Incidental Mutation 'IGL01469:Eif2b4'
| ID |
88197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2b4
|
| Ensembl Gene |
ENSMUSG00000029145 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
| Synonyms |
Eif2b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01469
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31345111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 190
(D190G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000202758]
[ENSMUST00000201154]
|
| AlphaFold |
Q61749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077693
AA Change: D470G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145
AA Change: D470G
| 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: D490G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145
AA Change: D490G
| 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: D512G
|
| SMART Domains |
Protein: ENSMUSP00000110252
Gene: ENSMUSG00000029145
AA Change: D512G
| 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: D490G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145
AA Change: D490G
| 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
AA Change: D190G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202758
AA Change: D512G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145
AA Change: D512G
| 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: ENSMUST00000202468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,255,192 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,325,796 (GRCm39) |
E60K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,471,401 (GRCm39) |
|
probably null |
Het |
| Ccdc107 |
A |
G |
4: 43,495,751 (GRCm39) |
N218S |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,433,504 (GRCm39) |
M60K |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,934,567 (GRCm39) |
Q378R |
probably damaging |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,510 (GRCm39) |
D164V |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,902,688 (GRCm39) |
|
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,558,884 (GRCm39) |
N448S |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,937,039 (GRCm39) |
N328S |
probably benign |
Het |
| Gbf1 |
A |
T |
19: 46,267,803 (GRCm39) |
E1271V |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,725 (GRCm39) |
V16D |
probably damaging |
Het |
| Ighv2-4 |
A |
G |
12: 113,616,966 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
A |
16: 22,818,577 (GRCm39) |
K305I |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,420,283 (GRCm39) |
R900Q |
probably damaging |
Het |
| Maml1 |
A |
G |
11: 50,157,353 (GRCm39) |
M274T |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,758,495 (GRCm39) |
E278G |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,499,330 (GRCm39) |
T164A |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,257,093 (GRCm39) |
S135R |
probably benign |
Het |
| Nrbf2 |
A |
G |
10: 67,105,919 (GRCm39) |
L41P |
probably damaging |
Het |
| Or10a48 |
A |
G |
7: 108,424,534 (GRCm39) |
V224A |
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
| Or1o11 |
T |
A |
17: 37,756,426 (GRCm39) |
S5T |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,595 (GRCm39) |
M307K |
probably benign |
Het |
| Or6c6 |
A |
G |
10: 129,186,449 (GRCm39) |
M6V |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,754,496 (GRCm39) |
|
probably null |
Het |
| Plxnb1 |
T |
C |
9: 108,934,483 (GRCm39) |
|
probably benign |
Het |
| Ppp1r42 |
A |
T |
1: 10,073,458 (GRCm39) |
|
probably null |
Het |
| Rad54l2 |
T |
A |
9: 106,599,957 (GRCm39) |
K100M |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,342,167 (GRCm39) |
T308S |
possibly damaging |
Het |
| Scaper |
T |
C |
9: 55,767,051 (GRCm39) |
D466G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,744,697 (GRCm39) |
I796L |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,405,477 (GRCm39) |
L476P |
probably damaging |
Het |
| Shkbp1 |
T |
C |
7: 27,055,366 (GRCm39) |
T6A |
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,198,781 (GRCm39) |
I783N |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,186,529 (GRCm39) |
D447G |
possibly damaging |
Het |
| Tekt3 |
T |
G |
11: 62,964,294 (GRCm39) |
I208S |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,689,458 (GRCm39) |
V2043E |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,866,414 (GRCm39) |
Y111H |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 114,915,664 (GRCm39) |
R459* |
probably null |
Het |
| Vmn2r109 |
T |
C |
17: 20,761,671 (GRCm39) |
Y562C |
probably damaging |
Het |
|
| Other mutations in Eif2b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation