Incidental Mutation 'IGL02333:Eif3e'
| ID |
288783 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif3e
|
| Ensembl Gene |
ENSMUSG00000022336 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit E |
| Synonyms |
Eif3s6, Int6, eIF3-p48, eIF3-p46, 48kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL02333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
43113454-43146115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43129533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 198
(N198K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022960]
|
| AlphaFold |
P60229 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022960
AA Change: N198K
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: N198K
| Domain | Start | End | E-Value | Type |
|---|
|
eIF3_N
|
5 |
138 |
4.88e-70 |
SMART |
|
Blast:eIF3_N
|
157 |
193 |
2e-14 |
BLAST |
|
Blast:PINT
|
218 |
251 |
7e-9 |
BLAST |
|
Blast:PINT
|
284 |
315 |
3e-13 |
BLAST |
|
PINT
|
327 |
411 |
8.17e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228892
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
G |
A |
11: 105,862,273 (GRCm39) |
V276I |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,397,804 (GRCm39) |
W289R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,482,551 (GRCm39) |
S19P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,527,544 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
G |
A |
13: 45,720,680 (GRCm39) |
S405F |
probably damaging |
Het |
| Atxn2 |
A |
G |
5: 121,919,450 (GRCm39) |
Y386C |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,575,334 (GRCm39) |
L643* |
probably null |
Het |
| Ccl22 |
T |
A |
8: 95,476,507 (GRCm39) |
L91Q |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,743,855 (GRCm39) |
Y81H |
probably benign |
Het |
| Col5a3 |
C |
A |
9: 20,710,602 (GRCm39) |
R549M |
unknown |
Het |
| Emp2 |
A |
G |
16: 10,102,375 (GRCm39) |
Y146H |
probably damaging |
Het |
| Impg1 |
G |
A |
9: 80,322,808 (GRCm39) |
L66F |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,564 (GRCm39) |
|
probably benign |
Het |
| Khdrbs3 |
T |
C |
15: 68,921,243 (GRCm39) |
Y187H |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,467 (GRCm39) |
H160L |
probably benign |
Het |
| Klhl2 |
G |
A |
8: 65,212,784 (GRCm39) |
R252W |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,021 (GRCm39) |
T595I |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,811,637 (GRCm39) |
D1887Y |
possibly damaging |
Het |
| Olfm4 |
C |
T |
14: 80,259,210 (GRCm39) |
T453I |
probably damaging |
Het |
| Sin3a |
A |
G |
9: 57,014,843 (GRCm39) |
N688S |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,260,950 (GRCm39) |
V150A |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,724 (GRCm39) |
L2234P |
probably damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,539 (GRCm39) |
V166M |
possibly damaging |
Het |
| Usp54 |
A |
T |
14: 20,639,463 (GRCm39) |
F156L |
probably damaging |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,143 (GRCm39) |
F795Y |
probably damaging |
Het |
|
| Other mutations in Eif3e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00765:Eif3e
|
APN |
15 |
43,141,745 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02669:Eif3e
|
APN |
15 |
43,146,088 (GRCm39) |
start codon destroyed |
probably benign |
|
|
IGL03119:Eif3e
|
APN |
15 |
43,129,000 (GRCm39) |
missense |
probably benign |
|
|
IGL03200:Eif3e
|
APN |
15 |
43,115,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Verdugo
|
UTSW |
15 |
43,135,685 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0152:Eif3e
|
UTSW |
15 |
43,115,632 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1439:Eif3e
|
UTSW |
15 |
43,141,824 (GRCm39) |
splice site |
probably benign |
|
|
R1613:Eif3e
|
UTSW |
15 |
43,113,620 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1997:Eif3e
|
UTSW |
15 |
43,129,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Eif3e
|
UTSW |
15 |
43,114,943 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3761:Eif3e
|
UTSW |
15 |
43,124,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4241:Eif3e
|
UTSW |
15 |
43,126,086 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4571:Eif3e
|
UTSW |
15 |
43,129,558 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5061:Eif3e
|
UTSW |
15 |
43,115,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Eif3e
|
UTSW |
15 |
43,114,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5367:Eif3e
|
UTSW |
15 |
43,115,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Eif3e
|
UTSW |
15 |
43,128,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5497:Eif3e
|
UTSW |
15 |
43,134,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5928:Eif3e
|
UTSW |
15 |
43,138,728 (GRCm39) |
splice site |
probably null |
|
|
R6083:Eif3e
|
UTSW |
15 |
43,129,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Eif3e
|
UTSW |
15 |
43,115,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6964:Eif3e
|
UTSW |
15 |
43,135,685 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7692:Eif3e
|
UTSW |
15 |
43,126,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7825:Eif3e
|
UTSW |
15 |
43,129,667 (GRCm39) |
splice site |
probably null |
|
|
R8034:Eif3e
|
UTSW |
15 |
43,135,703 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9463:Eif3e
|
UTSW |
15 |
43,138,709 (GRCm39) |
missense |
probably benign |
|
|
R9583:Eif3e
|
UTSW |
15 |
43,128,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation