Incidental Mutation 'IGL02658:Eif3l'
ID |
302432 |
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: 0.966)
|
Stock # |
IGL02658
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78959423-78978600 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78961142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040518]
[ENSMUST00000229310]
|
AlphaFold |
Q8QZY1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040518
AA Change: D65G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038839 Gene: ENSMUSG00000033047 AA Change: D65G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
Pfam:Paf67
|
152 |
550 |
7e-179 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229310
AA Change: D41G
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229338
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,843,386 (GRCm39) |
Y946F |
probably benign |
Het |
Abcb4 |
T |
G |
5: 8,984,240 (GRCm39) |
W657G |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,088,279 (GRCm39) |
|
probably benign |
Het |
Arap3 |
A |
G |
18: 38,124,047 (GRCm39) |
V351A |
probably benign |
Het |
Bpifb9b |
A |
C |
2: 154,153,201 (GRCm39) |
Y89S |
probably benign |
Het |
Carns1 |
C |
T |
19: 4,223,083 (GRCm39) |
C47Y |
probably benign |
Het |
Chd5 |
C |
T |
4: 152,445,050 (GRCm39) |
H344Y |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 76,957,807 (GRCm39) |
T481A |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,073,072 (GRCm39) |
D264V |
probably damaging |
Het |
Dph1 |
C |
A |
11: 75,071,461 (GRCm39) |
L311F |
probably benign |
Het |
Gtf2a1l |
T |
A |
17: 88,976,146 (GRCm39) |
F3Y |
probably benign |
Het |
Hcn4 |
A |
T |
9: 58,766,748 (GRCm39) |
T770S |
unknown |
Het |
Hydin |
A |
T |
8: 111,139,908 (GRCm39) |
I726F |
possibly damaging |
Het |
Klf2 |
A |
G |
8: 73,072,940 (GRCm39) |
I7V |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,212,662 (GRCm39) |
L633H |
probably damaging |
Het |
Ncoa3 |
A |
G |
2: 165,893,313 (GRCm39) |
D206G |
probably benign |
Het |
Nlrp4a |
T |
G |
7: 26,149,138 (GRCm39) |
D248E |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,746 (GRCm39) |
I429T |
probably damaging |
Het |
Or1j10 |
T |
A |
2: 36,267,072 (GRCm39) |
C95S |
probably damaging |
Het |
Or2p2 |
G |
A |
13: 21,256,982 (GRCm39) |
T163I |
probably damaging |
Het |
Or2t6 |
T |
A |
14: 14,175,732 (GRCm38) |
M117L |
possibly damaging |
Het |
Or51g1 |
A |
G |
7: 102,633,537 (GRCm39) |
M278T |
probably benign |
Het |
Or8s16 |
A |
G |
15: 98,211,237 (GRCm39) |
S65P |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,296,254 (GRCm39) |
E1322G |
probably damaging |
Het |
Plcxd2 |
A |
T |
16: 45,792,689 (GRCm39) |
F217I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,162,346 (GRCm39) |
I1389N |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,174,091 (GRCm39) |
Y239C |
probably benign |
Het |
Psma6 |
A |
G |
12: 55,458,996 (GRCm39) |
E126G |
probably benign |
Het |
R3hcc1l |
T |
A |
19: 42,551,141 (GRCm39) |
V46E |
probably damaging |
Het |
Rap1gds1 |
G |
T |
3: 138,663,240 (GRCm39) |
H320N |
probably damaging |
Het |
Sdhaf3 |
A |
G |
6: 7,038,992 (GRCm39) |
M105V |
probably damaging |
Het |
Slc22a26 |
T |
A |
19: 7,765,613 (GRCm39) |
N345I |
probably benign |
Het |
Sncaip |
T |
C |
18: 53,028,027 (GRCm39) |
I412T |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,178,530 (GRCm39) |
I864N |
probably damaging |
Het |
Spag5 |
C |
T |
11: 78,212,157 (GRCm39) |
Q1062* |
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Szrd1 |
A |
G |
4: 140,867,057 (GRCm39) |
|
probably benign |
Het |
Tns2 |
C |
A |
15: 102,016,231 (GRCm39) |
|
probably benign |
Het |
Trcg1 |
C |
A |
9: 57,149,511 (GRCm39) |
S361* |
probably null |
Het |
Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,280,090 (GRCm39) |
V124A |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,964,023 (GRCm39) |
I633T |
probably damaging |
Het |
Zfp691 |
A |
G |
4: 119,027,704 (GRCm39) |
F176S |
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 |
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 |
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 |