Incidental Mutation 'R8144:Eif2b1'
| ID |
632685 |
| 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 |
067572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8144 (G1)
|
| Quality Score |
174.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124708277-124717194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124711208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 187
(M187K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031334]
[ENSMUST00000071057]
[ENSMUST00000111438]
[ENSMUST00000128920]
[ENSMUST00000135361]
[ENSMUST00000198318]
|
| AlphaFold |
Q99LC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031334
AA Change: M187K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388
AA Change: M187K
| 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: ENSMUST00000135361
|
| SMART Domains |
Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
13 |
172 |
2.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198318
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.4%
- 10x: 98.0%
- 20x: 90.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
C |
9: 57,166,388 (GRCm39) |
|
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,546,962 (GRCm39) |
D389G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,319 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
G |
A |
13: 68,882,754 (GRCm39) |
Q328* |
probably null |
Het |
| Arhgef40 |
T |
A |
14: 52,235,632 (GRCm39) |
V1171E |
probably damaging |
Het |
| Arrb1 |
G |
A |
7: 99,247,659 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
G |
A |
8: 110,459,233 (GRCm39) |
A343V |
probably benign |
Het |
| C3 |
A |
T |
17: 57,533,276 (GRCm39) |
V109E |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,367,827 (GRCm39) |
V595E |
possibly damaging |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,474 (GRCm39) |
S175P |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,537,911 (GRCm39) |
L533P |
probably damaging |
Het |
| Fam221b |
T |
G |
4: 43,665,465 (GRCm39) |
Q331P |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,466 (GRCm39) |
Q331K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,333,745 (GRCm39) |
V127A |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,708,893 (GRCm39) |
P1719L |
unknown |
Het |
| Lars1 |
T |
G |
18: 42,351,591 (GRCm39) |
H871P |
probably damaging |
Het |
| Mamdc4 |
A |
T |
2: 25,457,019 (GRCm39) |
V590E |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,037 (GRCm39) |
I457T |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,634,039 (GRCm39) |
V717A |
probably benign |
Het |
| Or1p1c |
C |
A |
11: 74,160,384 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or8d2b |
A |
T |
9: 38,788,662 (GRCm39) |
L63F |
probably damaging |
Het |
| Pank4 |
A |
T |
4: 155,054,537 (GRCm39) |
Q170L |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,742 (GRCm39) |
A1489D |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,359,278 (GRCm39) |
I15N |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,205,985 (GRCm39) |
E26A |
probably damaging |
Het |
| Poglut2 |
A |
G |
1: 44,149,966 (GRCm39) |
Y408H |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,849,846 (GRCm39) |
P367S |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,927,600 (GRCm39) |
V817E |
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,663 (GRCm39) |
D99G |
probably damaging |
Het |
| Rasgrp4 |
A |
T |
7: 28,848,542 (GRCm39) |
S556C |
probably damaging |
Het |
| Rhobtb1 |
G |
T |
10: 69,125,388 (GRCm39) |
V653L |
possibly damaging |
Het |
| Rin2 |
G |
A |
2: 145,664,225 (GRCm39) |
R33Q |
probably benign |
Het |
| Rmc1 |
A |
T |
18: 12,318,704 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
C |
T |
18: 42,274,124 (GRCm39) |
T430I |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,227,759 (GRCm39) |
|
probably null |
Het |
| Slc39a8 |
C |
T |
3: 135,590,404 (GRCm39) |
Q366* |
probably null |
Het |
| Spata31h1 |
A |
T |
10: 82,130,433 (GRCm39) |
L859* |
probably null |
Het |
| Tagln3 |
G |
T |
16: 45,544,554 (GRCm39) |
A39D |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,423,015 (GRCm39) |
C307S |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,945 (GRCm39) |
S644P |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,558,761 (GRCm39) |
D723G |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,519,145 (GRCm39) |
N195D |
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,733,694 (GRCm39) |
Y589C |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,172 (GRCm39) |
T452A |
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 |
|
|
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 |
|
|
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'- CTCAATTCCAAGCTGAATCCAG -3'
(R):5'- TCATCGGTGTGTATGACCCAC -3'
Sequencing Primer
(F):5'- GACAATTTGAGGCTATCCTGAGC -3'
(R):5'- CATCGGTGTGTATGACCCACAAATAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation