Incidental Mutation 'R5660:Eif2b4'
| ID |
444027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b4
|
| Ensembl Gene |
ENSMUSG00000029145 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
| Synonyms |
Eif2b |
| MMRRC Submission |
043173-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31348500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 238
(Y238N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201535]
[ENSMUST00000201679]
[ENSMUST00000201154]
[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
AA Change: Y196N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: Y196N
| 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
AA Change: Y216N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: Y216N
| 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
AA Change: Y216N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: Y216N
| 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 |
unknown
Transcript: ENSMUST00000200929
AA Change: Y15N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202616
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200977
|
| 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: 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: 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
AA Change: Y238N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: Y238N
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,828 (GRCm39) |
N1307S |
probably benign |
Het |
| Abcf1 |
A |
T |
17: 36,274,539 (GRCm39) |
D41E |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,886,761 (GRCm39) |
V966A |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,667,472 (GRCm39) |
D470V |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,901 (GRCm39) |
F261L |
probably damaging |
Het |
| Akap3 |
C |
T |
6: 126,842,254 (GRCm39) |
A291V |
probably damaging |
Het |
| Akr1c6 |
G |
A |
13: 4,499,053 (GRCm39) |
V214I |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,255 (GRCm39) |
I238F |
possibly damaging |
Het |
| Atg2b |
A |
T |
12: 105,615,383 (GRCm39) |
Y1024* |
probably null |
Het |
| Cad |
T |
A |
5: 31,234,191 (GRCm39) |
D1956E |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,843,220 (GRCm39) |
I237N |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,542,337 (GRCm39) |
T180A |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,313,686 (GRCm39) |
N1303K |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,873,315 (GRCm39) |
S2227P |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,972,722 (GRCm39) |
M324K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,321,574 (GRCm39) |
K4363R |
probably damaging |
Het |
| Fam83c |
G |
A |
2: 155,671,509 (GRCm39) |
A642V |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,175,002 (GRCm39) |
T1904S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,306,291 (GRCm39) |
N279S |
possibly damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,397 (GRCm39) |
N374S |
probably benign |
Het |
| Gm14401 |
T |
A |
2: 176,778,224 (GRCm39) |
H103Q |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,048 (GRCm39) |
|
noncoding transcript |
Het |
| Helb |
G |
A |
10: 119,946,984 (GRCm39) |
Q110* |
probably null |
Het |
| Ido1 |
T |
C |
8: 25,081,558 (GRCm39) |
D41G |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,898,152 (GRCm39) |
S805P |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,147 (GRCm39) |
A24E |
probably damaging |
Het |
| Mmp23 |
C |
T |
4: 155,735,710 (GRCm39) |
C287Y |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,087,918 (GRCm39) |
R147G |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,292,147 (GRCm39) |
K301E |
possibly damaging |
Het |
| Or12d13 |
A |
G |
17: 37,647,535 (GRCm39) |
L196P |
probably damaging |
Het |
| Or8g4 |
G |
A |
9: 39,662,063 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,776 (GRCm39) |
C60S |
probably benign |
Het |
| Rora |
A |
G |
9: 68,561,203 (GRCm39) |
S11G |
probably benign |
Het |
| Rps6ka5 |
G |
T |
12: 100,585,839 (GRCm39) |
H151Q |
possibly damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,807 (GRCm39) |
S100P |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,694,902 (GRCm39) |
T1229A |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,248,804 (GRCm39) |
Y62H |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Smg1 |
C |
T |
7: 117,742,570 (GRCm39) |
V3215I |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,617,579 (GRCm39) |
P285L |
possibly damaging |
Het |
| Themis2 |
T |
C |
4: 132,523,567 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
G |
4: 43,547,732 (GRCm39) |
V743A |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,150,495 (GRCm39) |
N462Y |
possibly damaging |
Het |
| Wnt2 |
T |
A |
6: 18,028,145 (GRCm39) |
M30L |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,576,365 (GRCm39) |
I239V |
probably benign |
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 |
|
|
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'- ACTTGAGTACCTCTTGGCCC -3'
(R):5'- GCTCCTTAGAAAGCCAGATCG -3'
Sequencing Primer
(F):5'- CCTGCCCCTCATGAGAAGG -3'
(R):5'- TGGTACCTGGAGAATTGCCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation