Incidental Mutation 'R6361:Eif2b3'
ID |
513110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b3
|
Ensembl Gene |
ENSMUSG00000028683 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 3 |
Synonyms |
1190002P15Rik |
MMRRC Submission |
044511-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6361 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116876559-116944049 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116885622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 55
(T55A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070610]
[ENSMUST00000106447]
[ENSMUST00000106448]
|
AlphaFold |
B1AUN2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070610
AA Change: T55A
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070334 Gene: ENSMUSG00000028683 AA Change: T55A
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 |
possibly damaging
Transcript: ENSMUST00000106447
AA Change: T55A
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102055 Gene: ENSMUSG00000028683 AA Change: T55A
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: T55A
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102056 Gene: ENSMUSG00000028683 AA Change: T55A
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
|
Meta Mutation Damage Score |
0.0780 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
Clec18a |
A |
G |
8: 111,807,661 (GRCm39) |
|
probably benign |
Het |
Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
Dhrs7 |
A |
C |
12: 72,711,433 (GRCm39) |
L32V |
probably damaging |
Het |
Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
Rundc3a |
G |
A |
11: 102,291,621 (GRCm39) |
R358Q |
probably damaging |
Het |
Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
Usp37 |
A |
G |
1: 74,493,052 (GRCm39) |
I723T |
probably benign |
Het |
Vwa2 |
A |
T |
19: 56,889,958 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
Zfp422 |
G |
A |
6: 116,603,781 (GRCm39) |
H73Y |
probably damaging |
Het |
Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
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 |
IGL01564:Eif2b3
|
APN |
4 |
116,885,739 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGCTCAGTCATATTAGCATTTATCAT -3'
(R):5'- ACATACAAAGCACTGTCAAATAAGAT -3'
Sequencing Primer
(F):5'- GATTCTATACGCTGGCTTTGAAC -3'
(R):5'- AATCTGCAGTCCCCATGT -3'
|
Posted On |
2018-04-27 |