Incidental Mutation 'R9458:Eif2b4'
ID |
714704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b4
|
Ensembl Gene |
ENSMUSG00000029145 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
Synonyms |
Eif2b |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9458 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 31350609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201154]
[ENSMUST00000201535]
[ENSMUST00000201679]
[ENSMUST00000202124]
[ENSMUST00000202758]
|
AlphaFold |
Q61749 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031029
|
SMART Domains |
Protein: ENSMUSP00000031029 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
PX
|
1 |
105 |
3.42e-24 |
SMART |
B41
|
113 |
274 |
4.05e-2 |
SMART |
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077693
|
SMART Domains |
Protein: ENSMUSP00000076875 Gene: ENSMUSG00000029145
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
coiled coil region
|
29 |
60 |
N/A |
INTRINSIC |
coiled coil region
|
93 |
122 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
219 |
510 |
3.4e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114603
|
SMART Domains |
Protein: ENSMUSP00000110250 Gene: ENSMUSG00000029145
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166769
|
SMART Domains |
Protein: ENSMUSP00000130880 Gene: ENSMUSG00000029145
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200730
|
SMART Domains |
Protein: ENSMUSP00000144504 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201154
|
SMART Domains |
Protein: ENSMUSP00000143802 Gene: ENSMUSG00000029145
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201535
|
SMART Domains |
Protein: ENSMUSP00000144643 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
Blast:PX
|
1 |
23 |
3e-7 |
BLAST |
PDB:3LUI|C
|
1 |
23 |
3e-8 |
PDB |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
Blast:B41
|
36 |
169 |
5e-92 |
BLAST |
PDB:4GXB|A
|
36 |
169 |
4e-90 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201679
|
SMART Domains |
Protein: ENSMUSP00000144688 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
Pfam:PX
|
6 |
67 |
2.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202124
|
SMART Domains |
Protein: ENSMUSP00000144168 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
Blast:PX
|
1 |
31 |
6e-8 |
BLAST |
PDB:3LUI|C
|
1 |
31 |
4e-9 |
PDB |
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202758
|
SMART Domains |
Protein: ENSMUSP00000144361 Gene: ENSMUSG00000029145
Domain | Start | End | E-Value | Type |
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
coiled coil region
|
135 |
164 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
261 |
552 |
2.3e-97 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
4921539E11Rik |
T |
A |
4: 103,141,608 (GRCm39) |
I18L |
possibly damaging |
Het |
Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
Bmp7 |
G |
A |
2: 172,721,268 (GRCm39) |
P269L |
possibly damaging |
Het |
Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
Enah |
A |
T |
1: 181,746,107 (GRCm39) |
S654R |
unknown |
Het |
F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
Mndal |
A |
G |
1: 173,687,749 (GRCm39) |
F495S |
probably damaging |
Het |
Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,024,246 (GRCm39) |
V810A |
possibly damaging |
Het |
Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Eif2b4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01469:Eif2b4
|
APN |
5 |
31,345,111 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02525:Eif2b4
|
APN |
5 |
31,346,962 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03178:Eif2b4
|
APN |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03267:Eif2b4
|
APN |
5 |
31,350,003 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03379:Eif2b4
|
APN |
5 |
31,347,355 (GRCm39) |
splice site |
probably benign |
|
IGL03397:Eif2b4
|
APN |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0346:Eif2b4
|
UTSW |
5 |
31,345,452 (GRCm39) |
splice site |
probably benign |
|
R1549:Eif2b4
|
UTSW |
5 |
31,350,265 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1636:Eif2b4
|
UTSW |
5 |
31,349,610 (GRCm39) |
splice site |
probably null |
|
R1753:Eif2b4
|
UTSW |
5 |
31,350,284 (GRCm39) |
missense |
probably benign |
0.00 |
R2263:Eif2b4
|
UTSW |
5 |
31,349,918 (GRCm39) |
splice site |
probably benign |
|
R2317:Eif2b4
|
UTSW |
5 |
31,348,920 (GRCm39) |
splice site |
probably null |
|
R3808:Eif2b4
|
UTSW |
5 |
31,348,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3809:Eif2b4
|
UTSW |
5 |
31,348,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4746:Eif2b4
|
UTSW |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Eif2b4
|
UTSW |
5 |
31,348,575 (GRCm39) |
nonsense |
probably null |
|
R4798:Eif2b4
|
UTSW |
5 |
31,346,864 (GRCm39) |
intron |
probably benign |
|
R4895:Eif2b4
|
UTSW |
5 |
31,350,298 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Eif2b4
|
UTSW |
5 |
31,350,241 (GRCm39) |
missense |
probably benign |
0.00 |
R5588:Eif2b4
|
UTSW |
5 |
31,349,517 (GRCm39) |
nonsense |
probably null |
|
R5660:Eif2b4
|
UTSW |
5 |
31,348,500 (GRCm39) |
missense |
probably benign |
0.00 |
R6363:Eif2b4
|
UTSW |
5 |
31,348,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R6653:Eif2b4
|
UTSW |
5 |
31,349,551 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6750:Eif2b4
|
UTSW |
5 |
31,347,304 (GRCm39) |
missense |
probably damaging |
0.99 |
R7062:Eif2b4
|
UTSW |
5 |
31,350,175 (GRCm39) |
missense |
probably benign |
|
R7221:Eif2b4
|
UTSW |
5 |
31,345,131 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7360:Eif2b4
|
UTSW |
5 |
31,348,719 (GRCm39) |
missense |
probably benign |
0.08 |
R7779:Eif2b4
|
UTSW |
5 |
31,347,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Eif2b4
|
UTSW |
5 |
31,345,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R8848:Eif2b4
|
UTSW |
5 |
31,348,210 (GRCm39) |
missense |
probably damaging |
0.99 |
R8990:Eif2b4
|
UTSW |
5 |
31,347,971 (GRCm39) |
missense |
probably benign |
0.00 |
R9170:Eif2b4
|
UTSW |
5 |
31,345,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Eif2b4
|
UTSW |
5 |
31,348,500 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGCATCTAGCCCTTCAC -3'
(R):5'- GGACTCCGTTTCAGGAATGG -3'
Sequencing Primer
(F):5'- AGCCATGACTGTGGGTCCTAG -3'
(R):5'- GAAAAGTGCATGTTCCCTAAGGC -3'
|
Posted On |
2022-06-15 |