Incidental Mutation 'IGL02072:Eif2s1'
ID |
185861 |
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 # |
IGL02072
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
78908846-78933784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78926788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 179
(N179K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071230]
|
AlphaFold |
Q6ZWX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071230
AA Change: N179K
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000071214 Gene: ENSMUSG00000021116 AA Change: N179K
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
Fyttd1 |
A |
G |
16: 32,721,031 (GRCm39) |
I110V |
probably damaging |
Het |
G6pd2 |
A |
T |
5: 61,966,753 (GRCm39) |
D176V |
probably damaging |
Het |
Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,720 (GRCm39) |
L252H |
probably damaging |
Het |
Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
Upf3a |
A |
C |
8: 13,848,368 (GRCm39) |
Q388P |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,009,144 (GRCm39) |
V70A |
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 |
IGL00736:Eif2s1
|
APN |
12 |
78,931,611 (GRCm39) |
unclassified |
probably benign |
|
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 |
2014-05-07 |