Incidental Mutation 'R3761:Eif3e'
| ID |
270543 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
43113454-43146115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43124480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 346
(R346H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022960]
|
| AlphaFold |
P60229 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022960
AA Change: R346H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: R346H
| 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: ENSMUST00000228892
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
G |
9: 110,727,202 (GRCm39) |
T923A |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,464,200 (GRCm39) |
D216V |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,434,835 (GRCm39) |
V360A |
possibly damaging |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,860,254 (GRCm39) |
D301G |
probably damaging |
Het |
| Fam174a |
G |
T |
1: 95,241,971 (GRCm39) |
V144F |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,287,169 (GRCm39) |
W135R |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,137,071 (GRCm39) |
S150P |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,300,093 (GRCm39) |
L400S |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,662 (GRCm39) |
I226N |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,585,258 (GRCm39) |
F2776S |
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,621,004 (GRCm39) |
Y537H |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,750 (GRCm39) |
V639A |
probably benign |
Het |
| Slc39a10 |
A |
G |
1: 46,851,285 (GRCm39) |
V735A |
possibly damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,800 (GRCm39) |
Y268N |
probably benign |
Het |
| Tmco5 |
A |
G |
2: 116,717,787 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,631,085 (GRCm39) |
H649Q |
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 |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCTTCAACTTGTCATTTCC -3'
(R):5'- CGTGAGCAACATTCTAAAGAGTAC -3'
Sequencing Primer
(F):5'- GCTTCAACTTGTCATTTCCAGAAAAC -3'
(R):5'- ATGCTGTGTATCTAGGTGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation