Incidental Mutation 'IGL01073:Eif2b5'
| ID |
52887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2b5
|
| Ensembl Gene |
ENSMUSG00000003235 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 5 epsilon |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL01073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20317567-20328073 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 20319046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 99
(K99*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003320]
|
| AlphaFold |
Q8CHW4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003320
AA Change: K99*
|
| SMART Domains |
Protein: ENSMUSP00000003320
Gene: ENSMUSG00000003235
AA Change: K99*
| 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: ENSMUST00000231315
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
A |
G |
10: 81,475,156 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ccnd3 |
A |
G |
17: 47,905,770 (GRCm39) |
T104A |
probably benign |
Het |
| Cntnap5b |
A |
T |
1: 100,003,755 (GRCm39) |
D245V |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,665,855 (GRCm39) |
K82R |
probably damaging |
Het |
| Dnmt3b |
G |
A |
2: 153,512,762 (GRCm39) |
|
probably benign |
Het |
| Fam222b |
A |
G |
11: 78,045,314 (GRCm39) |
I292V |
probably damaging |
Het |
| Itpr1 |
A |
C |
6: 108,390,781 (GRCm39) |
N1560T |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,277,528 (GRCm39) |
K605N |
probably damaging |
Het |
| Letm1 |
T |
C |
5: 33,906,144 (GRCm39) |
D424G |
possibly damaging |
Het |
| Mtif3 |
C |
A |
5: 146,895,790 (GRCm39) |
R99L |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,510 (GRCm39) |
M430V |
probably benign |
Het |
| Or4c121 |
A |
T |
2: 89,023,481 (GRCm39) |
L299Q |
possibly damaging |
Het |
| Pgap2 |
T |
A |
7: 101,875,661 (GRCm39) |
|
probably benign |
Het |
| Phf11c |
A |
T |
14: 59,626,797 (GRCm39) |
S129T |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,354,086 (GRCm39) |
N154S |
probably damaging |
Het |
| Rfng |
C |
T |
11: 120,674,747 (GRCm39) |
R81H |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,137,645 (GRCm39) |
M280T |
probably benign |
Het |
| Rrp7a |
G |
A |
15: 83,002,282 (GRCm39) |
A185V |
probably benign |
Het |
| Slc22a2 |
C |
A |
17: 12,803,236 (GRCm39) |
F23L |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,898,056 (GRCm39) |
T156A |
probably benign |
Het |
| Slfn1 |
A |
T |
11: 83,012,163 (GRCm39) |
Y93F |
probably benign |
Het |
| Snrnp200 |
A |
T |
2: 127,056,832 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,730,176 (GRCm39) |
F701S |
probably damaging |
Het |
| Tmem203 |
A |
C |
2: 25,145,736 (GRCm39) |
I19L |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,560,034 (GRCm39) |
K18N |
probably damaging |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
| Vmn2r23 |
A |
C |
6: 123,689,759 (GRCm39) |
T212P |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation