Incidental Mutation 'R5528:Eif2a'
ID |
433513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2a
|
Ensembl Gene |
ENSMUSG00000027810 |
Gene Name |
eukaryotic translation initiation factor 2A |
Synonyms |
D3Ertd194e |
MMRRC Submission |
043086-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5528 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
58433252-58464922 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58455933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 311
(D311Y)
|
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: D311Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029387 Gene: ENSMUSG00000027810 AA Change: D311Y
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 |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.4%
|
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 |
1110002E22Rik |
T |
C |
3: 137,772,260 (GRCm39) |
L483P |
probably benign |
Het |
4930519G04Rik |
T |
G |
5: 115,012,415 (GRCm39) |
|
probably null |
Het |
Ablim2 |
C |
T |
5: 36,013,510 (GRCm39) |
Q148* |
probably null |
Het |
Ap3s2 |
A |
T |
7: 79,530,234 (GRCm39) |
*194R |
probably null |
Het |
Arpp21 |
C |
T |
9: 111,978,421 (GRCm39) |
A235T |
probably benign |
Het |
C9orf72 |
T |
C |
4: 35,213,556 (GRCm39) |
D198G |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,936,078 (GRCm39) |
D939G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,320,610 (GRCm39) |
I734N |
probably damaging |
Het |
Clcn1 |
C |
A |
6: 42,277,275 (GRCm39) |
N455K |
probably benign |
Het |
Cpne8 |
C |
T |
15: 90,503,893 (GRCm39) |
V91I |
possibly damaging |
Het |
Cstdc7 |
A |
G |
18: 42,306,727 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,279,295 (GRCm39) |
V448A |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Eeig1 |
G |
A |
2: 32,456,339 (GRCm39) |
A334T |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,258,419 (GRCm39) |
E512K |
probably damaging |
Het |
Esp15 |
A |
T |
17: 39,955,640 (GRCm39) |
Y69F |
probably benign |
Het |
Gucy1a1 |
A |
T |
3: 82,016,380 (GRCm39) |
Y203N |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,562,321 (GRCm39) |
Q248R |
probably damaging |
Het |
Ifit2 |
T |
A |
19: 34,550,937 (GRCm39) |
V159E |
possibly damaging |
Het |
Il17rd |
T |
C |
14: 26,810,024 (GRCm39) |
V20A |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,897,027 (GRCm39) |
D291V |
probably damaging |
Het |
Klf11 |
A |
T |
12: 24,704,929 (GRCm39) |
M111L |
probably benign |
Het |
Lama5 |
T |
A |
2: 179,836,356 (GRCm39) |
H1165L |
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,139,522 (GRCm39) |
N702S |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,307,736 (GRCm39) |
V323A |
probably damaging |
Het |
Mkrn3 |
T |
C |
7: 62,068,735 (GRCm39) |
E352G |
possibly damaging |
Het |
Ms4a19 |
T |
C |
19: 11,118,999 (GRCm39) |
S37G |
possibly damaging |
Het |
Mtf2 |
T |
A |
5: 108,242,023 (GRCm39) |
L277Q |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,775,918 (GRCm39) |
N370D |
probably benign |
Het |
Nlrp4e |
A |
C |
7: 23,036,316 (GRCm39) |
K723T |
probably benign |
Het |
Nsun3 |
A |
G |
16: 62,555,689 (GRCm39) |
V279A |
possibly damaging |
Het |
Pde6b |
A |
G |
5: 108,571,424 (GRCm39) |
D459G |
probably benign |
Het |
Phgdh |
T |
C |
3: 98,235,655 (GRCm39) |
I121V |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,386,803 (GRCm39) |
C811R |
probably damaging |
Het |
Spaca6 |
A |
C |
17: 18,051,344 (GRCm39) |
I27L |
probably benign |
Het |
Trmt1l |
G |
A |
1: 151,330,746 (GRCm39) |
V588I |
probably benign |
Het |
Tshr |
A |
G |
12: 91,503,967 (GRCm39) |
N302D |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,689,961 (GRCm39) |
D279G |
probably damaging |
Het |
Wnt3a |
T |
C |
11: 59,166,106 (GRCm39) |
N58S |
probably damaging |
Het |
Zkscan8 |
A |
G |
13: 21,704,895 (GRCm39) |
V276A |
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 |
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 |
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'- GAAGAACTCATGCCACTAGAGC -3'
(R):5'- AGCACATGTGGCTGTTAAGATATG -3'
Sequencing Primer
(F):5'- TCATGCCACTAGAGCCTGCTG -3'
(R):5'- AAGATATGCTCACCATCTGGG -3'
|
Posted On |
2016-10-06 |