|
| SMART Domains |
Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168099
|
| SMART Domains |
Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
4.3e-19 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
1e-11 |
PFAM |
|
NADH-G_4Fe-4S_3
|
113 |
153 |
6.5e-19 |
SMART |
|
Pfam:Molybdopterin
|
301 |
629 |
1e-76 |
PFAM |
|
Pfam:DUF1982
|
657 |
710 |
3.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174890
|
| SMART Domains |
Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WHEP
|
3 |
64 |
3e-6 |
BLAST |
|
SCOP:d1aw9_1
|
7 |
65 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185412
|
| SMART Domains |
Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
79 |
5.3e-10 |
PFAM |
|
Pfam:Fer2
|
34 |
79 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185732
|
| SMART Domains |
Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
107 |
4.4e-18 |
PFAM |
|
Pfam:Fer2
|
34 |
97 |
6.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185847
|
| SMART Domains |
Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Molybdopterin
|
1 |
60 |
5.7e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188370
|
| SMART Domains |
Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer2_4
|
29 |
96 |
1.1e-13 |
PFAM |
|
Pfam:Fer2
|
34 |
127 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188524
AA Change: E44G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967
AA Change: E44G
| Domain | Start | End | E-Value | Type |
|---|
|
EF-1_beta_acid
|
62 |
89 |
1.2e-8 |
SMART |
|
EF1_GNE
|
98 |
184 |
2.9e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189664
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,021,465 (GRCm39) |
I675T |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,797 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
T |
A |
13: 4,488,497 (GRCm39) |
C34* |
probably null |
Het |
| Akt3 |
G |
A |
1: 176,859,225 (GRCm39) |
P449S |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,602,047 (GRCm39) |
V1643E |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,295,778 (GRCm39) |
I819V |
probably damaging |
Het |
| Casp3 |
C |
T |
8: 47,089,301 (GRCm39) |
A183V |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,174,358 (GRCm39) |
D288E |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,399,281 (GRCm39) |
K2268E |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,792,857 (GRCm39) |
E164G |
probably benign |
Het |
| Cubn |
A |
C |
2: 13,449,064 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
T |
10: 128,652,656 (GRCm39) |
E571D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eml6 |
C |
T |
11: 29,768,447 (GRCm39) |
V747I |
probably benign |
Het |
| Ext1 |
T |
G |
15: 53,208,550 (GRCm39) |
Q70H |
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,303,940 (GRCm39) |
C12S |
probably damaging |
Het |
| Gbp8 |
A |
C |
5: 105,179,093 (GRCm39) |
D135E |
probably benign |
Het |
| Gm12886 |
A |
T |
4: 121,273,916 (GRCm39) |
L100* |
probably null |
Het |
| Gpatch1 |
A |
T |
7: 34,992,983 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,588,925 (GRCm39) |
M34L |
probably benign |
Het |
| Il12a |
G |
T |
3: 68,602,899 (GRCm39) |
D160Y |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,816 (GRCm39) |
L241P |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,256,610 (GRCm39) |
E195G |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,289,738 (GRCm39) |
V268A |
probably damaging |
Het |
| Lrrfip1 |
A |
T |
1: 91,032,850 (GRCm39) |
D216V |
probably damaging |
Het |
| Meis3 |
A |
G |
7: 15,917,789 (GRCm39) |
N314S |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,965,451 (GRCm39) |
I1119F |
possibly damaging |
Het |
| Nav2 |
A |
T |
7: 49,141,204 (GRCm39) |
Q916H |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,229,606 (GRCm39) |
Q22L |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,402 (GRCm39) |
I23F |
probably benign |
Het |
| P2rx4 |
G |
A |
5: 122,865,814 (GRCm39) |
V329M |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,754,279 (GRCm39) |
|
probably benign |
Het |
| Pgp |
T |
C |
17: 24,690,375 (GRCm39) |
L267P |
probably damaging |
Het |
| Pou2af2 |
G |
A |
9: 51,201,504 (GRCm39) |
T184M |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,859,520 (GRCm39) |
S1257A |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,695,164 (GRCm39) |
N1434S |
unknown |
Het |
| Psmc3ip |
A |
T |
11: 100,985,999 (GRCm39) |
H40Q |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,016,283 (GRCm39) |
N526K |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,667,249 (GRCm39) |
D138E |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,663 (GRCm39) |
N220D |
probably benign |
Het |
| Siva1 |
G |
A |
12: 112,611,344 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
A |
G |
2: 14,454,728 (GRCm39) |
H546R |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,271,468 (GRCm39) |
A497V |
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,249,859 (GRCm39) |
K95N |
probably damaging |
Het |
| Speer1a |
G |
A |
5: 11,394,134 (GRCm39) |
V78M |
probably damaging |
Het |
| Traj50 |
T |
A |
14: 54,405,101 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,813,472 (GRCm39) |
V1261A |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,566,700 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Eef1b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00852:Eef1b2
|
APN |
1 |
63,217,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00861:Eef1b2
|
APN |
1 |
63,217,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00862:Eef1b2
|
APN |
1 |
63,217,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00863:Eef1b2
|
APN |
1 |
63,217,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Eef1b2
|
APN |
1 |
63,216,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Eef1b2
|
UTSW |
1 |
63,218,616 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1210:Eef1b2
|
UTSW |
1 |
63,216,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Eef1b2
|
UTSW |
1 |
63,216,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2045:Eef1b2
|
UTSW |
1 |
63,218,646 (GRCm39) |
nonsense |
probably null |
|
|
R5129:Eef1b2
|
UTSW |
1 |
63,218,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7748:Eef1b2
|
UTSW |
1 |
63,217,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8819:Eef1b2
|
UTSW |
1 |
63,217,268 (GRCm39) |
unclassified |
probably benign |
|
|
R8995:Eef1b2
|
UTSW |
1 |
63,217,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGGGATTGTGCTAAAGG -3'
(R):5'- ATCAGGAGCTCAGCCGAAAG -3'
Sequencing Primer
(F):5'- TGGGATTGTGCTAAAGGTTAAATAAC -3'
(R):5'- CTCAGCCGAAAGAAGGTGATTTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation