Incidental Mutation 'R6601:Eif2s1'
ID |
525283 |
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 |
044725-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6601 (G1)
|
Quality Score |
157.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
78908846-78933784 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78930126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 258
(I258T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071214
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071230]
|
AlphaFold |
Q6ZWX6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071230
AA Change: I258T
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071214 Gene: ENSMUSG00000021116 AA Change: I258T
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 |
0.7286 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
98% (41/42) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
Ubr7 |
T |
A |
12: 102,727,723 (GRCm39) |
C82S |
probably damaging |
Het |
Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
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 |
|
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 |
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'- GGCAGGTCAAGATGATTTCTTC -3'
(R):5'- GTCAGTGTACCTGGGCATAC -3'
Sequencing Primer
(F):5'- GGTCAAGATGATTTCTTCATGTAGC -3'
(R):5'- TCATCAGGCAGTTCAAGGCTAGC -3'
|
Posted On |
2018-06-22 |