Incidental Mutation 'IGL03034:Eif2b1'
| ID |
408596 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2b1
|
| Ensembl Gene |
ENSMUSG00000029388 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit alpha |
| Synonyms |
26kDa, EIF2BA, EIF2B, D5Ertd406e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL03034
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124708277-124717194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124709894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031334]
[ENSMUST00000071057]
[ENSMUST00000111438]
[ENSMUST00000128920]
[ENSMUST00000131631]
[ENSMUST00000135361]
[ENSMUST00000198318]
|
| AlphaFold |
Q99LC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031334
AA Change: V228A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: V228A
| 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: ENSMUST00000128920
|
| SMART Domains |
Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
28 |
133 |
1e-12 |
PFAM |
|
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
C |
T |
11: 81,780,908 (GRCm39) |
|
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,985,509 (GRCm39) |
T269A |
probably benign |
Het |
| Asgr2 |
G |
T |
11: 69,989,089 (GRCm39) |
G178W |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,320 (GRCm39) |
|
probably benign |
Het |
| Cnmd |
C |
T |
14: 79,879,368 (GRCm39) |
A257T |
probably benign |
Het |
| Cox7a1 |
A |
G |
7: 29,884,693 (GRCm39) |
|
probably benign |
Het |
| Cpox |
C |
T |
16: 58,495,718 (GRCm39) |
T345M |
probably damaging |
Het |
| Crisp1 |
T |
C |
17: 40,618,619 (GRCm39) |
T81A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,708,214 (GRCm39) |
R501* |
probably null |
Het |
| Dlx6 |
A |
C |
6: 6,863,807 (GRCm39) |
Q143P |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,269,348 (GRCm39) |
Y687F |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
| Fbxo6 |
G |
A |
4: 148,230,579 (GRCm39) |
Q228* |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
| Kctd9 |
T |
A |
14: 67,971,728 (GRCm39) |
S268T |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,715,846 (GRCm39) |
V749M |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,938,809 (GRCm39) |
D94G |
probably damaging |
Het |
| Mllt10 |
T |
G |
2: 18,069,847 (GRCm39) |
M1R |
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,651,193 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,161,321 (GRCm39) |
I549N |
possibly damaging |
Het |
| Myocd |
T |
C |
11: 65,109,511 (GRCm39) |
T87A |
probably benign |
Het |
| Nr3c2 |
T |
G |
8: 77,914,267 (GRCm39) |
Y824* |
probably null |
Het |
| Omg |
T |
A |
11: 79,392,947 (GRCm39) |
T304S |
possibly damaging |
Het |
| Or4b1 |
A |
G |
2: 89,980,177 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,147 (GRCm39) |
H268Y |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,300,018 (GRCm39) |
T58A |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,879,121 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,527 (GRCm39) |
I144F |
probably benign |
Het |
| Pde3a |
G |
A |
6: 141,438,126 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,469,252 (GRCm39) |
K129E |
probably damaging |
Het |
| Phka2 |
G |
T |
X: 159,360,546 (GRCm39) |
E858* |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,815,081 (GRCm39) |
T548A |
possibly damaging |
Het |
| Prr14l |
G |
A |
5: 32,984,782 (GRCm39) |
A1571V |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 117,080,879 (GRCm39) |
|
probably benign |
Het |
| Sparcl1 |
T |
C |
5: 104,241,103 (GRCm39) |
E107G |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,885,392 (GRCm39) |
D620G |
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,502,215 (GRCm39) |
K121I |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,945,640 (GRCm39) |
S734P |
probably damaging |
Het |
| Zfp953 |
C |
T |
13: 67,491,526 (GRCm39) |
C142Y |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,142 (GRCm39) |
C204S |
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 |
|
R0066:Eif2b1
|
UTSW |
5 |
124,711,858 (GRCm39) |
splice site |
probably null |
|
|
R0094:Eif2b1
|
UTSW |
5 |
124,709,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2016-08-02 |
Incidental Mutation