Incidental Mutation 'R2231:Eif2b5'
| ID |
240060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b5
|
| Ensembl Gene |
ENSMUSG00000003235 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 5 epsilon |
| Synonyms |
|
| MMRRC Submission |
040232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R2231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20317567-20328073 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20323520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 424
(Y424H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003320]
[ENSMUST00000148714]
|
| AlphaFold |
Q8CHW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003320
AA Change: Y424H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: Y424H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
|
Pfam:Hexapep
|
341 |
372 |
9.8e-5 |
PFAM |
|
Pfam:Hexapep
|
361 |
389 |
6.1e-6 |
PFAM |
|
low complexity region
|
517 |
526 |
N/A |
INTRINSIC |
|
eIF5C
|
625 |
712 |
8.43e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148714
|
| SMART Domains |
Protein: ENSMUSP00000121169
Gene: ENSMUSG00000003235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:W2
|
82 |
150 |
7e-15 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231315
AA Change: Y3H
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal brain white matter development, decreased body fat, demyelination, impaired recovery from cuprizone-induced demyelination, and impaired coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
G |
A |
1: 36,739,440 (GRCm39) |
R336W |
probably damaging |
Het |
| Alkbh6 |
G |
A |
7: 30,012,015 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,359,925 (GRCm39) |
M1V |
probably null |
Het |
| Cblb |
T |
A |
16: 52,014,635 (GRCm39) |
S895T |
probably benign |
Het |
| Cdk8 |
A |
T |
5: 146,168,414 (GRCm39) |
|
probably benign |
Het |
| Coch |
G |
A |
12: 51,649,648 (GRCm39) |
V320I |
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
| Enoph1 |
C |
T |
5: 100,188,136 (GRCm39) |
T20I |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,103 (GRCm39) |
|
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or5b12b |
A |
G |
19: 12,861,313 (GRCm39) |
I23V |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,768,725 (GRCm39) |
F403L |
possibly damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,959 (GRCm39) |
T134A |
probably benign |
Het |
| Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,378 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,543,767 (GRCm39) |
D257E |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,462,916 (GRCm39) |
E1040G |
possibly damaging |
Het |
| Sgce |
T |
C |
6: 4,730,066 (GRCm39) |
K53E |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,171,590 (GRCm39) |
T254A |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,191,313 (GRCm39) |
Y180C |
probably benign |
Het |
| Ssna1 |
G |
T |
2: 25,162,019 (GRCm39) |
N58K |
possibly damaging |
Het |
| Tbx3 |
C |
A |
5: 119,815,589 (GRCm39) |
N296K |
probably damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,309 (GRCm39) |
T264A |
unknown |
Het |
| Trdmt1 |
A |
T |
2: 13,530,436 (GRCm39) |
F82I |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Usp33 |
C |
T |
3: 152,079,023 (GRCm39) |
A425V |
probably benign |
Het |
| Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,421 (GRCm39) |
T282M |
possibly damaging |
Het |
|
| Other mutations in Eif2b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Eif2b5
|
APN |
16 |
20,324,002 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01073:Eif2b5
|
APN |
16 |
20,319,046 (GRCm39) |
nonsense |
probably null |
|
|
IGL01467:Eif2b5
|
APN |
16 |
20,327,714 (GRCm39) |
nonsense |
probably null |
|
|
IGL02754:Eif2b5
|
APN |
16 |
20,321,536 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03286:Eif2b5
|
APN |
16 |
20,321,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Eif2b5
|
UTSW |
16 |
20,321,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1321:Eif2b5
|
UTSW |
16 |
20,323,439 (GRCm39) |
nonsense |
probably null |
|
|
R1647:Eif2b5
|
UTSW |
16 |
20,321,335 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1648:Eif2b5
|
UTSW |
16 |
20,321,335 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1897:Eif2b5
|
UTSW |
16 |
20,325,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3196:Eif2b5
|
UTSW |
16 |
20,324,272 (GRCm39) |
missense |
probably benign |
|
|
R4423:Eif2b5
|
UTSW |
16 |
20,320,469 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4776:Eif2b5
|
UTSW |
16 |
20,318,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Eif2b5
|
UTSW |
16 |
20,320,148 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5828:Eif2b5
|
UTSW |
16 |
20,321,536 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5920:Eif2b5
|
UTSW |
16 |
20,317,694 (GRCm39) |
missense |
unknown |
|
|
R5925:Eif2b5
|
UTSW |
16 |
20,326,874 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6717:Eif2b5
|
UTSW |
16 |
20,324,033 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6915:Eif2b5
|
UTSW |
16 |
20,321,500 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7396:Eif2b5
|
UTSW |
16 |
20,324,887 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8046:Eif2b5
|
UTSW |
16 |
20,325,154 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8196:Eif2b5
|
UTSW |
16 |
20,321,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8503:Eif2b5
|
UTSW |
16 |
20,317,730 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8532:Eif2b5
|
UTSW |
16 |
20,323,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9222:Eif2b5
|
UTSW |
16 |
20,321,382 (GRCm39) |
nonsense |
probably null |
|
|
R9336:Eif2b5
|
UTSW |
16 |
20,324,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Eif2b5
|
UTSW |
16 |
20,317,671 (GRCm39) |
missense |
unknown |
|
|
Z1192:Eif2b5
|
UTSW |
16 |
20,317,671 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTGTGAAGGACTCTTTCGG -3'
(R):5'- AGAACTGTGTCTTGACAATCAGAAC -3'
Sequencing Primer
(F):5'- ACTCTTTCGGATGTGGGACCC -3'
(R):5'- AGAGAAACTGGGGCTCTT -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation