Incidental Mutation 'R6717:Eif2b5'
ID |
529452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b5
|
Ensembl Gene |
ENSMUSG00000003235 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 5 epsilon |
Synonyms |
|
MMRRC Submission |
044835-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R6717 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20317567-20328073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 20324033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 459
(G459C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003320]
[ENSMUST00000148714]
|
AlphaFold |
Q8CHW4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003320
AA Change: G459C
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000003320 Gene: ENSMUSG00000003235 AA Change: G459C
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: G38C
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
T |
5: 4,114,086 (GRCm39) |
L3122F |
probably damaging |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,632 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
T |
18: 22,153,946 (GRCm39) |
V621E |
probably damaging |
Het |
Cfap126 |
T |
C |
1: 170,941,671 (GRCm39) |
|
probably null |
Het |
Cog2 |
T |
C |
8: 125,252,488 (GRCm39) |
I64T |
probably damaging |
Het |
Dhx9 |
A |
C |
1: 153,349,210 (GRCm39) |
|
probably null |
Het |
Efcab7 |
A |
G |
4: 99,761,931 (GRCm39) |
D407G |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,793,765 (GRCm39) |
E1168G |
probably damaging |
Het |
Flnc |
AGCTGTCAAGTATGCTG |
AGCTG |
6: 29,450,901 (GRCm39) |
|
probably benign |
Het |
Fry |
A |
G |
5: 150,419,777 (GRCm39) |
T980A |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,787,574 (GRCm39) |
V363A |
possibly damaging |
Het |
Ggt6 |
T |
A |
11: 72,328,346 (GRCm39) |
L244* |
probably null |
Het |
Gprc6a |
T |
A |
10: 51,491,233 (GRCm39) |
I768F |
probably damaging |
Het |
Grk1 |
G |
A |
8: 13,466,237 (GRCm39) |
M560I |
probably benign |
Het |
Hapln4 |
G |
A |
8: 70,537,740 (GRCm39) |
E145K |
probably damaging |
Het |
Hoxd9 |
C |
T |
2: 74,528,733 (GRCm39) |
P112S |
probably benign |
Het |
Ly6g6f |
T |
A |
17: 35,304,550 (GRCm39) |
M1L |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,644,383 (GRCm39) |
T849A |
probably benign |
Het |
Mob4 |
A |
T |
1: 55,175,872 (GRCm39) |
M39L |
possibly damaging |
Het |
Mrgpre |
A |
T |
7: 143,335,260 (GRCm39) |
L81Q |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,957,774 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
T |
7: 141,411,559 (GRCm39) |
R1502* |
probably null |
Het |
Or4b13 |
T |
A |
2: 90,082,868 (GRCm39) |
I155L |
probably benign |
Het |
Or5ap2 |
T |
A |
2: 85,680,567 (GRCm39) |
I257N |
probably damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,113 (GRCm39) |
Y58H |
probably damaging |
Het |
Pdc |
A |
G |
1: 150,208,769 (GRCm39) |
D84G |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,114,523 (GRCm39) |
N443D |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,341,401 (GRCm39) |
W85R |
unknown |
Het |
Pramel31 |
G |
T |
4: 144,089,227 (GRCm39) |
V182L |
probably benign |
Het |
Rfc1 |
G |
A |
5: 65,459,347 (GRCm39) |
Q190* |
probably null |
Het |
Rfc1 |
A |
G |
5: 65,470,304 (GRCm39) |
S68P |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,452,317 (GRCm39) |
V432A |
probably benign |
Het |
Ror2 |
A |
G |
13: 53,273,018 (GRCm39) |
S204P |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Slc2a8 |
A |
C |
2: 32,866,189 (GRCm39) |
M277R |
probably damaging |
Het |
Slc4a1 |
T |
C |
11: 102,245,249 (GRCm39) |
Y566C |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,331,262 (GRCm39) |
N185S |
probably benign |
Het |
Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
Stk33 |
T |
A |
7: 108,926,823 (GRCm39) |
T279S |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,379,015 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,599,561 (GRCm39) |
T516A |
probably benign |
Het |
Tmem132c |
T |
A |
5: 127,641,093 (GRCm39) |
L1088Q |
possibly damaging |
Het |
Tmem132d |
T |
A |
5: 127,861,485 (GRCm39) |
M879L |
probably benign |
Het |
Tnk2 |
A |
G |
16: 32,489,687 (GRCm39) |
E322G |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,433,302 (GRCm39) |
V2081A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,624,753 (GRCm39) |
|
probably null |
Het |
Zfp105 |
T |
C |
9: 122,759,373 (GRCm39) |
V348A |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,745,753 (GRCm39) |
R562G |
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 |
R5920:Eif2b5
|
UTSW |
16 |
20,317,694 (GRCm39) |
missense |
unknown |
|
R5925:Eif2b5
|
UTSW |
16 |
20,326,874 (GRCm39) |
missense |
probably benign |
0.02 |
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'- CTGATTGTCAAGACACAGTTCTC -3'
(R):5'- ACTGACTTTGAGAAGGCCCAG -3'
Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GCAGCAGCATCTCTCTCTAGAAGG -3'
|
Posted On |
2018-08-01 |