Incidental Mutation 'IGL00577:Eif2s1'
| ID |
4394 |
| 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 # |
IGL00577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
78908846-78933784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 78913420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 40
(N40K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071230]
|
| AlphaFold |
Q6ZWX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071230
AA Change: N40K
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071214
Gene: ENSMUSG00000021116
AA Change: N40K
| 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: ENSMUST00000219754
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
T |
A |
14: 44,239,458 (GRCm39) |
Y90F |
probably benign |
Het |
| Arhgef6 |
T |
A |
X: 56,290,992 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,374,772 (GRCm39) |
E115G |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,801,186 (GRCm39) |
V55E |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,375 (GRCm39) |
R376* |
probably null |
Het |
| Dop1a |
A |
T |
9: 86,402,999 (GRCm39) |
I1398F |
probably damaging |
Het |
| Epb41 |
T |
A |
4: 131,702,042 (GRCm39) |
H531L |
probably benign |
Het |
| Frrs1 |
T |
A |
3: 116,696,049 (GRCm39) |
W523R |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,369,704 (GRCm39) |
D1278G |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,372,246 (GRCm39) |
A795T |
probably damaging |
Het |
| Nrdc |
T |
C |
4: 108,903,884 (GRCm39) |
|
probably benign |
Het |
| Os9 |
C |
T |
10: 126,933,845 (GRCm39) |
R524K |
probably benign |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,822 (GRCm39) |
|
probably benign |
Het |
| Prnp |
A |
G |
2: 131,779,031 (GRCm39) |
R228G |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,525,685 (GRCm39) |
P307L |
unknown |
Het |
| Prss1 |
T |
C |
6: 41,439,645 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,245,888 (GRCm39) |
D678G |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,486,624 (GRCm39) |
V430L |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,565 (GRCm39) |
S395P |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,177,599 (GRCm39) |
I55T |
probably damaging |
Het |
| Tmc3 |
A |
C |
7: 83,252,682 (GRCm39) |
E361A |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,272,312 (GRCm39) |
S922T |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,437 (GRCm39) |
Y125* |
probably null |
Het |
|
| Other mutations in Eif2s1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Eif2s1
|
APN |
12 |
78,931,611 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation