Incidental Mutation 'IGL03200:Eif3e'
| ID |
412945 |
| 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 # |
IGL03200
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
43113454-43146115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43115657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 370
(W370R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022960]
|
| AlphaFold |
P60229 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022960
AA Change: W370R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: W370R
| 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: ENSMUST00000228892
|
| Meta Mutation Damage Score |
0.9745 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,928,989 (GRCm39) |
|
probably benign |
Het |
| Degs1 |
A |
T |
1: 182,107,256 (GRCm39) |
M1K |
probably null |
Het |
| H2-M10.6 |
G |
A |
17: 37,124,908 (GRCm39) |
G275E |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,196,010 (GRCm39) |
V647I |
probably benign |
Het |
| Kcnip2 |
T |
G |
19: 45,782,502 (GRCm39) |
K190Q |
probably damaging |
Het |
| Mbd1 |
T |
G |
18: 74,409,502 (GRCm39) |
S251A |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,264,390 (GRCm39) |
H235L |
probably benign |
Het |
| Ndst1 |
A |
T |
18: 60,832,611 (GRCm39) |
I573N |
possibly damaging |
Het |
| Ntan1 |
C |
T |
16: 13,652,591 (GRCm39) |
P229L |
probably damaging |
Het |
| Rbl2 |
T |
C |
8: 91,823,395 (GRCm39) |
I441T |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,208,711 (GRCm39) |
V413D |
possibly damaging |
Het |
| Sulf1 |
C |
T |
1: 12,856,841 (GRCm39) |
R31* |
probably null |
Het |
| Taok1 |
G |
A |
11: 77,466,478 (GRCm39) |
Q124* |
probably null |
Het |
| Tmem140 |
A |
G |
6: 34,849,814 (GRCm39) |
E110G |
possibly damaging |
Het |
| U2surp |
G |
A |
9: 95,373,444 (GRCm39) |
R242* |
probably null |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp456 |
C |
T |
13: 67,514,596 (GRCm39) |
R370H |
probably benign |
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 |
|
IGL02333:Eif3e
|
APN |
15 |
43,129,533 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02669:Eif3e
|
APN |
15 |
43,146,088 (GRCm39) |
start codon destroyed |
probably benign |
|
|
IGL03119:Eif3e
|
APN |
15 |
43,129,000 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation