Incidental Mutation 'R2655:Eif2b1'
| ID |
252648 |
| 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 |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124708277-124717194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124714917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 120
(S120P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
[ENSMUST00000031334]
[ENSMUST00000128920]
[ENSMUST00000135163]
[ENSMUST00000135361]
[ENSMUST00000198318]
|
| AlphaFold |
Q99LC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031333
|
| SMART Domains |
Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb4
|
8 |
287 |
2.1e-108 |
PFAM |
|
low complexity region
|
299 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031334
AA Change: S105P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: S105P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
14 |
293 |
2.3e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126466
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128920
AA Change: S120P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388
AA Change: S120P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
28 |
133 |
1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135163
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135361
AA Change: S105P
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388
AA Change: S105P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
13 |
172 |
2.4e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198318
|
| Meta Mutation Damage Score |
0.3139 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| 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 |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
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 |
|
|
R0094:Eif2b1
|
UTSW |
5 |
124,709,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAGAGCGTCTCAGTCAC -3'
(R):5'- AATACTCTGTAAGCCCCGCC -3'
Sequencing Primer
(F):5'- GGGAGCTGCCGTCCTTATTAAC -3'
(R):5'- GTAAGCCCCGCCCTCCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation