Incidental Mutation 'R0094:Eif2b1'
ID |
17105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b1
|
Ensembl Gene |
ENSMUSG00000029388 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit alpha |
Synonyms |
26kDa, EIF2BA, EIF2B, D5Ertd406e |
MMRRC Submission |
038380-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R0094 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124708277-124717194 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124709829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 250
(F250L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031334]
[ENSMUST00000071057]
[ENSMUST00000111438]
[ENSMUST00000131631]
[ENSMUST00000135361]
[ENSMUST00000198318]
|
AlphaFold |
Q99LC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031334
AA Change: F250L
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031334 Gene: ENSMUSG00000029388 AA Change: F250L
Domain | Start | End | E-Value | Type |
Pfam:IF-2B
|
14 |
293 |
2.3e-81 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071057
|
SMART Domains |
Protein: ENSMUSP00000070279 Gene: ENSMUSG00000029389
Domain | Start | End | E-Value | Type |
DEXDc
|
28 |
245 |
3.15e-51 |
SMART |
HELICc
|
281 |
363 |
3.69e-25 |
SMART |
DUF4217
|
402 |
465 |
1.44e-26 |
SMART |
low complexity region
|
491 |
506 |
N/A |
INTRINSIC |
low complexity region
|
517 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111438
|
SMART Domains |
Protein: ENSMUSP00000107065 Gene: ENSMUSG00000029389
Domain | Start | End | E-Value | Type |
DEXDc
|
28 |
245 |
3.15e-51 |
SMART |
HELICc
|
281 |
363 |
3.69e-25 |
SMART |
DUF4217
|
398 |
461 |
1.44e-26 |
SMART |
low complexity region
|
487 |
502 |
N/A |
INTRINSIC |
low complexity region
|
513 |
536 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131631
|
SMART Domains |
Protein: ENSMUSP00000143462 Gene: ENSMUSG00000029389
Domain | Start | End | E-Value | Type |
Pfam:DEAD
|
33 |
125 |
6.4e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135361
|
SMART Domains |
Protein: ENSMUSP00000122923 Gene: ENSMUSG00000029388
Domain | Start | End | E-Value | Type |
Pfam:IF-2B
|
13 |
172 |
2.4e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152716
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198318
|
Meta Mutation Damage Score |
0.0822 |
Coding Region Coverage |
- 1x: 84.5%
- 3x: 75.9%
- 10x: 43.5%
- 20x: 12.9%
|
Validation Efficiency |
86% (51/59) |
MGI Phenotype |
FUNCTION: This gene encodes the alpha subunit of the eukaryotic translation initiation factor complex 2B (eIF2B). The eIF2B complex is a heterodecamer comprised of two molecules each of alpha, beta, gamma, delta and epsilon subunits. The eIF2B complex is a critical regulator of protein synthesis acting as the guanine nucleotide exchange factor for eIF2 to enable the formation of ternary complex that is required for the initiation of mRNA translation. [provided by RefSeq, Aug 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,203,427 (GRCm39) |
|
probably benign |
Het |
4930432E11Rik |
A |
G |
7: 29,260,236 (GRCm39) |
|
noncoding transcript |
Het |
4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,277,171 (GRCm39) |
D2034E |
probably damaging |
Het |
B3gnt2 |
T |
C |
11: 22,786,655 (GRCm39) |
R178G |
probably damaging |
Het |
Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
Ctsj |
A |
C |
13: 61,151,519 (GRCm39) |
|
probably null |
Het |
Dap3 |
T |
A |
3: 88,834,335 (GRCm39) |
M294L |
probably benign |
Het |
Ddias |
T |
C |
7: 92,509,108 (GRCm39) |
N269S |
possibly damaging |
Het |
Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
Emc1 |
T |
A |
4: 139,087,796 (GRCm39) |
F100Y |
probably damaging |
Het |
Hfm1 |
T |
A |
5: 107,065,344 (GRCm39) |
M112L |
probably benign |
Het |
Lipg |
T |
C |
18: 75,078,917 (GRCm39) |
Y445C |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,172,042 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
A |
G |
12: 84,846,200 (GRCm39) |
Y897H |
probably damaging |
Het |
Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
Mybpc2 |
A |
G |
7: 44,166,328 (GRCm39) |
Y221H |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,344,468 (GRCm39) |
I2323N |
possibly damaging |
Het |
Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
Otol1 |
G |
A |
3: 69,926,016 (GRCm39) |
A64T |
probably benign |
Het |
Pcdh8 |
G |
T |
14: 80,005,588 (GRCm39) |
D933E |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
Rad54b |
T |
C |
4: 11,599,681 (GRCm39) |
V72A |
possibly damaging |
Het |
Ranbp3 |
A |
G |
17: 57,016,338 (GRCm39) |
|
probably benign |
Het |
Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
Serping1 |
T |
G |
2: 84,603,620 (GRCm39) |
R140S |
probably benign |
Het |
Slc34a2 |
T |
C |
5: 53,221,310 (GRCm39) |
F252S |
probably benign |
Het |
Spata45 |
A |
G |
1: 190,772,059 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,896,635 (GRCm39) |
S1174P |
probably benign |
Het |
Ss18l2 |
T |
C |
9: 121,541,699 (GRCm39) |
L64P |
probably benign |
Het |
Tmem81 |
A |
G |
1: 132,435,787 (GRCm39) |
I198V |
probably benign |
Het |
Trappc9 |
A |
T |
15: 72,894,929 (GRCm38) |
|
probably benign |
Het |
Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,708,791 (GRCm39) |
T130I |
probably benign |
Het |
|
Other mutations in Eif2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00551:Eif2b1
|
APN |
5 |
124,714,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Eif2b1
|
APN |
5 |
124,714,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01757:Eif2b1
|
APN |
5 |
124,711,203 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03034:Eif2b1
|
APN |
5 |
124,709,894 (GRCm39) |
missense |
probably benign |
0.01 |
R0066:Eif2b1
|
UTSW |
5 |
124,711,858 (GRCm39) |
splice site |
probably null |
|
R2655:Eif2b1
|
UTSW |
5 |
124,714,917 (GRCm39) |
missense |
probably damaging |
0.99 |
R4842:Eif2b1
|
UTSW |
5 |
124,714,971 (GRCm39) |
missense |
probably damaging |
0.98 |
R5347:Eif2b1
|
UTSW |
5 |
124,716,862 (GRCm39) |
intron |
probably benign |
|
R5620:Eif2b1
|
UTSW |
5 |
124,717,075 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5801:Eif2b1
|
UTSW |
5 |
124,712,775 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6481:Eif2b1
|
UTSW |
5 |
124,715,174 (GRCm39) |
missense |
probably benign |
0.34 |
R6659:Eif2b1
|
UTSW |
5 |
124,717,171 (GRCm39) |
unclassified |
probably benign |
|
R6850:Eif2b1
|
UTSW |
5 |
124,717,069 (GRCm39) |
missense |
probably benign |
0.15 |
R7075:Eif2b1
|
UTSW |
5 |
124,709,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R7418:Eif2b1
|
UTSW |
5 |
124,714,893 (GRCm39) |
missense |
probably benign |
0.11 |
R8125:Eif2b1
|
UTSW |
5 |
124,717,162 (GRCm39) |
unclassified |
probably benign |
|
R8144:Eif2b1
|
UTSW |
5 |
124,711,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R9473:Eif2b1
|
UTSW |
5 |
124,712,677 (GRCm39) |
nonsense |
probably null |
|
R9526:Eif2b1
|
UTSW |
5 |
124,711,867 (GRCm39) |
missense |
probably benign |
0.03 |
X0066:Eif2b1
|
UTSW |
5 |
124,717,120 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2013-01-20 |