Incidental Mutation 'IGL03368:Gle1'
ID |
420171 |
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 # |
IGL03368
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
29825421-29849444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29833805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 401
(C401R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019859]
|
AlphaFold |
Q8R322 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019859
AA Change: C401R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019859 Gene: ENSMUSG00000019715 AA Change: C401R
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,455,090 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
Btnl10 |
G |
A |
11: 58,810,212 (GRCm39) |
V118I |
possibly damaging |
Het |
Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
Sephs1 |
G |
A |
2: 4,894,080 (GRCm39) |
D94N |
possibly damaging |
Het |
Slc22a29 |
A |
C |
19: 8,184,626 (GRCm39) |
|
probably null |
Het |
Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
Terf2 |
T |
C |
8: 107,797,181 (GRCm39) |
E494G |
probably damaging |
Het |
Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
Ube2j1 |
T |
A |
4: 33,038,317 (GRCm39) |
I75N |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
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 |
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 |
2016-08-02 |