Incidental Mutation 'IGL03086:Eif2a'
| ID |
418103 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2a
|
| Ensembl Gene |
ENSMUSG00000027810 |
| Gene Name |
eukaryotic translation initiation factor 2A |
| Synonyms |
D3Ertd194e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
58433252-58464922 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58448538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 124
(I124V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029387]
[ENSMUST00000135876]
[ENSMUST00000138848]
[ENSMUST00000154219]
|
| AlphaFold |
Q8BJW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029387
AA Change: I124V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: I124V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
Pfam:eIF2A
|
216 |
411 |
1e-77 |
PFAM |
|
low complexity region
|
488 |
502 |
N/A |
INTRINSIC |
|
coiled coil region
|
528 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138848
AA Change: I107V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: I107V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kb0a2
|
27 |
160 |
5e-9 |
SMART |
|
Pfam:eIF2A
|
199 |
251 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154219
|
| 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 a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with no visible phenotypes. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(51) : Targeted, other(2) Gene trapped(49)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
G |
1: 72,682,437 (GRCm39) |
I1158T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,621,249 (GRCm39) |
S868P |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,833,127 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
T |
7: 24,200,240 (GRCm39) |
N250Y |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,649 (GRCm39) |
E75G |
possibly damaging |
Het |
| Cdc23 |
A |
C |
18: 34,770,239 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,400,621 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,960,061 (GRCm39) |
|
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,154,788 (GRCm39) |
V73M |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,961,754 (GRCm39) |
L2297P |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,960,951 (GRCm39) |
I226K |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,191,814 (GRCm39) |
Y331* |
probably null |
Het |
| Helq |
T |
C |
5: 100,944,793 (GRCm39) |
T106A |
possibly damaging |
Het |
| Ly9 |
A |
T |
1: 171,432,738 (GRCm39) |
Y92N |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,415,666 (GRCm39) |
C1256Y |
probably damaging |
Het |
| Ndc80 |
G |
A |
17: 71,827,920 (GRCm39) |
T104I |
probably benign |
Het |
| Or1x2 |
T |
A |
11: 50,918,557 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2y1d |
A |
G |
11: 49,321,632 (GRCm39) |
T110A |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,549,613 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5e1 |
A |
T |
7: 108,355,003 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,969,273 (GRCm39) |
N679S |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,911,411 (GRCm39) |
R2382K |
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,590,468 (GRCm39) |
R672Q |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,945 (GRCm39) |
N197S |
probably damaging |
Het |
| Sirpb1a |
C |
A |
3: 15,491,388 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,054,856 (GRCm39) |
D832E |
probably benign |
Het |
| Slc13a1 |
G |
A |
6: 24,118,002 (GRCm39) |
A245V |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,633 (GRCm39) |
D635G |
probably damaging |
Het |
| Utp18 |
T |
C |
11: 93,766,882 (GRCm39) |
Q275R |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,058,692 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,342,338 (GRCm39) |
V36A |
probably damaging |
Het |
|
| Other mutations in Eif2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02323:Eif2a
|
APN |
3 |
58,456,024 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02823:Eif2a
|
APN |
3 |
58,456,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03165:Eif2a
|
APN |
3 |
58,456,049 (GRCm39) |
nonsense |
probably null |
|
|
1mM(1):Eif2a
|
UTSW |
3 |
58,452,724 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
PIT4576001:Eif2a
|
UTSW |
3 |
58,452,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Eif2a
|
UTSW |
3 |
58,463,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0607:Eif2a
|
UTSW |
3 |
58,463,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1061:Eif2a
|
UTSW |
3 |
58,452,486 (GRCm39) |
nonsense |
probably null |
|
|
R1499:Eif2a
|
UTSW |
3 |
58,445,005 (GRCm39) |
nonsense |
probably null |
|
|
R1922:Eif2a
|
UTSW |
3 |
58,455,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Eif2a
|
UTSW |
3 |
58,446,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4017:Eif2a
|
UTSW |
3 |
58,452,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Eif2a
|
UTSW |
3 |
58,447,050 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5528:Eif2a
|
UTSW |
3 |
58,455,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:Eif2a
|
UTSW |
3 |
58,464,517 (GRCm39) |
splice site |
probably null |
|
|
R7081:Eif2a
|
UTSW |
3 |
58,449,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7414:Eif2a
|
UTSW |
3 |
58,433,502 (GRCm39) |
nonsense |
probably null |
|
|
R7447:Eif2a
|
UTSW |
3 |
58,452,963 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7497:Eif2a
|
UTSW |
3 |
58,456,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Eif2a
|
UTSW |
3 |
58,459,991 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8205:Eif2a
|
UTSW |
3 |
58,456,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Eif2a
|
UTSW |
3 |
58,456,049 (GRCm39) |
nonsense |
probably null |
|
|
R9103:Eif2a
|
UTSW |
3 |
58,452,461 (GRCm39) |
missense |
|
|
|
R9165:Eif2a
|
UTSW |
3 |
58,452,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Eif2a
|
UTSW |
3 |
58,463,022 (GRCm39) |
missense |
probably benign |
|
|
R9280:Eif2a
|
UTSW |
3 |
58,447,009 (GRCm39) |
intron |
probably benign |
|
|
R9492:Eif2a
|
UTSW |
3 |
58,448,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9524:Eif2a
|
UTSW |
3 |
58,448,467 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Eif2a
|
UTSW |
3 |
58,456,305 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Eif2a
|
UTSW |
3 |
58,438,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation