Incidental Mutation 'R4752:Eif2b4'
| ID |
357664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b4
|
| Ensembl Gene |
ENSMUSG00000029145 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
| Synonyms |
Eif2b |
| MMRRC Submission |
042032-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 31348575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 213
(R213*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201535]
[ENSMUST00000201679]
[ENSMUST00000202124]
[ENSMUST00000201154]
[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 null
Transcript: ENSMUST00000077693
AA Change: R171*
|
| SMART Domains |
Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: R171*
| 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 null
Transcript: ENSMUST00000114603
AA Change: R191*
|
| SMART Domains |
Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: R191*
| 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 null
Transcript: ENSMUST00000166769
AA Change: R191*
|
| SMART Domains |
Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: R191*
| 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 null
Transcript: ENSMUST00000200724
AA Change: R67*
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000200983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
| 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: ENSMUST00000200929
|
| 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: 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: ENSMUST00000200977
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202758
AA Change: R213*
|
| SMART Domains |
Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: R213*
| 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: ENSMUST00000202743
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (68/69) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,775,751 (GRCm39) |
Q1647K |
possibly damaging |
Het |
| Abcf3 |
A |
G |
16: 20,369,326 (GRCm39) |
E236G |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,654,218 (GRCm39) |
T483A |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,517,426 (GRCm39) |
P465Q |
probably null |
Het |
| Babam2 |
C |
T |
5: 31,859,391 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,058,200 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
T |
A |
14: 51,031,122 (GRCm39) |
T64S |
possibly damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,136,102 (GRCm39) |
V46A |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,584,254 (GRCm39) |
D708E |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,197,273 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,286,219 (GRCm39) |
|
probably null |
Het |
| Dgka |
A |
T |
10: 128,572,528 (GRCm39) |
F42I |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,112,491 (GRCm39) |
V1059E |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,496,364 (GRCm39) |
I3K |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,426,856 (GRCm39) |
D704G |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,437,197 (GRCm39) |
E125G |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,434,153 (GRCm39) |
N412S |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,233,225 (GRCm39) |
M570V |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,729,349 (GRCm39) |
Q632* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,929,573 (GRCm39) |
W56R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,637 (GRCm39) |
I418M |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,699,295 (GRCm39) |
T154I |
probably damaging |
Het |
| Lyl1 |
A |
T |
8: 85,430,910 (GRCm39) |
T271S |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,336,895 (GRCm39) |
I333V |
probably damaging |
Het |
| Meioc |
A |
G |
11: 102,565,259 (GRCm39) |
T236A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,532,538 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Nfib |
T |
A |
4: 82,215,016 (GRCm39) |
Q529L |
probably damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nisch |
A |
T |
14: 30,914,545 (GRCm39) |
F42L |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,706,626 (GRCm39) |
Y547N |
probably damaging |
Het |
| Or10g3 |
C |
T |
14: 52,609,764 (GRCm39) |
V249I |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,515 (GRCm39) |
S150P |
possibly damaging |
Het |
| Or5l14 |
A |
G |
2: 87,792,693 (GRCm39) |
L181P |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,266 (GRCm39) |
Y136C |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,709,563 (GRCm39) |
N117I |
probably damaging |
Het |
| Prkn |
T |
C |
17: 12,223,010 (GRCm39) |
S387P |
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,387,508 (GRCm39) |
K164N |
probably benign |
Het |
| Prr23a3 |
T |
A |
9: 98,747,700 (GRCm39) |
L218Q |
probably damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,836 (GRCm39) |
H114R |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,878,296 (GRCm39) |
M142K |
probably damaging |
Het |
| Shisa7 |
G |
A |
7: 4,837,249 (GRCm39) |
T89I |
possibly damaging |
Het |
| Slco1a1 |
C |
T |
6: 141,892,340 (GRCm39) |
A9T |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,158,172 (GRCm39) |
|
probably benign |
Het |
| Tdg-ps |
G |
A |
15: 82,400,572 (GRCm39) |
|
noncoding transcript |
Het |
| Tgm4 |
A |
G |
9: 122,880,451 (GRCm39) |
D284G |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,804,013 (GRCm39) |
I355F |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,995 (GRCm39) |
F241I |
possibly damaging |
Het |
| Tmem200c |
T |
A |
17: 69,149,235 (GRCm39) |
V606E |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,861,782 (GRCm39) |
K370R |
probably benign |
Het |
| Vmn2r87 |
G |
A |
10: 130,314,336 (GRCm39) |
Q417* |
probably null |
Het |
| Vps45 |
T |
C |
3: 95,955,699 (GRCm39) |
Y97C |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,581,039 (GRCm39) |
S25P |
probably benign |
Het |
| Zfp566 |
A |
G |
7: 29,777,306 (GRCm39) |
S292P |
probably 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 |
|
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 |
|
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'- AACTTGAGTACCTCTTGGCCC -3'
(R):5'- ATGACCCCACACTTCTGAGGAG -3'
Sequencing Primer
(F):5'- CTCATGAGAAGGGGCTTCC -3'
(R):5'- GGCTCCTTAGAAAGCCAGATCG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation