Mutagenetix > Incidental Mutation

Incidental Mutation 'R0535:Gle1'

49400

Institutional Source

Beutler Lab

Gene Symbol

Gle1

Ensembl Gene

ENSMUSG00000019715

Gene Name

GLE1 RNA export mediator

Synonyms

4933405K21Rik

MMRRC Submission

038727-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29825421-29849444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29847817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 675 (F675L)

Ref Sequence

ENSEMBL: ENSMUSP00000019859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019859]

AlphaFold

Q8R322

Predicted Effect

probably damaging
Transcript: ENSMUST00000019859
AA Change: F675L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
AA Change: F675L

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: ENSMUST00000127390

Meta Mutation Damage Score

0.2852

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (52/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,019 (GRCm39)	S1069P	probably benign	Het
Acmsd	A	T	1: 127,693,680 (GRCm39)	I305L	probably benign	Het
Aco2	G	A	15: 81,797,418 (GRCm39)	E625K	possibly damaging	Het
Acox1	G	A	11: 116,065,264 (GRCm39)	T561I	possibly damaging	Het
Acox2	T	A	14: 8,256,753 (GRCm38)	T37S	probably damaging	Het
Apc	A	T	18: 34,394,125 (GRCm39)	K17M	probably damaging	Het
Cant1	T	C	11: 118,301,969 (GRCm39)	D116G	probably damaging	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
Cyp51	T	C	5: 4,149,202 (GRCm39)	Q225R	probably benign	Het
E2f8	T	C	7: 48,521,558 (GRCm39)		probably benign	Het
Fam163b	T	C	2: 27,002,778 (GRCm39)	Y73C	probably benign	Het
Fbxw9	T	C	8: 85,791,229 (GRCm39)	C271R	probably damaging	Het
Gbp10	T	C	5: 105,368,877 (GRCm39)	N321D	possibly damaging	Het
Gm6327	T	C	16: 12,578,241 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,538,824 (GRCm39)	F157I	possibly damaging	Het
Gtpbp1	A	T	15: 79,591,933 (GRCm39)	T94S	probably damaging	Het
Hdac2	T	C	10: 36,869,895 (GRCm39)	F286L	probably benign	Het
Ighv3-6	A	T	12: 114,252,090 (GRCm39)		probably benign	Het
Itga2b	A	G	11: 102,348,359 (GRCm39)	V791A	possibly damaging	Het
Itgb4	A	T	11: 115,881,835 (GRCm39)	I796F	possibly damaging	Het
Kel	T	C	6: 41,667,772 (GRCm39)	K390R	probably null	Het
Krt42	C	T	11: 100,155,412 (GRCm39)	C368Y	probably damaging	Het
Lancl1	A	G	1: 67,049,065 (GRCm39)		probably benign	Het
Lipg	A	G	18: 75,087,291 (GRCm39)	Y177H	probably damaging	Het
Lnpep	T	C	17: 17,791,935 (GRCm39)	E402G	possibly damaging	Het
Ltbp2	A	G	12: 84,837,826 (GRCm39)	F1185L	probably damaging	Het
Ltbp2	A	T	12: 84,831,632 (GRCm39)	I1727N	probably damaging	Het
Mettl22	T	C	16: 8,302,210 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,875,209 (GRCm39)	E847G	possibly damaging	Het
Mug1	G	A	6: 121,828,413 (GRCm39)	G275E	probably benign	Het
Nell2	T	A	15: 95,329,488 (GRCm39)	T278S	probably benign	Het
Nomo1	T	A	7: 45,721,941 (GRCm39)	S961T	probably damaging	Het
Or5ak22	A	G	2: 85,230,439 (GRCm39)	L146P	possibly damaging	Het
Pcare	A	G	17: 72,059,434 (GRCm39)	V81A	probably benign	Het
Phf2	A	G	13: 48,967,423 (GRCm39)	Y675H	unknown	Het
Phldb2	A	G	16: 45,577,490 (GRCm39)	V1145A	probably damaging	Het
Phrf1	T	C	7: 140,839,978 (GRCm39)	S1058P	probably benign	Het
Prss3	T	C	6: 41,351,903 (GRCm39)	N120S	probably benign	Het
Reln	G	T	5: 22,256,274 (GRCm39)		probably benign	Het
Spag5	A	G	11: 78,195,554 (GRCm39)	Y287C	probably benign	Het
Syde2	G	A	3: 145,694,925 (GRCm39)		probably null	Het
Synj1	C	A	16: 90,744,975 (GRCm39)	V1190F	possibly damaging	Het
Taok1	A	T	11: 77,444,530 (GRCm39)	I515N	probably benign	Het
Tmem259	A	T	10: 79,814,429 (GRCm39)	V309E	probably damaging	Het
Tmem62	T	A	2: 120,833,077 (GRCm39)	V494E	possibly damaging	Het
Trak1	A	T	9: 121,272,778 (GRCm39)	E119V	probably null	Het
Vmn1r1	T	A	1: 181,985,516 (GRCm39)	I50L	probably benign	Het
Vps35l	T	C	7: 118,347,404 (GRCm39)	F118S	possibly damaging	Het
Xpc	C	T	6: 91,481,560 (GRCm39)	V254I	possibly damaging	Het
Zfp58	G	A	13: 67,640,201 (GRCm39)	Q97*	probably null	Het
Zscan5b	A	G	7: 6,236,911 (GRCm39)	E220G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCATTTAGGAGGTTCAAACACACA -3'
(R):5'- GTGGGGAGGAAATGACATACTTTGGTC -3'

Sequencing Primer
(F):5'- aaccaccaagccatctctc -3'
(R):5'- CATACTTTGGTCTAAAAGACAAGGG -3'

Posted On

2013-06-12