Incidental Mutation 'IGL03119:Eif3e'
| ID |
409901 |
| 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, eIF3-p46, 48kDa, Int6, eIF3-p48 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL03119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
43250058-43282719 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 43265604 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 207
(S207A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022960]
|
| AlphaFold |
P60229 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022960
AA Change: S207A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: S207A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,714,887 (GRCm38) |
T626A |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,109,051 (GRCm38) |
T319I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,382,373 (GRCm38) |
S5861P |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,433,700 (GRCm38) |
C4742G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,243,227 (GRCm38) |
D93E |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,095,669 (GRCm38) |
T121A |
probably benign |
Het |
| Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
| Cep104 |
A |
C |
4: 153,981,724 (GRCm38) |
K126N |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,339,976 (GRCm38) |
E708G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,161,062 (GRCm38) |
Y107C |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 29,985,365 (GRCm38) |
S102P |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,713,387 (GRCm38) |
Y313C |
probably damaging |
Het |
| Fyttd1 |
T |
C |
16: 32,900,695 (GRCm38) |
V121A |
probably benign |
Het |
| Gstk1 |
T |
C |
6: 42,249,899 (GRCm38) |
S200P |
probably damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,212,334 (GRCm38) |
F244L |
probably null |
Het |
| Ints7 |
T |
C |
1: 191,610,365 (GRCm38) |
V491A |
probably damaging |
Het |
| Kcnd2 |
G |
T |
6: 21,216,509 (GRCm38) |
E71* |
probably null |
Het |
| Ltbp3 |
A |
T |
19: 5,757,443 (GRCm38) |
Q1123L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,174,015 (GRCm38) |
T961A |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,434,978 (GRCm38) |
V720E |
probably null |
Het |
| Olfr1480 |
T |
C |
19: 13,530,435 (GRCm38) |
I298T |
probably benign |
Het |
| Olfr599 |
A |
G |
7: 103,338,722 (GRCm38) |
I223V |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,475,014 (GRCm38) |
T433N |
probably damaging |
Het |
| Peli1 |
T |
C |
11: 21,140,560 (GRCm38) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,859,624 (GRCm38) |
V209A |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,452,003 (GRCm38) |
Y31C |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 118,195,113 (GRCm38) |
|
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,283,517 (GRCm38) |
M457V |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,838,017 (GRCm38) |
E1156* |
probably null |
Het |
| Usp53 |
T |
A |
3: 122,961,415 (GRCm38) |
R130S |
possibly damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,606,541 (GRCm38) |
S193P |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 147,042,872 (GRCm38) |
I626V |
probably damaging |
Het |
| Zfp574 |
G |
A |
7: 25,080,473 (GRCm38) |
A307T |
probably benign |
Het |
|
| Other mutations in Eif3e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00765:Eif3e
|
APN |
15 |
43,278,349 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02333:Eif3e
|
APN |
15 |
43,266,137 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL02669:Eif3e
|
APN |
15 |
43,282,692 (GRCm38) |
start codon destroyed |
probably benign |
|
|
IGL03200:Eif3e
|
APN |
15 |
43,252,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Verdugo
|
UTSW |
15 |
43,272,289 (GRCm38) |
missense |
probably benign |
0.29 |
|
R0152:Eif3e
|
UTSW |
15 |
43,252,236 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1439:Eif3e
|
UTSW |
15 |
43,278,428 (GRCm38) |
splice site |
probably benign |
|
|
R1613:Eif3e
|
UTSW |
15 |
43,250,224 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1997:Eif3e
|
UTSW |
15 |
43,265,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2221:Eif3e
|
UTSW |
15 |
43,251,547 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3761:Eif3e
|
UTSW |
15 |
43,261,084 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4241:Eif3e
|
UTSW |
15 |
43,262,690 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4571:Eif3e
|
UTSW |
15 |
43,266,162 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5061:Eif3e
|
UTSW |
15 |
43,252,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5227:Eif3e
|
UTSW |
15 |
43,251,521 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5367:Eif3e
|
UTSW |
15 |
43,252,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5417:Eif3e
|
UTSW |
15 |
43,265,521 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5497:Eif3e
|
UTSW |
15 |
43,270,970 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5928:Eif3e
|
UTSW |
15 |
43,275,332 (GRCm38) |
splice site |
probably null |
|
|
R6083:Eif3e
|
UTSW |
15 |
43,266,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6337:Eif3e
|
UTSW |
15 |
43,252,296 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6964:Eif3e
|
UTSW |
15 |
43,272,289 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7692:Eif3e
|
UTSW |
15 |
43,263,246 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7825:Eif3e
|
UTSW |
15 |
43,266,271 (GRCm38) |
splice site |
probably null |
|
|
R8034:Eif3e
|
UTSW |
15 |
43,272,307 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9463:Eif3e
|
UTSW |
15 |
43,275,313 (GRCm38) |
missense |
probably benign |
|
|
R9583:Eif3e
|
UTSW |
15 |
43,265,561 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation