Incidental Mutation 'R1426:Eif2s1'
ID |
162256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2s1
|
Ensembl Gene |
ENSMUSG00000021116 |
Gene Name |
eukaryotic translation initiation factor 2, subunit 1 alpha |
Synonyms |
0910001O23Rik, Eif2a, eIF2alpha, 2410026C18Rik |
MMRRC Submission |
039482-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1426 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
78908846-78933784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78927942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 206
(D206G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071230]
|
AlphaFold |
Q6ZWX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071230
AA Change: D206G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000071214 Gene: ENSMUSG00000021116 AA Change: D206G
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
|
Meta Mutation Damage Score |
0.4728 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
Validation Efficiency |
100% (40/40) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably damaging |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATATTCTTAGCATTTGGGAAGCCCT -3'
(R):5'- AGCTGTACTTTTCTACCCAACATGACC -3'
Sequencing Primer
(F):5'- gctcagcaagtaaagccactc -3'
(R):5'- ACATGACCAGCCAAAAGGG -3'
|
Posted On |
2014-03-14 |