Incidental Mutation 'R2263:Eif2b4'
ID |
243916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b4
|
Ensembl Gene |
ENSMUSG00000029145 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
Synonyms |
Eif2b |
MMRRC Submission |
040263-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2263 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 31349918 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]
[ENSMUST00000201679]
[ENSMUST00000201535]
[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: ENSMUST00000114605
|
SMART Domains |
Protein: ENSMUSP00000110252 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 |
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000202468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
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: ENSMUST00000200741
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
|
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: ENSMUST00000200977
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202616
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202743
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
98% (57/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,224,702 (GRCm39) |
S472P |
probably benign |
Het |
Armh3 |
A |
G |
19: 45,920,788 (GRCm39) |
|
probably null |
Het |
Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
Atp2b4 |
C |
T |
1: 133,654,271 (GRCm39) |
R778Q |
probably benign |
Het |
Bdp1 |
T |
A |
13: 100,202,545 (GRCm39) |
D693V |
probably damaging |
Het |
Car12 |
C |
A |
9: 66,654,913 (GRCm39) |
Y114* |
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
A |
G |
8: 11,362,586 (GRCm39) |
|
probably benign |
Het |
Cryl1 |
G |
T |
14: 57,523,865 (GRCm39) |
Y232* |
probably null |
Het |
Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,892,809 (GRCm39) |
N798S |
probably damaging |
Het |
Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
Ehbp1 |
A |
T |
11: 22,045,462 (GRCm39) |
N737K |
probably benign |
Het |
Elp1 |
A |
G |
4: 56,755,298 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
C |
3: 38,943,138 (GRCm39) |
V677A |
possibly damaging |
Het |
Fbn2 |
A |
G |
18: 58,228,248 (GRCm39) |
|
probably benign |
Het |
Fbxl3 |
G |
T |
14: 103,320,648 (GRCm39) |
Y314* |
probably null |
Het |
Fgf12 |
T |
A |
16: 28,008,363 (GRCm39) |
K84* |
probably null |
Het |
Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
Folh1 |
C |
T |
7: 86,368,973 (GRCm39) |
S685N |
probably benign |
Het |
Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
Hdac7 |
A |
G |
15: 97,708,732 (GRCm39) |
|
probably null |
Het |
Heatr5a |
A |
T |
12: 51,962,933 (GRCm39) |
V989E |
probably damaging |
Het |
Kif12 |
A |
G |
4: 63,087,758 (GRCm39) |
S242P |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
Nmur2 |
A |
T |
11: 55,920,387 (GRCm39) |
V286E |
probably damaging |
Het |
Or1ad6 |
G |
A |
11: 50,860,696 (GRCm39) |
V284I |
possibly damaging |
Het |
Or1e1 |
T |
A |
11: 73,245,131 (GRCm39) |
L184Q |
possibly damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
Pramel31 |
A |
G |
4: 144,090,111 (GRCm39) |
I384V |
probably benign |
Het |
Prex1 |
A |
T |
2: 166,430,988 (GRCm39) |
|
probably benign |
Het |
Prim1 |
T |
A |
10: 127,851,132 (GRCm39) |
D5E |
probably benign |
Het |
Rubcnl |
A |
T |
14: 75,278,260 (GRCm39) |
N348I |
possibly damaging |
Het |
Shisa9 |
G |
T |
16: 11,802,631 (GRCm39) |
A63S |
possibly damaging |
Het |
Shpk |
G |
A |
11: 73,097,319 (GRCm39) |
|
probably benign |
Het |
Slx4ip |
T |
C |
2: 136,885,935 (GRCm39) |
I85T |
probably damaging |
Het |
Sptbn4 |
T |
A |
7: 27,133,782 (GRCm39) |
D77V |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,690,006 (GRCm39) |
|
probably null |
Het |
Synrg |
T |
C |
11: 83,867,978 (GRCm39) |
M61T |
possibly damaging |
Het |
Tekt4 |
T |
A |
17: 25,695,485 (GRCm39) |
S439R |
possibly damaging |
Het |
Ticam1 |
A |
T |
17: 56,578,888 (GRCm39) |
V69E |
possibly damaging |
Het |
Trpv1 |
C |
T |
11: 73,132,508 (GRCm39) |
A374V |
probably damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,842 (GRCm39) |
L416* |
probably null |
Het |
Uqcrfs1 |
G |
A |
13: 30,725,090 (GRCm39) |
S150L |
probably benign |
Het |
Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,646,327 (GRCm39) |
V1477E |
probably benign |
Het |
Wdr87-ps |
T |
C |
7: 29,231,987 (GRCm39) |
|
noncoding transcript |
Het |
Xpo1 |
T |
A |
11: 23,234,634 (GRCm39) |
|
probably null |
Het |
Xpo5 |
A |
G |
17: 46,541,269 (GRCm39) |
I769V |
probably benign |
Het |
Zc3h14 |
A |
T |
12: 98,724,773 (GRCm39) |
H252L |
probably benign |
Het |
Zfp410 |
G |
T |
12: 84,369,794 (GRCm39) |
|
probably null |
Het |
Zfp521 |
T |
C |
18: 13,979,297 (GRCm39) |
E372G |
possibly damaging |
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 |
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 |
|
R9458:Eif2b4
|
UTSW |
5 |
31,350,609 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGACACGGGAACTGCTCTAC -3'
(R):5'- GGTTTACAAGATCTAGGGCGC -3'
Sequencing Primer
(F):5'- GCTTACTAGATTCCCCCAAGGTTAAG -3'
(R):5'- TGCCGGCTGTTCCCAGAAG -3'
|
Posted On |
2014-10-16 |