Incidental Mutation 'IGL01880:Gle1'
| ID |
179020 |
| 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 # |
IGL01880
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
29825421-29849444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29833762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 386
(S386R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019859]
|
| AlphaFold |
Q8R322 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019859
AA Change: S386R
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
AA Change: S386R
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,184,089 (GRCm39) |
T1003A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,425,141 (GRCm39) |
F143S |
probably damaging |
Het |
| Dnaaf2 |
A |
T |
12: 69,236,811 (GRCm39) |
L766I |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Klrb1 |
A |
T |
6: 128,689,282 (GRCm39) |
V63E |
possibly damaging |
Het |
| Mettl1 |
A |
G |
10: 126,880,492 (GRCm39) |
H138R |
probably damaging |
Het |
| Or7c19 |
A |
G |
8: 85,957,712 (GRCm39) |
N196S |
probably benign |
Het |
| Or8g2 |
T |
A |
9: 39,821,237 (GRCm39) |
I46N |
possibly damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,285,690 (GRCm39) |
V371L |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,814,159 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
A |
C |
19: 59,063,881 (GRCm39) |
|
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,768,164 (GRCm39) |
R503G |
probably benign |
Het |
| Smarcd2 |
G |
A |
11: 106,157,503 (GRCm39) |
R148W |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ssc5d |
T |
A |
7: 4,936,218 (GRCm39) |
V488E |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
| Vps41 |
T |
G |
13: 18,994,641 (GRCm39) |
S163A |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 128,859,298 (GRCm39) |
L1110F |
probably damaging |
Het |
|
| Other mutations in Gle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Gle1
|
APN |
2 |
29,829,301 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation