Incidental Mutation 'IGL02824:Eif3l'
| ID |
361143 |
| 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 # |
IGL02824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 78960023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
[ENSMUST00000229310]
|
| AlphaFold |
Q8QZY1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040518
|
| SMART Domains |
Protein: ENSMUSP00000038839
Gene: ENSMUSG00000033047
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
Pfam:Paf67
|
152 |
550 |
7e-179 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229338
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
T |
C |
4: 122,596,112 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,969,056 (GRCm39) |
K93N |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,420 (GRCm39) |
F832L |
probably benign |
Het |
| Abl1 |
A |
T |
2: 31,690,831 (GRCm39) |
K783N |
probably damaging |
Het |
| Agxt2 |
A |
G |
15: 10,393,891 (GRCm39) |
E423G |
probably null |
Het |
| Alkbh8 |
T |
C |
9: 3,368,021 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
C |
11: 5,524,246 (GRCm39) |
I171T |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,826 (GRCm39) |
D446G |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,687,659 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,326 (GRCm39) |
D659G |
probably benign |
Het |
| F5 |
T |
C |
1: 164,021,916 (GRCm39) |
S1464P |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,037 (GRCm39) |
N259S |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,761,405 (GRCm39) |
I209N |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,254,339 (GRCm39) |
E671G |
probably null |
Het |
| Heatr5b |
T |
C |
17: 79,081,109 (GRCm39) |
D1381G |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,309,438 (GRCm39) |
I186K |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,072 (GRCm39) |
D236G |
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,682,237 (GRCm39) |
R149* |
probably null |
Het |
| Lrrn1 |
T |
C |
6: 107,545,495 (GRCm39) |
F431S |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,979,195 (GRCm39) |
V282I |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,996,585 (GRCm39) |
K164R |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,508 (GRCm39) |
T165A |
probably damaging |
Het |
| Midn |
T |
G |
10: 79,989,486 (GRCm39) |
I43S |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,582 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,565 (GRCm39) |
E194G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,337 (GRCm39) |
D155G |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,602,345 (GRCm39) |
V278A |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,435,954 (GRCm39) |
F203L |
probably benign |
Het |
| Scd4 |
T |
C |
19: 44,329,698 (GRCm39) |
L223P |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,215 (GRCm39) |
|
probably benign |
Het |
| Smtn |
A |
G |
11: 3,482,658 (GRCm39) |
Y105H |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,025 (GRCm39) |
I54M |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,777,319 (GRCm39) |
|
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,230,540 (GRCm39) |
F164L |
possibly damaging |
Het |
| Zfp503 |
C |
T |
14: 22,035,162 (GRCm39) |
G585S |
possibly damaging |
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 |
|
IGL02689:Eif3l
|
APN |
15 |
78,970,719 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02797:Eif3l
|
APN |
15 |
78,959,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-12-18 |
Incidental Mutation