Incidental Mutation 'IGL03165:Eif2a'
| ID |
411604 |
| 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 # |
IGL03165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
58433252-58464922 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 58456049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 349
(Y349*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029387]
[ENSMUST00000135876]
[ENSMUST00000138848]
[ENSMUST00000154219]
|
| AlphaFold |
Q8BJW6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029387
AA Change: Y349*
|
| SMART Domains |
Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: Y349*
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
| C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
| Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
| Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
| Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
| Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
| Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
| Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
| Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
| Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
| Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
| Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
| Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
| Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
| Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
| Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
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 |
|
IGL03086:Eif2a
|
APN |
3 |
58,448,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
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