Incidental Mutation 'R5920:Eif2b5'
ID |
461540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b5
|
Ensembl Gene |
ENSMUSG00000003235 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 5 epsilon |
Synonyms |
|
MMRRC Submission |
044117-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5920 (G1)
|
Quality Score |
114 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
20317567-20328073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 20317694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 11
(A11S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003320]
|
AlphaFold |
Q8CHW4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000003320
AA Change: A11S
|
SMART Domains |
Protein: ENSMUSP00000003320 Gene: ENSMUSG00000003235 AA Change: A11S
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
Atp13a1 |
G |
A |
8: 70,252,746 (GRCm39) |
E689K |
probably benign |
Het |
Calcr |
G |
A |
6: 3,722,994 (GRCm39) |
R11W |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,389,005 (GRCm39) |
Y430C |
probably damaging |
Het |
Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
Myoc |
C |
T |
1: 162,467,128 (GRCm39) |
A99V |
probably benign |
Het |
Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
Sdha |
A |
G |
13: 74,475,044 (GRCm39) |
|
probably null |
Het |
Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
probably damaging |
Het |
Zfp532 |
G |
A |
18: 65,777,421 (GRCm39) |
V893I |
probably benign |
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 |
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 |
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'- TCTGCTGGTACACACATGC -3'
(R):5'- CACGCTTCACTAACCAGCTG -3'
Sequencing Primer
(F):5'- GCTGGTACACACATGCGCATTC -3'
(R):5'- TTCACTAACCAGCTGCAGTGG -3'
|
Posted On |
2017-02-28 |