Incidental Mutation 'R4241:Eif3e'
| ID |
320229 |
| 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 |
| MMRRC Submission |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
43113454-43146115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43126086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 287
(T287I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022960]
|
| AlphaFold |
P60229 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022960
AA Change: T287I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: T287I
| 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
|
| Meta Mutation Damage Score |
0.3051 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
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 |
|
|
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 |
|
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'- CCTAAAGGAGACAATACCAACTAGGTG -3'
(R):5'- GCCCCTGAAGTTTGGCTTATG -3'
Sequencing Primer
(F):5'- CCAACTAGGTGTCTTCATTCTGTC -3'
(R):5'- GCCCAAGAAATCAGATGTAATCTAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation