Incidental Mutation 'R3808:Eif2b4'
ID |
275028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b4
|
Ensembl Gene |
ENSMUSG00000029145 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
Synonyms |
Eif2b |
MMRRC Submission |
040765-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3808 (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 G
at 31348512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 88
(S88P)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000202124]
[ENSMUST00000201535]
[ENSMUST00000200730]
[ENSMUST00000201154]
[ENSMUST00000201679]
[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: S192P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076875 Gene: ENSMUSG00000029145 AA Change: S192P
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: S212P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110250 Gene: ENSMUSG00000029145 AA Change: S212P
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
AA Change: S234P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000110252 Gene: ENSMUSG00000029145 AA Change: S234P
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
AA Change: S212P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130880 Gene: ENSMUSG00000029145 AA Change: S212P
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 |
possibly damaging
Transcript: ENSMUST00000200724
AA Change: S88P
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
AA Change: S11P
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
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: 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: 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: 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: 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: ENSMUST00000202758
AA Change: S234P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000144361 Gene: ENSMUSG00000029145 AA Change: S234P
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: ENSMUST00000202318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aldh3a2 |
G |
T |
11: 61,149,623 (GRCm39) |
L248M |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,209,609 (GRCm39) |
S1458P |
probably benign |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
Arhgap5 |
A |
G |
12: 52,613,970 (GRCm39) |
E192G |
possibly damaging |
Het |
Atg2a |
A |
G |
19: 6,302,846 (GRCm39) |
K1019R |
possibly damaging |
Het |
Atp2b1 |
A |
G |
10: 98,839,010 (GRCm39) |
K613E |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,498,258 (GRCm39) |
C421R |
probably damaging |
Het |
Cdh17 |
A |
T |
4: 11,795,671 (GRCm39) |
Y417F |
probably damaging |
Het |
Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
Clptm1l |
A |
C |
13: 73,760,573 (GRCm39) |
M319L |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
Creb3l2 |
A |
G |
6: 37,332,625 (GRCm39) |
S290P |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,722,809 (GRCm39) |
V305G |
probably damaging |
Het |
Dtl |
A |
C |
1: 191,280,466 (GRCm39) |
L356R |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,732,289 (GRCm39) |
|
probably null |
Het |
Fat4 |
T |
G |
3: 39,036,587 (GRCm39) |
V3413G |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,801,578 (GRCm39) |
M218V |
probably benign |
Het |
Grin2b |
A |
G |
6: 135,900,269 (GRCm39) |
L204P |
probably damaging |
Het |
Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,307,047 (GRCm39) |
D389E |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,625,269 (GRCm39) |
N2274S |
probably benign |
Het |
Nr3c2 |
G |
A |
8: 77,635,343 (GRCm39) |
G148D |
probably damaging |
Het |
Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,977,027 (GRCm39) |
|
probably benign |
Het |
Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
Plin3 |
C |
A |
17: 56,593,275 (GRCm39) |
A96S |
probably damaging |
Het |
Pnck |
T |
A |
X: 72,700,550 (GRCm39) |
I288F |
probably damaging |
Het |
Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
Prss43 |
A |
T |
9: 110,656,840 (GRCm39) |
R115S |
probably damaging |
Het |
Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
Rdh16f1 |
T |
A |
10: 127,624,568 (GRCm39) |
D135E |
probably benign |
Het |
Rdh16f1 |
G |
A |
10: 127,624,569 (GRCm39) |
V136M |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,189,698 (GRCm39) |
E702G |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,384 (GRCm39) |
K4728E |
probably damaging |
Het |
Ros1 |
T |
G |
10: 51,996,944 (GRCm39) |
T1243P |
probably benign |
Het |
Sall1 |
G |
A |
8: 89,758,101 (GRCm39) |
Q668* |
probably null |
Het |
Sbf2 |
C |
A |
7: 110,088,487 (GRCm39) |
*45L |
probably null |
Het |
Serpina3j |
A |
T |
12: 104,286,086 (GRCm39) |
I414F |
probably benign |
Het |
Sh2d3c |
T |
C |
2: 32,636,108 (GRCm39) |
Y159H |
probably damaging |
Het |
Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
Slc22a13 |
T |
C |
9: 119,025,143 (GRCm39) |
T178A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,736,536 (GRCm39) |
L588H |
probably damaging |
Het |
Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,466,772 (GRCm39) |
V654A |
probably benign |
Het |
Vmn1r202 |
T |
C |
13: 22,686,070 (GRCm39) |
T116A |
possibly damaging |
Het |
Zfp267 |
T |
G |
3: 36,219,792 (GRCm39) |
|
probably null |
Het |
Zfp607a |
G |
A |
7: 27,578,826 (GRCm39) |
R632H |
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 |
|
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'- ACTTGAGTACCTCTTGGCCC -3'
(R):5'- CTCCTTAGAAAGCCAGATCGAC -3'
Sequencing Primer
(F):5'- CCTGCCCCTCATGAGAAGG -3'
(R):5'- TGGTACCTGGAGAATTGCCC -3'
|
Posted On |
2015-04-02 |