Incidental Mutation 'R4017:Eif2a'
| ID |
311978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2a
|
| Ensembl Gene |
ENSMUSG00000027810 |
| Gene Name |
eukaryotic translation initiation factor 2A |
| Synonyms |
D3Ertd194e |
| MMRRC Submission |
041611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
58433252-58464922 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58452776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 209
(M209K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029387]
[ENSMUST00000135876]
[ENSMUST00000138848]
[ENSMUST00000154219]
|
| AlphaFold |
Q8BJW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029387
AA Change: M226K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029387
Gene: ENSMUSG00000027810
AA Change: M226K
| 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 damaging
Transcript: ENSMUST00000138848
AA Change: M209K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120901
Gene: ENSMUSG00000027810
AA Change: M209K
| 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
|
| Meta Mutation Damage Score |
0.8465 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (36/37) |
| 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 |
|---|
| Actn3 |
G |
T |
19: 4,917,574 (GRCm39) |
T423N |
possibly damaging |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,896,915 (GRCm39) |
F121L |
probably benign |
Het |
| BC004004 |
T |
C |
17: 29,517,706 (GRCm39) |
S307P |
probably damaging |
Het |
| Cpeb4 |
A |
G |
11: 31,874,671 (GRCm39) |
D484G |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,405,900 (GRCm39) |
Y553C |
probably damaging |
Het |
| Dync1h1 |
G |
T |
12: 110,609,624 (GRCm39) |
R2802I |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,813 (GRCm39) |
K1071E |
probably benign |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Klhl10 |
G |
A |
11: 100,336,500 (GRCm39) |
M162I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Npr1 |
T |
C |
3: 90,363,539 (GRCm39) |
E828G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,023,448 (GRCm39) |
F643S |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,948,333 (GRCm39) |
D182V |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,846 (GRCm39) |
S272G |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,948,791 (GRCm39) |
V69A |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,636,743 (GRCm39) |
C688F |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rnf157 |
A |
T |
11: 116,250,067 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
A |
T |
4: 86,476,233 (GRCm39) |
I7N |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,329 (GRCm39) |
I214N |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Suz12 |
G |
T |
11: 79,904,292 (GRCm39) |
V211F |
probably damaging |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Zfp940 |
T |
C |
7: 29,545,359 (GRCm39) |
I183V |
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 |
|
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 |
|
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'- CCATCTCAGTTTATGTGCTTCTAAG -3'
(R):5'- CAATGTAGTGCAGTGTTTGTTCTCC -3'
Sequencing Primer
(F):5'- TGTGCTTCTAAGAATTAAGCACTG -3'
(R):5'- GGAGGCTCCTGTCTTGTCAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation