Incidental Mutation 'R2167:Eif2b3'
| ID |
235533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b3
|
| Ensembl Gene |
ENSMUSG00000028683 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 3 |
| Synonyms |
1190002P15Rik |
| MMRRC Submission |
040170-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116876559-116944049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116885737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 93
(I93N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070610]
[ENSMUST00000106447]
[ENSMUST00000106448]
|
| AlphaFold |
B1AUN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070610
AA Change: I93N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: I93N
| 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 damaging
Transcript: ENSMUST00000106447
AA Change: I93N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: I93N
| 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 damaging
Transcript: ENSMUST00000106448
AA Change: I93N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: I93N
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,532 (GRCm39) |
T710M |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Acsl1 |
A |
G |
8: 46,986,627 (GRCm39) |
D638G |
possibly damaging |
Het |
| Acsl6 |
C |
A |
11: 54,217,983 (GRCm39) |
T207K |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,988,858 (GRCm39) |
K3381* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,031 (GRCm39) |
V74A |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,012 (GRCm39) |
W270R |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,742,573 (GRCm39) |
T118A |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,831,452 (GRCm39) |
Q497K |
possibly damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,249 (GRCm39) |
M183L |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,367,707 (GRCm39) |
I1026V |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,509 (GRCm39) |
T768A |
probably damaging |
Het |
| Cog5 |
T |
C |
12: 31,887,288 (GRCm39) |
F470L |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,381,306 (GRCm39) |
D374G |
probably damaging |
Het |
| Disp2 |
A |
C |
2: 118,622,166 (GRCm39) |
E966A |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,573,344 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
C |
A |
15: 78,556,646 (GRCm39) |
V634L |
probably benign |
Het |
| Fasl |
T |
G |
1: 161,614,707 (GRCm39) |
S119R |
probably benign |
Het |
| Foxp2 |
C |
G |
6: 15,437,901 (GRCm39) |
P701A |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,563,790 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
T |
C |
14: 8,222,683 (GRCm38) |
V175A |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,352,991 (GRCm39) |
N178S |
probably benign |
Het |
| Lhx6 |
C |
A |
2: 35,993,371 (GRCm39) |
R80L |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,499,216 (GRCm39) |
L406P |
probably damaging |
Het |
| Mapkap1 |
T |
C |
2: 34,487,494 (GRCm39) |
F231L |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,504,535 (GRCm39) |
Y256H |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,296,911 (GRCm39) |
T1203A |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,467,376 (GRCm39) |
Y604C |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,479,781 (GRCm39) |
Q66K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,040,263 (GRCm39) |
H933Q |
probably damaging |
Het |
| Or10h5 |
T |
A |
17: 33,434,542 (GRCm39) |
I262F |
probably damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,252 (GRCm39) |
V216A |
probably benign |
Het |
| Or2d3c |
A |
G |
7: 106,525,797 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,797 (GRCm39) |
E308K |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,449,091 (GRCm39) |
T680A |
probably damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,113,852 (GRCm39) |
I104F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnase6 |
A |
C |
14: 51,367,974 (GRCm39) |
D122A |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
A |
19: 44,531,792 (GRCm39) |
T39I |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,015,601 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,398,817 (GRCm39) |
Y261* |
probably null |
Het |
| Supt6 |
G |
A |
11: 78,098,993 (GRCm39) |
P1626L |
possibly damaging |
Het |
| Tbx15 |
A |
G |
3: 99,233,771 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,329,792 (GRCm39) |
V240A |
probably benign |
Het |
| Trhr |
C |
T |
15: 44,092,638 (GRCm39) |
L292F |
probably damaging |
Het |
| Trps1 |
G |
A |
15: 50,695,126 (GRCm39) |
L340F |
possibly damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,284,429 (GRCm38) |
|
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,032,151 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
G |
A |
10: 127,578,844 (GRCm39) |
E473K |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,387 (GRCm39) |
S269T |
possibly damaging |
Het |
| Zfp580 |
C |
A |
7: 5,056,063 (GRCm39) |
P141Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATGAATTTCTGCATTTGTCGA -3'
(R):5'- TAAGTGGGAAACAATGAACTTGATAT -3'
Sequencing Primer
(F):5'- CGATTATCTCTTTCATCCTGTAGAAG -3'
(R):5'- GTTAAGGACACTGACTGCTGATCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation