Incidental Mutation 'R5789:Eif2b3'
| ID |
448197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2b3
|
| Ensembl Gene |
ENSMUSG00000028683 |
| Gene Name |
eukaryotic translation initiation factor 2B, subunit 3 |
| Synonyms |
1190002P15Rik |
| MMRRC Submission |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5789 (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 116885692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 78
(I78N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070610]
[ENSMUST00000106447]
[ENSMUST00000106448]
|
| AlphaFold |
B1AUN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070610
AA Change: I78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070334
Gene: ENSMUSG00000028683
AA Change: I78N
| 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: I78N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102055
Gene: ENSMUSG00000028683
AA Change: I78N
| 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: I78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102056
Gene: ENSMUSG00000028683
AA Change: I78N
| 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 |
0.7868 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
probably benign |
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 |
|
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'- AGGCTCAGTCATATTAGCATTTATCAT -3'
(R):5'- AAGTGGGAAACAATGAACTTGATATA -3'
Sequencing Primer
(F):5'- GATTCTATACGCTGGCTTTGAAC -3'
(R):5'- TGGCAAATTCTAGGCTAGCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation