Incidental Mutation 'IGL00736:Eif2s1'
| ID |
10461 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2s1
|
| Ensembl Gene |
ENSMUSG00000021116 |
| Gene Name |
eukaryotic translation initiation factor 2, subunit 1 alpha |
| Synonyms |
0910001O23Rik, Eif2a, eIF2alpha, 2410026C18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00736
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
78908846-78933784 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 78931611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021544]
[ENSMUST00000071230]
|
| AlphaFold |
Q6ZWX6 |
| PDB Structure |
Solution structure of the DEP domain of mouse pleckstrin2 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021544
|
| SMART Domains |
Protein: ENSMUSP00000021544
Gene: ENSMUSG00000021118
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
5 |
106 |
7.18e-15 |
SMART |
|
DEP
|
139 |
225 |
3.49e-19 |
SMART |
|
PH
|
248 |
353 |
5e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000071230
AA Change: L290Q
|
| SMART Domains |
Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116
AA Change: L290Q
| Domain | Start | End | E-Value | Type |
|---|
|
S1
|
15 |
88 |
1.72e-12 |
SMART |
|
Pfam:EIF_2_alpha
|
130 |
244 |
1e-40 |
PFAM |
|
coiled coil region
|
284 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220382
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice homozygous for a knocked-in point mutation die within hours of birth and exhibit hypoglycemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,158,324 (GRCm39) |
L41P |
probably damaging |
Het |
| Baz1b |
A |
G |
5: 135,268,886 (GRCm39) |
Y1245C |
probably damaging |
Het |
| Dnajb7 |
T |
A |
15: 81,291,774 (GRCm39) |
I188F |
probably benign |
Het |
| Dpf1 |
A |
T |
7: 29,012,333 (GRCm39) |
K18* |
probably null |
Het |
| Drosha |
T |
A |
15: 12,834,045 (GRCm39) |
Y50N |
unknown |
Het |
| Gde1 |
T |
C |
7: 118,297,925 (GRCm39) |
E97G |
probably damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,754,980 (GRCm39) |
V252M |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,425,782 (GRCm39) |
R1056Q |
probably benign |
Het |
| Myo3b |
A |
C |
2: 69,935,989 (GRCm39) |
|
probably benign |
Het |
| Ralbp1 |
T |
C |
17: 66,171,718 (GRCm39) |
Y85C |
probably damaging |
Het |
| Serpini2 |
C |
T |
3: 75,175,116 (GRCm39) |
M58I |
possibly damaging |
Het |
| Skor1 |
C |
A |
9: 63,046,820 (GRCm39) |
Q892H |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,527 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 85,013,901 (GRCm39) |
E90G |
possibly damaging |
Het |
| Zmym2 |
T |
C |
14: 57,140,668 (GRCm39) |
V169A |
probably benign |
Het |
|
| Other mutations in Eif2s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00577:Eif2s1
|
APN |
12 |
78,913,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02072:Eif2s1
|
APN |
12 |
78,926,788 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02312:Eif2s1
|
APN |
12 |
78,926,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03379:Eif2s1
|
APN |
12 |
78,913,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
Sistine
|
UTSW |
12 |
78,930,126 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0669:Eif2s1
|
UTSW |
12 |
78,928,012 (GRCm39) |
splice site |
probably benign |
|
|
R1426:Eif2s1
|
UTSW |
12 |
78,927,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1644:Eif2s1
|
UTSW |
12 |
78,913,295 (GRCm39) |
splice site |
probably null |
|
|
R1998:Eif2s1
|
UTSW |
12 |
78,913,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2069:Eif2s1
|
UTSW |
12 |
78,923,959 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3885:Eif2s1
|
UTSW |
12 |
78,927,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Eif2s1
|
UTSW |
12 |
78,923,944 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4964:Eif2s1
|
UTSW |
12 |
78,926,785 (GRCm39) |
missense |
probably benign |
|
|
R5908:Eif2s1
|
UTSW |
12 |
78,926,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6473:Eif2s1
|
UTSW |
12 |
78,927,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Eif2s1
|
UTSW |
12 |
78,930,126 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7043:Eif2s1
|
UTSW |
12 |
78,923,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7358:Eif2s1
|
UTSW |
12 |
78,927,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Eif2s1
|
UTSW |
12 |
78,927,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Eif2s1
|
UTSW |
12 |
78,913,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Eif2s1
|
UTSW |
12 |
78,921,343 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2012-12-06 |
Incidental Mutation