Incidental Mutation 'R0785:Eif2b2'
| ID |
76826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b2
|
| Ensembl Gene |
ENSMUSG00000004788 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 2 beta |
| Synonyms |
EIF2B, EIF-2Bbeta |
| MMRRC Submission |
038965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85266255-85273402 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85268335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 170
(T170K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004910]
[ENSMUST00000136495]
[ENSMUST00000140900]
|
| AlphaFold |
Q99LD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004910
AA Change: T173K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000004910
Gene: ENSMUSG00000004788
AA Change: T173K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
27 |
333 |
3.2e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128709
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130760
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136495
AA Change: T173K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122720
Gene: ENSMUSG00000004788
AA Change: T173K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
27 |
232 |
2e-51 |
PFAM |
|
Pfam:IF-2B
|
229 |
287 |
4.7e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140900
AA Change: T170K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122954
Gene: ENSMUSG00000004788
AA Change: T170K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF-2B
|
27 |
228 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150935
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151925
|
| Meta Mutation Damage Score |
0.9251 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. Mutations in the human gene are associated with ovarioleukodystrophy and leukoencephalopathy with vanishing white matter. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Adam10 |
A |
G |
9: 70,675,170 (GRCm39) |
E593G |
possibly damaging |
Het |
| Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,434 (GRCm39) |
D327G |
probably benign |
Het |
| Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
| Ern2 |
A |
T |
7: 121,770,884 (GRCm39) |
|
probably null |
Het |
| Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
| Hipk1 |
G |
T |
3: 103,661,641 (GRCm39) |
|
probably null |
Het |
| Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
| Krt1c |
C |
A |
15: 101,726,356 (GRCm39) |
G61C |
unknown |
Het |
| Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
| Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
| Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
| Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
| Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
| Polr1g |
G |
C |
7: 19,091,210 (GRCm39) |
S299C |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
| Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly damaging |
Het |
|
| Other mutations in Eif2b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01979:Eif2b2
|
APN |
12 |
85,266,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03156:Eif2b2
|
APN |
12 |
85,266,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03238:Eif2b2
|
APN |
12 |
85,270,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0471:Eif2b2
|
UTSW |
12 |
85,266,957 (GRCm39) |
missense |
probably benign |
|
|
R1368:Eif2b2
|
UTSW |
12 |
85,270,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1442:Eif2b2
|
UTSW |
12 |
85,266,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3162:Eif2b2
|
UTSW |
12 |
85,266,435 (GRCm39) |
missense |
probably benign |
|
|
R3162:Eif2b2
|
UTSW |
12 |
85,266,435 (GRCm39) |
missense |
probably benign |
|
|
R5931:Eif2b2
|
UTSW |
12 |
85,269,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Eif2b2
|
UTSW |
12 |
85,272,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9038:Eif2b2
|
UTSW |
12 |
85,266,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Eif2b2
|
UTSW |
12 |
85,270,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Eif2b2
|
UTSW |
12 |
85,266,338 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACTCCAGACAGCCACTCTCAAG -3'
(R):5'- GACTCCAGGCTGAGCTAATTGATTCAC -3'
Sequencing Primer
(F):5'- AGCCTGCTAAGCCTGTGATG -3'
(R):5'- CCTCTTACCTGGCAGAAAGGA -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation