Incidental Mutation 'IGL02689:Eif3l'
ID |
303661 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3l
|
Ensembl Gene |
ENSMUSG00000033047 |
Gene Name |
eukaryotic translation initiation factor 3, subunit L |
Synonyms |
Eif3s6ip, HSP-66Y, 0610011H21Rik, Eif3eip, PAF67, D15N1e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL02689
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78970719 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 331
(D331V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
|
AlphaFold |
Q8QZY1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040518
AA Change: D331V
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000038839 Gene: ENSMUSG00000033047 AA Change: D331V
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
Pfam:Paf67
|
152 |
550 |
7e-179 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230032
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer2 |
G |
T |
4: 86,835,692 (GRCm39) |
A235S |
probably benign |
Het |
Add2 |
A |
G |
6: 86,084,388 (GRCm39) |
I479V |
possibly damaging |
Het |
Anapc11 |
T |
A |
11: 120,490,168 (GRCm39) |
M28K |
probably benign |
Het |
Anapc15-ps |
T |
C |
10: 95,508,993 (GRCm39) |
S87G |
probably benign |
Het |
Atraid |
T |
C |
5: 31,209,826 (GRCm39) |
L46P |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,916,772 (GRCm39) |
Y509* |
probably null |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cecr2 |
T |
A |
6: 120,739,128 (GRCm39) |
L1257Q |
probably damaging |
Het |
Csn1s2b |
A |
G |
5: 87,957,780 (GRCm39) |
I5V |
probably benign |
Het |
Dhps |
T |
C |
8: 85,800,379 (GRCm39) |
Y221H |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,997,962 (GRCm39) |
S717P |
probably damaging |
Het |
Dppa5a |
G |
T |
9: 78,275,113 (GRCm39) |
S63Y |
probably damaging |
Het |
Folh1 |
G |
T |
7: 86,412,253 (GRCm39) |
|
probably null |
Het |
Gbp9 |
G |
T |
5: 105,253,662 (GRCm39) |
Q18K |
probably benign |
Het |
Grm5 |
A |
G |
7: 87,251,918 (GRCm39) |
K56R |
probably damaging |
Het |
H2-M3 |
T |
A |
17: 37,581,432 (GRCm39) |
Y31* |
probably null |
Het |
Herc2 |
T |
C |
7: 55,815,031 (GRCm39) |
|
probably benign |
Het |
Itga7 |
G |
T |
10: 128,782,687 (GRCm39) |
A675S |
possibly damaging |
Het |
Lipo5 |
G |
A |
19: 33,445,186 (GRCm39) |
H128Y |
unknown |
Het |
Or2bd2 |
T |
C |
7: 6,443,574 (GRCm39) |
L225P |
possibly damaging |
Het |
Or5b121 |
A |
G |
19: 13,507,171 (GRCm39) |
I89V |
probably benign |
Het |
Pdk4 |
C |
T |
6: 5,487,408 (GRCm39) |
V281I |
probably benign |
Het |
Pkn3 |
G |
A |
2: 29,970,858 (GRCm39) |
G202D |
probably damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,462,149 (GRCm39) |
N260S |
probably damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,487,594 (GRCm39) |
F1623L |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,907,934 (GRCm39) |
F203S |
probably damaging |
Het |
St6gal2 |
T |
C |
17: 55,789,596 (GRCm39) |
L210S |
probably damaging |
Het |
Taf5 |
T |
C |
19: 47,065,704 (GRCm39) |
|
probably benign |
Het |
Taok2 |
A |
G |
7: 126,475,270 (GRCm39) |
F226S |
probably damaging |
Het |
Timm10b |
A |
G |
7: 105,289,839 (GRCm39) |
|
probably benign |
Het |
Tmx3 |
A |
G |
18: 90,555,240 (GRCm39) |
N319S |
possibly damaging |
Het |
Trmt1 |
G |
T |
8: 85,426,385 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Eif3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Eif3l
|
APN |
15 |
78,961,120 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02457:Eif3l
|
APN |
15 |
78,962,296 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02658:Eif3l
|
APN |
15 |
78,961,142 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02797:Eif3l
|
APN |
15 |
78,959,477 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02824:Eif3l
|
APN |
15 |
78,960,023 (GRCm39) |
splice site |
probably null |
|
IGL02957:Eif3l
|
APN |
15 |
78,974,028 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03352:Eif3l
|
APN |
15 |
78,961,251 (GRCm39) |
unclassified |
probably benign |
|
R0528:Eif3l
|
UTSW |
15 |
78,973,809 (GRCm39) |
missense |
probably benign |
0.00 |
R0550:Eif3l
|
UTSW |
15 |
78,961,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0751:Eif3l
|
UTSW |
15 |
78,959,966 (GRCm39) |
splice site |
probably null |
|
R1101:Eif3l
|
UTSW |
15 |
78,959,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R1184:Eif3l
|
UTSW |
15 |
78,959,966 (GRCm39) |
splice site |
probably null |
|
R1585:Eif3l
|
UTSW |
15 |
78,968,381 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1895:Eif3l
|
UTSW |
15 |
78,973,677 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2442:Eif3l
|
UTSW |
15 |
78,969,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Eif3l
|
UTSW |
15 |
78,965,849 (GRCm39) |
nonsense |
probably null |
|
R5092:Eif3l
|
UTSW |
15 |
78,968,354 (GRCm39) |
missense |
probably benign |
0.01 |
R5239:Eif3l
|
UTSW |
15 |
78,973,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5328:Eif3l
|
UTSW |
15 |
78,977,561 (GRCm39) |
nonsense |
probably null |
|
R6575:Eif3l
|
UTSW |
15 |
78,970,778 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6624:Eif3l
|
UTSW |
15 |
78,974,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Eif3l
|
UTSW |
15 |
78,969,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R7484:Eif3l
|
UTSW |
15 |
78,968,336 (GRCm39) |
missense |
probably benign |
0.00 |
R7838:Eif3l
|
UTSW |
15 |
78,973,799 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7841:Eif3l
|
UTSW |
15 |
78,973,779 (GRCm39) |
missense |
probably benign |
0.05 |
R8085:Eif3l
|
UTSW |
15 |
78,961,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R8296:Eif3l
|
UTSW |
15 |
78,963,220 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8440:Eif3l
|
UTSW |
15 |
78,961,120 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8932:Eif3l
|
UTSW |
15 |
78,960,006 (GRCm39) |
nonsense |
probably null |
|
R9011:Eif3l
|
UTSW |
15 |
78,973,725 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9029:Eif3l
|
UTSW |
15 |
78,968,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Eif3l
|
UTSW |
15 |
78,978,423 (GRCm39) |
missense |
probably benign |
0.11 |
R9473:Eif3l
|
UTSW |
15 |
78,970,704 (GRCm39) |
missense |
probably damaging |
0.97 |
R9614:Eif3l
|
UTSW |
15 |
78,978,423 (GRCm39) |
missense |
probably benign |
0.11 |
|
Posted On |
2015-04-16 |