Incidental Mutation 'IGL00329:Gle1'
| ID |
7246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gle1
|
| Ensembl Gene |
ENSMUSG00000019715 |
| Gene Name |
GLE1 RNA export mediator |
| Synonyms |
4933405K21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
29825421-29849444 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 29829301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019859]
|
| AlphaFold |
Q8R322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019859
|
| SMART Domains |
Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
154 |
275 |
N/A |
INTRINSIC |
|
coiled coil region
|
306 |
356 |
N/A |
INTRINSIC |
|
Pfam:GLE1
|
397 |
650 |
2.4e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148983
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154490
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,123,911 (GRCm39) |
N72S |
probably benign |
Het |
| Aopep |
T |
A |
13: 63,338,977 (GRCm39) |
I623N |
probably damaging |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Arcn1 |
C |
A |
9: 44,670,333 (GRCm39) |
E98* |
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Col28a1 |
G |
T |
6: 8,175,425 (GRCm39) |
T141K |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,802,222 (GRCm39) |
F811S |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,269 (GRCm39) |
I186K |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,952,154 (GRCm39) |
D195G |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,855 (GRCm39) |
V276A |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,313,070 (GRCm39) |
E704G |
probably benign |
Het |
| Gm2178 |
C |
A |
14: 26,235,767 (GRCm39) |
|
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,774,047 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,759 (GRCm39) |
E290G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,595,725 (GRCm39) |
V157A |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,693,434 (GRCm39) |
Q160L |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,081 (GRCm39) |
K129E |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,379 (GRCm39) |
Y200C |
probably damaging |
Het |
| Mme |
G |
A |
3: 63,287,749 (GRCm39) |
W750* |
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,761 (GRCm39) |
P139L |
probably damaging |
Het |
| Nrtn |
C |
A |
17: 57,058,569 (GRCm39) |
R144L |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,299 (GRCm39) |
P58T |
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,198 (GRCm39) |
|
probably benign |
Het |
| Pdgfa |
T |
A |
5: 138,974,216 (GRCm39) |
|
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,666 (GRCm39) |
V233A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,078,474 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
T |
10: 78,039,711 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,216,288 (GRCm39) |
T380A |
probably benign |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,049 (GRCm39) |
S132T |
probably benign |
Het |
|
| Other mutations in Gle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01880:Gle1
|
APN |
2 |
29,833,762 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02293:Gle1
|
APN |
2 |
29,847,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02859:Gle1
|
APN |
2 |
29,839,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Gle1
|
APN |
2 |
29,833,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Gle1
|
UTSW |
2 |
29,847,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Gle1
|
UTSW |
2 |
29,830,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0839:Gle1
|
UTSW |
2 |
29,848,462 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0908:Gle1
|
UTSW |
2 |
29,826,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1102:Gle1
|
UTSW |
2 |
29,834,066 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1202:Gle1
|
UTSW |
2 |
29,839,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1302:Gle1
|
UTSW |
2 |
29,842,564 (GRCm39) |
splice site |
probably null |
|
|
R2184:Gle1
|
UTSW |
2 |
29,839,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Gle1
|
UTSW |
2 |
29,839,313 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4151:Gle1
|
UTSW |
2 |
29,834,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4172:Gle1
|
UTSW |
2 |
29,828,538 (GRCm39) |
missense |
probably benign |
|
|
R4732:Gle1
|
UTSW |
2 |
29,830,244 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4733:Gle1
|
UTSW |
2 |
29,830,244 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4775:Gle1
|
UTSW |
2 |
29,826,073 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4817:Gle1
|
UTSW |
2 |
29,826,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4824:Gle1
|
UTSW |
2 |
29,830,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4869:Gle1
|
UTSW |
2 |
29,826,032 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4909:Gle1
|
UTSW |
2 |
29,826,092 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5036:Gle1
|
UTSW |
2 |
29,826,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5298:Gle1
|
UTSW |
2 |
29,838,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5903:Gle1
|
UTSW |
2 |
29,830,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6345:Gle1
|
UTSW |
2 |
29,826,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6529:Gle1
|
UTSW |
2 |
29,825,539 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7144:Gle1
|
UTSW |
2 |
29,833,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Gle1
|
UTSW |
2 |
29,828,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8154:Gle1
|
UTSW |
2 |
29,828,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8203:Gle1
|
UTSW |
2 |
29,825,522 (GRCm39) |
missense |
probably benign |
|
|
R8348:Gle1
|
UTSW |
2 |
29,832,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9276:Gle1
|
UTSW |
2 |
29,829,514 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9367:Gle1
|
UTSW |
2 |
29,839,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation