Incidental Mutation 'R2442:Eif3l'
ID |
249837 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif3l
|
Ensembl Gene |
ENSMUSG00000033047 |
Gene Name |
eukaryotic translation initiation factor 3, subunit L |
Synonyms |
Eif3s6ip, HSP-66Y, 0610011H21Rik, Eif3eip, PAF67, D15N1e |
MMRRC Submission |
040400-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R2442 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78969807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 268
(M268V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
|
AlphaFold |
Q8QZY1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040518
AA Change: M268V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038839 Gene: ENSMUSG00000033047 AA Change: M268V
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,547,606 (GRCm39) |
V256A |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,780,317 (GRCm39) |
N42S |
possibly damaging |
Het |
Apoo-ps |
C |
A |
13: 107,551,140 (GRCm39) |
|
noncoding transcript |
Het |
Bri3 |
C |
T |
5: 144,181,411 (GRCm39) |
T39I |
probably benign |
Het |
Bsn |
A |
G |
9: 107,984,119 (GRCm39) |
S3312P |
unknown |
Het |
Camkmt |
C |
A |
17: 85,398,203 (GRCm39) |
A17E |
possibly damaging |
Het |
Cc2d2a |
G |
T |
5: 43,828,647 (GRCm39) |
|
probably null |
Het |
Ccdc122 |
G |
T |
14: 77,329,398 (GRCm39) |
M150I |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,886,516 (GRCm39) |
F57L |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,957,759 (GRCm39) |
F564Y |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,849,840 (GRCm39) |
D38G |
probably damaging |
Het |
Cts7 |
C |
A |
13: 61,503,431 (GRCm39) |
G178* |
probably null |
Het |
Dcc |
A |
T |
18: 71,589,954 (GRCm39) |
Y681N |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,083,508 (GRCm39) |
E521G |
possibly damaging |
Het |
Dnase2a |
T |
C |
8: 85,635,622 (GRCm39) |
V35A |
probably damaging |
Het |
Foxc1 |
A |
G |
13: 31,992,781 (GRCm39) |
M531V |
unknown |
Het |
Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
Ifit1bl1 |
G |
A |
19: 34,572,289 (GRCm39) |
A56V |
probably benign |
Het |
Iqsec1 |
T |
C |
6: 90,666,865 (GRCm39) |
E524G |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,304,091 (GRCm39) |
I154V |
possibly damaging |
Het |
Kdm1b |
T |
A |
13: 47,216,451 (GRCm39) |
Y274N |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,948,922 (GRCm39) |
L1889Q |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,075,312 (GRCm39) |
T1010A |
probably benign |
Het |
Mmp11 |
T |
C |
10: 75,763,079 (GRCm39) |
N171S |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,417,730 (GRCm39) |
E1409G |
probably damaging |
Het |
N4bp1 |
A |
G |
8: 87,588,668 (GRCm39) |
I90T |
probably damaging |
Het |
Or4c52 |
T |
C |
2: 89,845,685 (GRCm39) |
V137A |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,792,302 (GRCm39) |
S342P |
probably damaging |
Het |
Plg |
A |
G |
17: 12,629,847 (GRCm39) |
E627G |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,284,469 (GRCm39) |
I289T |
probably damaging |
Het |
Srpra |
G |
A |
9: 35,123,297 (GRCm39) |
G43S |
possibly damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,892,705 (GRCm39) |
M1T |
probably null |
Het |
Tcte2 |
A |
T |
17: 13,934,339 (GRCm39) |
I90N |
possibly damaging |
Het |
Trim30c |
G |
A |
7: 104,031,481 (GRCm39) |
P445S |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,754,776 (GRCm39) |
Q1984R |
probably damaging |
Het |
Ubn2 |
T |
C |
6: 38,467,940 (GRCm39) |
S885P |
probably benign |
Het |
Unc45a |
A |
G |
7: 79,989,417 (GRCm39) |
F17S |
probably damaging |
Het |
Uts2b |
C |
T |
16: 27,179,782 (GRCm39) |
V75I |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 19,993,793 (GRCm39) |
K57E |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTTGAGACTCCTGGGTAG -3'
(R):5'- ATCCTGTGCAGACTCCTCAAG -3'
Sequencing Primer
(F):5'- CTCCTGGGTAGGGGTAAAGTG -3'
(R):5'- AAGCTCGACCCTGTCTGC -3'
|
Posted On |
2014-11-12 |