Incidental Mutation 'R5903:Gle1'
| ID |
456426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gle1
|
| Ensembl Gene |
ENSMUSG00000019715 |
| Gene Name |
GLE1 RNA export mediator |
| Synonyms |
4933405K21Rik |
| MMRRC Submission |
044101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5903 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29825421-29849444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29830293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 283
(T283N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019859]
|
| AlphaFold |
Q8R322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019859
AA Change: T283N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
AA Change: T283N
| 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
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
98% (58/59) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
G |
5: 66,145,661 (GRCm39) |
V150A |
unknown |
Het |
| Abraxas1 |
T |
C |
5: 100,965,824 (GRCm39) |
|
probably null |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,605,618 (GRCm39) |
D1449G |
possibly damaging |
Het |
| Atg7 |
G |
A |
6: 114,683,254 (GRCm39) |
W439* |
probably null |
Het |
| Atp6v0a2 |
T |
A |
5: 124,789,343 (GRCm39) |
I370N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,760 (GRCm39) |
D347G |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,790,233 (GRCm39) |
C660Y |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,896,801 (GRCm39) |
Y1390C |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,002,837 (GRCm39) |
Q745* |
probably null |
Het |
| Cep97 |
G |
A |
16: 55,739,889 (GRCm39) |
S185L |
probably damaging |
Het |
| Clec4d |
A |
G |
6: 123,244,020 (GRCm39) |
H43R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,219,094 (GRCm39) |
M509L |
probably benign |
Het |
| Cntrob |
A |
C |
11: 69,200,201 (GRCm39) |
S564R |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,514 (GRCm39) |
N37I |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,219 (GRCm39) |
T1029A |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,829,121 (GRCm39) |
V64E |
probably damaging |
Het |
| Fmnl1 |
G |
T |
11: 103,062,270 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,870,783 (GRCm39) |
M1K |
probably null |
Het |
| Hsd17b14 |
T |
C |
7: 45,215,386 (GRCm39) |
V161A |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,380,819 (GRCm39) |
S218P |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,650,020 (GRCm39) |
C736S |
probably damaging |
Het |
| Itpkb |
G |
T |
1: 180,241,540 (GRCm39) |
V737L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,466,758 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
G |
T |
17: 53,110,364 (GRCm39) |
V192L |
possibly damaging |
Het |
| Kctd10 |
G |
A |
5: 114,518,523 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
C |
A |
6: 71,609,234 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,066,447 (GRCm39) |
M990L |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,260,124 (GRCm39) |
S202P |
probably damaging |
Het |
| Krt81 |
T |
G |
15: 101,358,083 (GRCm39) |
Q390P |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,844,347 (GRCm39) |
S604P |
probably damaging |
Het |
| Ms4a1 |
A |
T |
19: 11,235,612 (GRCm39) |
V48D |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,100,239 (GRCm39) |
P688L |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,040 (GRCm39) |
V250A |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,521,912 (GRCm39) |
Y277* |
probably null |
Het |
| Or52z13 |
G |
T |
7: 103,247,128 (GRCm39) |
G202* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,831,071 (GRCm39) |
E265G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,718 (GRCm39) |
I101T |
possibly damaging |
Het |
| Psme4 |
A |
T |
11: 30,791,589 (GRCm39) |
N1148I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,312,195 (GRCm39) |
L874P |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,889,300 (GRCm39) |
Y508C |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,569,305 (GRCm39) |
|
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,098,655 (GRCm39) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 180,950,573 (GRCm39) |
K78E |
possibly damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,389 (GRCm39) |
N302I |
possibly damaging |
Het |
| Trdv5 |
A |
T |
14: 54,386,242 (GRCm39) |
H74Q |
probably benign |
Het |
| Tubb4b |
C |
T |
2: 25,113,993 (GRCm39) |
R77H |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,147,503 (GRCm39) |
C438S |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,440,396 (GRCm39) |
C1946F |
unknown |
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 |
|
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 |
|
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'- ACCTAAAGCTTCGAGAGGCAG -3'
(R):5'- CTCCAACAGGCAGGCATTAC -3'
Sequencing Primer
(F):5'- CTTCGAGAGGCAGAGCAGC -3'
(R):5'- GTCCAGGAACTCGTTCTGTAGAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation