Incidental Mutation 'PIT4576001:Eif2a'
| ID |
556363 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4576001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
58433252-58464922 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58452974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 250
(Y250H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029387]
[ENSMUST00000135876]
[ENSMUST00000138848]
[ENSMUST00000154219]
|
| AlphaFold |
Q8BJW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029387
AA Change: Y250H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: Y250H
| 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 |
probably damaging
Transcript: ENSMUST00000138848
AA Change: Y233H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: Y233H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kb0a2
|
27 |
160 |
5e-9 |
SMART |
|
Pfam:eIF2A
|
199 |
251 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154219
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 72.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,929,983 (GRCm39) |
S73P |
probably damaging |
Het |
| 5730596B20Rik |
G |
T |
6: 52,156,449 (GRCm39) |
V172F |
unknown |
Het |
| Brms1 |
A |
G |
19: 5,096,229 (GRCm39) |
K69E |
probably damaging |
Het |
| Calr4 |
A |
C |
4: 109,093,053 (GRCm39) |
Q44H |
possibly damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,823,071 (GRCm39) |
T1242I |
probably benign |
Het |
| Dyrk3 |
A |
G |
1: 131,057,918 (GRCm39) |
V85A |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,572,093 (GRCm39) |
E749G |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,477,682 (GRCm39) |
I2243V |
probably damaging |
Het |
| Gh |
A |
T |
11: 106,191,659 (GRCm39) |
F128I |
possibly damaging |
Het |
| Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,041,763 (GRCm39) |
Y150H |
probably damaging |
Het |
| H2ac15 |
C |
A |
13: 21,937,781 (GRCm39) |
D73Y |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,234,903 (GRCm39) |
S452P |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,367,114 (GRCm39) |
E2549G |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,195,380 (GRCm39) |
A41V |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,955,850 (GRCm39) |
K1201M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,224,543 (GRCm39) |
S906P |
probably damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,874 (GRCm39) |
V98A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,581,889 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pfdn2 |
A |
G |
1: 171,173,310 (GRCm39) |
S11G |
unknown |
Het |
| Prdm1 |
T |
C |
10: 44,334,504 (GRCm39) |
M1V |
probably null |
Het |
| Prelp |
A |
G |
1: 133,842,903 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prss12 |
T |
C |
3: 123,280,764 (GRCm39) |
V483A |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,656,955 (GRCm39) |
V154L |
probably damaging |
Het |
| Ptpru |
G |
A |
4: 131,529,855 (GRCm39) |
R618* |
probably null |
Het |
| Rpa1 |
A |
G |
11: 75,203,984 (GRCm39) |
S288P |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,553 (GRCm39) |
E119G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,920,081 (GRCm39) |
F817L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,910,564 (GRCm39) |
S545C |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,612,988 (GRCm39) |
V844D |
possibly damaging |
Het |
| Suclg2 |
G |
T |
6: 95,563,999 (GRCm39) |
D195E |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,539,998 (GRCm39) |
A1537D |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,472,027 (GRCm39) |
D73G |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Usp19 |
T |
A |
9: 108,369,931 (GRCm39) |
|
probably null |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,912 (GRCm39) |
F527L |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,533,473 (GRCm39) |
V459A |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGATAAGGTTACAATGCTGTGG -3'
(R):5'- TGAGGATGACATTAAGCTGCTC -3'
Sequencing Primer
(F):5'- TGCTGTGGAATAAAAAAGGTAT -3'
(R):5'- CCTGGAATTCACTTTGTAGACCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation