Incidental Mutation 'R6624:Eif3l'
ID |
524690 |
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 |
044746-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R6624 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78974129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 515
(S515P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
|
AlphaFold |
Q8QZY1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040518
AA Change: S515P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038839 Gene: ENSMUSG00000033047 AA Change: S515P
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: ENSMUST00000175233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230032
|
Meta Mutation Damage Score |
0.6811 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
Ergic3 |
T |
A |
2: 155,858,818 (GRCm39) |
M286K |
probably damaging |
Het |
Ern2 |
C |
T |
7: 121,777,006 (GRCm39) |
A305T |
probably benign |
Het |
Fam187b |
A |
G |
7: 30,676,612 (GRCm39) |
I40M |
probably benign |
Het |
Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
Iah1 |
C |
T |
12: 21,369,785 (GRCm39) |
Q100* |
probably null |
Het |
Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
Lrriq4 |
A |
T |
3: 30,704,929 (GRCm39) |
H319L |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
Pou4f3 |
A |
T |
18: 42,528,707 (GRCm39) |
I217F |
probably damaging |
Het |
Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
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 |
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 |
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'- CAGCAGCTGAAGGTGTTTTCC -3'
(R):5'- TCCCACTTCTGCATGCACAG -3'
Sequencing Primer
(F):5'- TTCCGATGAGGTGCAGCAG -3'
(R):5'- GCACAGCATTTTATCCCCCAC -3'
|
Posted On |
2018-06-22 |