Incidental Mutation 'IGL02823:Eif2a'
| ID |
361099 |
| 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 # |
IGL02823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
58433252-58464922 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58456092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 364
(A364S)
|
| 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: A364S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: A364S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,410,074 (GRCm39) |
S194P |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,844,656 (GRCm39) |
D1488E |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,887,953 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,047,644 (GRCm39) |
V56A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,246 (GRCm39) |
Y631H |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,213,031 (GRCm39) |
C215S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,164 (GRCm39) |
H3097L |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eps8l2 |
A |
T |
7: 140,921,988 (GRCm39) |
D22V |
probably damaging |
Het |
| Fndc7 |
A |
G |
3: 108,776,487 (GRCm39) |
F432S |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,058,531 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,125,046 (GRCm39) |
K121E |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,894,656 (GRCm39) |
I713T |
possibly damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,100 (GRCm39) |
L181P |
probably damaging |
Het |
| Ksr1 |
C |
A |
11: 78,912,229 (GRCm39) |
V627L |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,877,141 (GRCm39) |
N2682D |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,694,972 (GRCm39) |
D258G |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,750,001 (GRCm39) |
H1117N |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,163,815 (GRCm39) |
A1121V |
probably damaging |
Het |
| Nlrp1a |
C |
T |
11: 70,983,249 (GRCm39) |
S1239N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,793 (GRCm39) |
M136T |
possibly damaging |
Het |
| Prkra |
G |
T |
2: 76,460,768 (GRCm39) |
A310E |
probably damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,040,416 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,846,734 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,800 (GRCm39) |
V818E |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,270 (GRCm39) |
S720G |
possibly damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,489 (GRCm39) |
T149A |
probably benign |
Het |
| Slc39a2 |
T |
A |
14: 52,132,869 (GRCm39) |
Y271N |
probably damaging |
Het |
| Sprr2d |
T |
A |
3: 92,247,734 (GRCm39) |
C58* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,083,975 (GRCm39) |
G965D |
possibly damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,120 (GRCm39) |
E1265G |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,799,257 (GRCm39) |
N389S |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,115,888 (GRCm39) |
S410P |
probably damaging |
Het |
| Vwa3b |
A |
T |
1: 37,225,985 (GRCm39) |
|
probably benign |
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 |
|
IGL03086:Eif2a
|
APN |
3 |
58,448,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-12-18 |
Incidental Mutation