Incidental Mutation 'R5588:Eif2b4'
| ID |
438881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b4
|
| Ensembl Gene |
ENSMUSG00000029145 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
| Synonyms |
Eif2b |
| MMRRC Submission |
043268-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5588 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 31349517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 101
(C101*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000201154]
[ENSMUST00000200730]
[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
AA Change: V64E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: V64E
| 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 damaging
Transcript: ENSMUST00000114603
AA Change: V84E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: V84E
| 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: ENSMUST00000130667
AA Change: C101*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134888
AA Change: V244E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139216
AA Change: V56E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166769
AA Change: V84E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: V84E
| 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 |
noncoding transcript
Transcript: ENSMUST00000200983
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201154
AA Change: V84E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145
AA Change: V84E
| 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: ENSMUST00000202318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
| 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: 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: ENSMUST00000200724
|
| 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: ENSMUST00000200977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202758
AA Change: V106E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: V106E
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202616
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
A |
15: 81,949,417 (GRCm39) |
Q1105K |
possibly damaging |
Het |
| Afg3l2 |
A |
T |
18: 67,573,277 (GRCm39) |
V175D |
possibly damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,190,732 (GRCm39) |
R325H |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,438,878 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,972,027 (GRCm39) |
L43P |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,256,937 (GRCm39) |
|
probably null |
Het |
| Ccdc85c |
T |
C |
12: 108,177,793 (GRCm39) |
Y320C |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,293,886 (GRCm39) |
L290* |
probably null |
Het |
| Cyp2c66 |
A |
G |
19: 39,151,858 (GRCm39) |
D191G |
possibly damaging |
Het |
| Dhx34 |
T |
C |
7: 15,932,825 (GRCm39) |
H1038R |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,859,772 (GRCm39) |
V686A |
probably benign |
Het |
| Eif4a3 |
A |
C |
11: 119,186,952 (GRCm39) |
S84A |
probably benign |
Het |
| Elfn2 |
T |
C |
15: 78,558,076 (GRCm39) |
D157G |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,173,103 (GRCm39) |
I2537F |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,659,248 (GRCm39) |
F350L |
probably damaging |
Het |
| Fgd3 |
A |
T |
13: 49,440,786 (GRCm39) |
L215Q |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,372,783 (GRCm39) |
V73A |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,599,166 (GRCm39) |
T690S |
probably damaging |
Het |
| Gask1a |
C |
T |
9: 121,794,247 (GRCm39) |
Q134* |
probably null |
Het |
| Gm14418 |
A |
T |
2: 177,079,065 (GRCm39) |
I310K |
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,921,584 (GRCm39) |
N528K |
probably benign |
Het |
| Gsap |
A |
C |
5: 21,456,147 (GRCm39) |
E417A |
probably damaging |
Het |
| Kcnab1 |
A |
C |
3: 65,283,976 (GRCm39) |
D398A |
possibly damaging |
Het |
| Kif5b |
T |
G |
18: 6,225,787 (GRCm39) |
N160T |
probably benign |
Het |
| Lilrb4b |
G |
A |
10: 51,357,422 (GRCm39) |
R86Q |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,134,026 (GRCm39) |
|
probably null |
Het |
| Mlph |
T |
C |
1: 90,859,321 (GRCm39) |
S219P |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,376,697 (GRCm39) |
I95T |
possibly damaging |
Het |
| Nedd9 |
A |
T |
13: 41,469,437 (GRCm39) |
I572N |
possibly damaging |
Het |
| Nup155 |
G |
A |
15: 8,148,737 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
T |
C |
2: 38,850,047 (GRCm39) |
S588P |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,269,760 (GRCm39) |
R288G |
probably damaging |
Het |
| Or4c12 |
T |
A |
2: 89,774,136 (GRCm39) |
T108S |
probably benign |
Het |
| Or6c1 |
T |
G |
10: 129,517,705 (GRCm39) |
N301T |
possibly damaging |
Het |
| Parva |
C |
A |
7: 112,159,269 (GRCm39) |
N142K |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,838,412 (GRCm39) |
S4678R |
unknown |
Het |
| Pcnt |
T |
C |
10: 76,278,445 (GRCm39) |
D3G |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,374,367 (GRCm39) |
S1923A |
possibly damaging |
Het |
| Per1 |
G |
A |
11: 68,998,453 (GRCm39) |
G1055D |
probably damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,249 (GRCm39) |
Q518* |
probably null |
Het |
| Plb1 |
G |
A |
5: 32,487,293 (GRCm39) |
|
probably null |
Het |
| Ppp1r14a |
C |
T |
7: 28,992,709 (GRCm39) |
P137L |
probably damaging |
Het |
| Rfx2 |
A |
T |
17: 57,086,890 (GRCm39) |
S612T |
possibly damaging |
Het |
| Rtel1 |
T |
C |
2: 180,993,893 (GRCm39) |
F642L |
probably benign |
Het |
| Sec14l3 |
T |
C |
11: 4,016,138 (GRCm39) |
F19S |
probably damaging |
Het |
| Skint8 |
A |
T |
4: 111,794,089 (GRCm39) |
M160L |
probably benign |
Het |
| Slc19a3 |
G |
T |
1: 83,000,776 (GRCm39) |
Y80* |
probably null |
Het |
| Slc37a1 |
T |
A |
17: 31,565,431 (GRCm39) |
W489R |
probably damaging |
Het |
| Smc4 |
A |
G |
3: 68,933,190 (GRCm39) |
I604V |
probably benign |
Het |
| Srprb |
G |
T |
9: 103,076,048 (GRCm39) |
Y796* |
probably null |
Het |
| Tdrd7 |
T |
A |
4: 45,992,225 (GRCm39) |
S220T |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,067,215 (GRCm39) |
F2215S |
probably damaging |
Het |
| Ticrr |
C |
T |
7: 79,328,853 (GRCm39) |
A664V |
probably damaging |
Het |
| Tnc |
T |
G |
4: 63,924,659 (GRCm39) |
D1013A |
possibly damaging |
Het |
| Tpte |
T |
A |
8: 22,774,983 (GRCm39) |
Y18N |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,339 (GRCm39) |
Q386L |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,512 (GRCm39) |
V43A |
possibly damaging |
Het |
| Vmn2r130 |
A |
T |
17: 23,282,803 (GRCm39) |
Q161L |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,468,198 (GRCm39) |
D2785E |
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 |
|
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 |
|
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'- AGAGATCCACCTGTCTTTGC -3'
(R):5'- TGATAAACCTTTGGAATGGCCTG -3'
Sequencing Primer
(F):5'- TGGAATTCATCAGAGATCCACCTG -3'
(R):5'- TGGGGTAGAGCAGTTCCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation