Incidental Mutation 'R0908:Gle1'
ID |
83380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gle1
|
Ensembl Gene |
ENSMUSG00000019715 |
Gene Name |
GLE1 RNA export mediator |
Synonyms |
4933405K21Rik |
MMRRC Submission |
039066-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0908 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
29825421-29849444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29826133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 71
(S71P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019859]
[ENSMUST00000046571]
[ENSMUST00000113756]
[ENSMUST00000113759]
|
AlphaFold |
Q8R322 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019859
AA Change: S71P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000019859 Gene: ENSMUSG00000019715 AA Change: S71P
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 |
probably benign
Transcript: ENSMUST00000046571
|
SMART Domains |
Protein: ENSMUSP00000049272 Gene: ENSMUSG00000026790
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
120 |
138 |
1.77e-5 |
PROSPERO |
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
internal_repeat_2
|
218 |
236 |
1.77e-5 |
PROSPERO |
internal_repeat_1
|
262 |
298 |
8.12e-7 |
PROSPERO |
internal_repeat_1
|
461 |
495 |
8.12e-7 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113756
|
SMART Domains |
Protein: ENSMUSP00000109385 Gene: ENSMUSG00000026790
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
120 |
138 |
1.77e-5 |
PROSPERO |
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
internal_repeat_2
|
218 |
236 |
1.77e-5 |
PROSPERO |
internal_repeat_1
|
262 |
298 |
8.12e-7 |
PROSPERO |
internal_repeat_1
|
461 |
495 |
8.12e-7 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113759
|
SMART Domains |
Protein: ENSMUSP00000109388 Gene: ENSMUSG00000026790
Domain | Start | End | E-Value | Type |
internal_repeat_2
|
120 |
138 |
1.82e-5 |
PROSPERO |
coiled coil region
|
139 |
211 |
N/A |
INTRINSIC |
internal_repeat_2
|
218 |
236 |
1.82e-5 |
PROSPERO |
internal_repeat_1
|
262 |
299 |
1.55e-6 |
PROSPERO |
internal_repeat_1
|
462 |
496 |
1.55e-6 |
PROSPERO |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154490
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157723
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGCAGGCTCCCTAGTGACCG -3'
(R):5'- CCTTGCAGCCAACAAGTCTTTTGTC -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- GCCAACAAGTCTTTTGTCTTAAGC -3'
|
Posted On |
2013-11-08 |