Incidental Mutation 'R1321:Eif2b5'
| ID |
157699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b5
|
| Ensembl Gene |
ENSMUSG00000003235 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 5 epsilon |
| Synonyms |
|
| MMRRC Submission |
039387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R1321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20317567-20328073 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 20323439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 397
(R397*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003320]
[ENSMUST00000148714]
|
| AlphaFold |
Q8CHW4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003320
AA Change: R397*
|
| SMART Domains |
Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: R397*
| 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 |
probably benign
Transcript: ENSMUST00000231315
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
| Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
|
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 |
|
R2231:Eif2b5
|
UTSW |
16 |
20,323,520 (GRCm39) |
missense |
probably benign |
|
|
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'- GGCTAACCTTGGAAGGGACTGAATG -3'
(R):5'- CAAGTAGCCCAGACTTCATCGTGC -3'
Sequencing Primer
(F):5'- GACTGAATGTTTCTAATGTCAGCAGG -3'
(R):5'- atccgcctgtctctgcc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation