Incidental Mutation 'R6575:Eif3l'
ID |
523416 |
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 |
044699-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R6575 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 78970778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 351
(Q351K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
|
AlphaFold |
Q8QZY1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040518
AA Change: Q351K
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000038839 Gene: ENSMUSG00000033047 AA Change: Q351K
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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,256,284 (GRCm39) |
L225P |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
Fcrla |
A |
G |
1: 170,749,797 (GRCm39) |
S87P |
probably damaging |
Het |
Glra1 |
A |
G |
11: 55,411,822 (GRCm39) |
Y246H |
probably damaging |
Het |
Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
Hemgn |
C |
A |
4: 46,395,990 (GRCm39) |
M415I |
possibly damaging |
Het |
Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
Trhr |
A |
G |
15: 44,092,602 (GRCm39) |
M280V |
possibly damaging |
Het |
Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
Vav1 |
A |
C |
17: 57,612,280 (GRCm39) |
R513S |
probably damaging |
Het |
Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
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 |
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 |
|
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'- GGACTCATGGCTACTGCTTTC -3'
(R):5'- AACTGGCAGCATAGTTTGAAAG -3'
Sequencing Primer
(F):5'- CACCTTCCTTTGCAGAGCATG -3'
(R):5'- GAACTCACTCTGTAGACCAGGTTAG -3'
|
Posted On |
2018-06-22 |