Incidental Mutation 'IGL02717:Eef1a2'
| ID |
304805 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eef1a2
|
| Ensembl Gene |
ENSMUSG00000016349 |
| Gene Name |
eukaryotic translation elongation factor 1 alpha 2 |
| Synonyms |
S1, Eef1a |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180789446-180798807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 180794694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 168
(D168E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055990]
|
| AlphaFold |
P62631 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055990
AA Change: D168E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: D168E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GTP_EFTU
|
5 |
238 |
5.3e-56 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
260 |
327 |
1.5e-15 |
PFAM |
|
Pfam:GTP_EFTU_D3
|
333 |
442 |
8.4e-42 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
G |
A |
14: 54,499,079 (GRCm39) |
|
probably benign |
Het |
| Adgra1 |
A |
T |
7: 139,456,094 (GRCm39) |
N574I |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
| B4gat1 |
C |
A |
19: 5,088,997 (GRCm39) |
|
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,410,801 (GRCm39) |
R429* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,223 (GRCm39) |
N423S |
probably damaging |
Het |
| Eif4g2 |
A |
G |
7: 110,677,320 (GRCm39) |
I205T |
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,845,763 (GRCm39) |
I409V |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,781,370 (GRCm39) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,043,559 (GRCm39) |
T52A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,279,203 (GRCm39) |
L37* |
probably null |
Het |
| Hoxc4 |
A |
G |
15: 102,943,273 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ifna16 |
T |
C |
4: 88,594,777 (GRCm39) |
D106G |
possibly damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,005,666 (GRCm39) |
T498K |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,282,869 (GRCm39) |
T1031M |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,631,104 (GRCm39) |
R297L |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,439,116 (GRCm39) |
I46N |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,856,213 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,843,102 (GRCm39) |
V212E |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,315 (GRCm39) |
T4A |
probably benign |
Het |
| Saxo5 |
C |
T |
8: 3,536,970 (GRCm39) |
R439C |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,358,076 (GRCm39) |
T722S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,392,439 (GRCm39) |
V332I |
possibly damaging |
Het |
| Taar7b |
T |
C |
10: 23,876,258 (GRCm39) |
I141T |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,601 (GRCm39) |
Y104C |
probably damaging |
Het |
|
| Other mutations in Eef1a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00741:Eef1a2
|
APN |
2 |
180,794,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02098:Eef1a2
|
APN |
2 |
180,794,582 (GRCm39) |
missense |
probably benign |
|
|
IGL03264:Eef1a2
|
APN |
2 |
180,790,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03308:Eef1a2
|
APN |
2 |
180,790,629 (GRCm39) |
splice site |
probably benign |
|
|
R1680:Eef1a2
|
UTSW |
2 |
180,794,734 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2140:Eef1a2
|
UTSW |
2 |
180,790,535 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3877:Eef1a2
|
UTSW |
2 |
180,794,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4706:Eef1a2
|
UTSW |
2 |
180,797,150 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4902:Eef1a2
|
UTSW |
2 |
180,789,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5846:Eef1a2
|
UTSW |
2 |
180,794,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6250:Eef1a2
|
UTSW |
2 |
180,792,853 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6864:Eef1a2
|
UTSW |
2 |
180,791,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6991:Eef1a2
|
UTSW |
2 |
180,790,421 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9153:Eef1a2
|
UTSW |
2 |
180,789,774 (GRCm39) |
makesense |
probably null |
|
|
X0027:Eef1a2
|
UTSW |
2 |
180,792,829 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Posted On |
2015-04-16 |
Incidental Mutation