Incidental Mutation 'IGL01564:Eif2b3'
| ID |
90938 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif2b3
|
| Ensembl Gene |
ENSMUSG00000028683 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 3 |
| Synonyms |
1190002P15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01564
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116876559-116944049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116885739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 94
(Y94H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070610]
[ENSMUST00000106447]
[ENSMUST00000106448]
|
| AlphaFold |
B1AUN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070610
AA Change: Y94H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: Y94H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
4 |
139 |
8.2e-20 |
PFAM |
|
Pfam:NTP_transf_3
|
5 |
226 |
8.5e-19 |
PFAM |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106447
AA Change: Y94H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: Y94H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
4 |
139 |
1.1e-19 |
PFAM |
|
Pfam:NTP_transf_3
|
5 |
221 |
1.7e-18 |
PFAM |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106448
AA Change: Y94H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: Y94H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTP_transferase
|
4 |
140 |
3.2e-19 |
PFAM |
|
Pfam:NTP_transf_3
|
5 |
237 |
3.7e-18 |
PFAM |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157724
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
A |
10: 80,442,693 (GRCm39) |
M177K |
probably damaging |
Het |
| Ankrd28 |
G |
T |
14: 31,477,724 (GRCm39) |
T48K |
probably damaging |
Het |
| Capn3 |
T |
C |
2: 120,311,189 (GRCm39) |
I112T |
probably damaging |
Het |
| Clec3a |
T |
A |
8: 115,152,282 (GRCm39) |
I96N |
probably damaging |
Het |
| Clic4 |
C |
T |
4: 134,944,504 (GRCm39) |
A224T |
probably damaging |
Het |
| Ep300 |
A |
T |
15: 81,516,665 (GRCm39) |
|
probably benign |
Het |
| Errfi1 |
C |
A |
4: 150,951,487 (GRCm39) |
T305N |
probably damaging |
Het |
| Fam131c |
T |
A |
4: 141,106,984 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
G |
A |
17: 88,310,324 (GRCm39) |
T494I |
probably benign |
Het |
| Homer2 |
T |
C |
7: 81,268,320 (GRCm39) |
|
probably null |
Het |
| Hpf1 |
C |
A |
8: 61,343,513 (GRCm39) |
|
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,525 (GRCm39) |
N487D |
probably benign |
Het |
| Ikbke |
C |
A |
1: 131,185,658 (GRCm39) |
A617S |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,551,084 (GRCm39) |
R174S |
possibly damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,003,663 (GRCm39) |
F139S |
probably benign |
Het |
| Lipo2 |
T |
C |
19: 33,698,424 (GRCm39) |
T318A |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,567,498 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
T |
C |
7: 34,088,780 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,345 (GRCm39) |
D393G |
probably benign |
Het |
| Nfyb |
T |
C |
10: 82,588,260 (GRCm39) |
Y137C |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,648,299 (GRCm39) |
D10G |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,648 (GRCm39) |
H194L |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,198 (GRCm39) |
I198T |
probably benign |
Het |
| Scn3a |
A |
C |
2: 65,291,790 (GRCm39) |
I1652S |
probably damaging |
Het |
| Slc33a1 |
C |
T |
3: 63,850,768 (GRCm39) |
V519I |
probably benign |
Het |
| Strada |
G |
T |
11: 106,064,118 (GRCm39) |
N66K |
probably damaging |
Het |
| Thoc2l |
A |
T |
5: 104,668,529 (GRCm39) |
Y1017F |
probably benign |
Het |
| Tlr1 |
T |
A |
5: 65,083,189 (GRCm39) |
I463F |
probably damaging |
Het |
| Tnfrsf19 |
G |
T |
14: 61,212,058 (GRCm39) |
F197L |
possibly damaging |
Het |
| Tph1 |
T |
A |
7: 46,300,305 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,646,922 (GRCm39) |
L3287H |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,633 (GRCm39) |
S164T |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,444,995 (GRCm39) |
V1755I |
unknown |
Het |
| Zmym4 |
T |
C |
4: 126,805,073 (GRCm39) |
I396V |
possibly damaging |
Het |
|
| Other mutations in Eif2b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00764:Eif2b3
|
APN |
4 |
116,923,666 (GRCm39) |
missense |
probably benign |
|
|
IGL01333:Eif2b3
|
APN |
4 |
116,927,887 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01721:Eif2b3
|
APN |
4 |
116,916,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02061:Eif2b3
|
APN |
4 |
116,885,608 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Cambio
|
UTSW |
4 |
116,923,578 (GRCm39) |
nonsense |
probably null |
|
|
mogrify
|
UTSW |
4 |
116,885,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0835:Eif2b3
|
UTSW |
4 |
116,916,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Eif2b3
|
UTSW |
4 |
116,938,775 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2167:Eif2b3
|
UTSW |
4 |
116,885,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Eif2b3
|
UTSW |
4 |
116,928,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3902:Eif2b3
|
UTSW |
4 |
116,879,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Eif2b3
|
UTSW |
4 |
116,938,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Eif2b3
|
UTSW |
4 |
116,916,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4998:Eif2b3
|
UTSW |
4 |
116,923,589 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5033:Eif2b3
|
UTSW |
4 |
116,909,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Eif2b3
|
UTSW |
4 |
116,879,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Eif2b3
|
UTSW |
4 |
116,943,919 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5787:Eif2b3
|
UTSW |
4 |
116,901,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Eif2b3
|
UTSW |
4 |
116,885,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Eif2b3
|
UTSW |
4 |
116,901,763 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6361:Eif2b3
|
UTSW |
4 |
116,885,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6643:Eif2b3
|
UTSW |
4 |
116,927,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6798:Eif2b3
|
UTSW |
4 |
116,923,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7299:Eif2b3
|
UTSW |
4 |
116,910,019 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7301:Eif2b3
|
UTSW |
4 |
116,910,019 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7451:Eif2b3
|
UTSW |
4 |
116,909,993 (GRCm39) |
nonsense |
probably null |
|
|
R7934:Eif2b3
|
UTSW |
4 |
116,923,675 (GRCm39) |
missense |
probably benign |
|
|
R8117:Eif2b3
|
UTSW |
4 |
116,879,414 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8725:Eif2b3
|
UTSW |
4 |
116,927,944 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8727:Eif2b3
|
UTSW |
4 |
116,927,944 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8816:Eif2b3
|
UTSW |
4 |
116,928,052 (GRCm39) |
missense |
probably benign |
|
|
R8943:Eif2b3
|
UTSW |
4 |
116,901,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9141:Eif2b3
|
UTSW |
4 |
116,923,578 (GRCm39) |
nonsense |
probably null |
|
|
R9426:Eif2b3
|
UTSW |
4 |
116,923,578 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation