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]
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Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
G |
17: 31,283,428 (GRCm39) |
S38A |
probably benign |
Het |
Alkbh1 |
T |
G |
12: 87,478,197 (GRCm39) |
D238A |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,529,220 (GRCm39) |
D1531E |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,056,784 (GRCm39) |
I3152F |
probably damaging |
Het |
Cacng3 |
G |
T |
7: 122,271,180 (GRCm39) |
G62W |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,958,093 (GRCm39) |
I625V |
probably benign |
Het |
Ces5a |
T |
C |
8: 94,228,898 (GRCm39) |
N444S |
possibly damaging |
Het |
Chst13 |
A |
T |
6: 90,286,193 (GRCm39) |
Y256* |
probably null |
Het |
Clcn5 |
T |
A |
X: 7,044,613 (GRCm39) |
H177L |
probably benign |
Het |
Dars1 |
G |
A |
1: 128,341,427 (GRCm39) |
R63C |
probably damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,677,572 (GRCm39) |
S84G |
probably benign |
Het |
Dcxr |
T |
C |
11: 120,617,298 (GRCm39) |
N82D |
probably damaging |
Het |
Efhc1 |
G |
A |
1: 21,037,715 (GRCm39) |
M297I |
probably benign |
Het |
Etfb |
G |
T |
7: 43,101,897 (GRCm39) |
V64F |
probably damaging |
Het |
Fam135b |
A |
C |
15: 71,334,637 (GRCm39) |
N852K |
probably benign |
Het |
Gigyf2 |
T |
C |
1: 87,376,790 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
C |
9: 4,513,288 (GRCm39) |
K274E |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,525,553 (GRCm39) |
S200T |
probably benign |
Het |
Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
Med12l |
C |
T |
3: 59,208,788 (GRCm39) |
Q2139* |
probably null |
Het |
Plxna4 |
A |
G |
6: 32,155,337 (GRCm39) |
F1536L |
possibly damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,329 (GRCm39) |
Q100L |
probably damaging |
Het |
Rmnd5a |
A |
G |
6: 71,370,119 (GRCm39) |
I389T |
probably damaging |
Het |
Rnf128 |
T |
G |
X: 138,511,985 (GRCm39) |
V144G |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,378,109 (GRCm39) |
T486A |
possibly damaging |
Het |
Rps6kc1 |
T |
C |
1: 190,604,026 (GRCm39) |
T199A |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,343,854 (GRCm39) |
D1338V |
unknown |
Het |
Slc35g2 |
A |
T |
9: 100,434,699 (GRCm39) |
I324K |
possibly damaging |
Het |
Slc4a5 |
G |
A |
6: 83,238,507 (GRCm39) |
R225H |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,793,636 (GRCm39) |
H113Q |
probably damaging |
Het |
Stpg2 |
A |
C |
3: 139,014,970 (GRCm39) |
K378N |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,066,422 (GRCm39) |
|
probably benign |
Het |
Utp11 |
T |
C |
4: 124,573,521 (GRCm39) |
K218E |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,315,819 (GRCm39) |
I667F |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,048,016 (GRCm39) |
L1763P |
probably damaging |
Het |
Wnt2 |
A |
G |
6: 17,989,959 (GRCm39) |
Y313H |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,923,229 (GRCm39) |
S676P |
probably benign |
Het |
Zfp747l1 |
A |
G |
7: 126,984,811 (GRCm39) |
|
probably benign |
Het |
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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 |
|
IGL02717:Eef1a2
|
APN |
2 |
180,794,694 (GRCm39) |
missense |
probably benign |
|
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 |
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