Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Gle1'

158403

Institutional Source

Beutler Lab

Gene Symbol

Gle1

Ensembl Gene

ENSMUSG00000019715

Gene Name

GLE1 RNA export mediator

Synonyms

4933405K21Rik

MMRRC Submission

039368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1302 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

29825421-29849444 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 29842564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019859 (fasta)

Gene Model

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

AlphaFold

Q8R322

Predicted Effect

probably null
Transcript: ENSMUST00000019859

SMART Domains

Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715

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: ENSMUST00000124687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127390

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 125,566,607 (GRCm39)	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,837,477 (GRCm39)	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,662,802 (GRCm39)	M548K	probably damaging	Het
Acat1	T	C	9: 53,500,525 (GRCm39)	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,080,752 (GRCm39)	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,322,328 (GRCm39)	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,092,403 (GRCm39)	G275S	probably damaging	Het
Ascc3	T	A	10: 50,480,890 (GRCm39)	M1K	probably null	Het
Atf7ip2	T	C	16: 10,058,472 (GRCm39)	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518 (GRCm39)	C333*	probably null	Het
Ccdc68	G	A	18: 70,072,033 (GRCm39)	V37M	probably damaging	Het
Cda	T	A	4: 138,078,502 (GRCm39)	I87F	probably damaging	Het
Chst1	A	T	2: 92,443,864 (GRCm39)	D112V	probably damaging	Het
Chtf18	T	C	17: 25,938,132 (GRCm39)	D967G	probably damaging	Het
Col5a1	A	G	2: 27,895,248 (GRCm39)	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,199,376 (GRCm39)	F12V	probably damaging	Het
Ctif	G	T	18: 75,654,749 (GRCm39)	P259Q	probably benign	Het
Duox1	A	T	2: 122,177,760 (GRCm39)	I1515F	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Flt1	A	G	5: 147,501,050 (GRCm39)	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,562,959 (GRCm39)	D516G	probably benign	Het
Gin1	A	T	1: 97,703,314 (GRCm39)	K46*	probably null	Het
Gm11146	T	G	16: 77,398,970 (GRCm39)	I5L	unknown	Het
Gpr153	C	T	4: 152,364,400 (GRCm39)	T152M	probably damaging	Het
H1f8	A	T	6: 115,924,610 (GRCm39)	R39*	probably null	Het
Hdlbp	A	T	1: 93,351,107 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,562,861 (GRCm39)	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,407,746 (GRCm39)	P32T	probably benign	Het
Ints10	T	A	8: 69,279,964 (GRCm39)	V697E	probably damaging	Het
Krt14	A	G	11: 100,094,173 (GRCm39)	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,203,667 (GRCm39)	I388F	unknown	Het
Ldha	A	C	7: 46,497,063 (GRCm39)	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,161,267 (GRCm39)	S232P	probably benign	Het
Med1	G	T	11: 98,048,275 (GRCm39)	D840E	possibly damaging	Het
Med23	T	A	10: 24,764,320 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,099 (GRCm39)	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,351,301 (GRCm39)	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,342,371 (GRCm39)	S425P	possibly damaging	Het
Nova1	A	T	12: 46,767,581 (GRCm39)	H113Q	unknown	Het
Npc1	T	C	18: 12,328,142 (GRCm39)	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,407,233 (GRCm39)	H354R	probably benign	Het
Ogfod3	A	G	11: 121,074,300 (GRCm39)	F250L	probably damaging	Het
Pclo	A	G	5: 14,731,647 (GRCm39)	D3383G	unknown	Het
Pde1b	T	A	15: 103,436,026 (GRCm39)	D457E	probably benign	Het
Pkd1	C	G	17: 24,787,210 (GRCm39)	S581R	probably benign	Het
Pno1	T	A	11: 17,154,545 (GRCm39)	Q212L	probably benign	Het
Polr3b	C	T	10: 84,468,350 (GRCm39)	P112L	probably damaging	Het
Pomk	T	A	8: 26,473,102 (GRCm39)	I284F	probably damaging	Het
Rapgef4	A	T	2: 71,875,504 (GRCm39)	D119V	probably benign	Het
Rprm	A	T	2: 53,975,165 (GRCm39)	L51Q	probably benign	Het
Spata31e5	A	T	1: 28,815,421 (GRCm39)	D870E	probably benign	Het
Taok3	A	C	5: 117,337,108 (GRCm39)	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,730,963 (GRCm39)	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,333,879 (GRCm39)	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,723 (GRCm39)	D235E	possibly damaging	Het
Vapb	C	A	2: 173,613,330 (GRCm39)	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,387,465 (GRCm39)	I700V	probably damaging	Het
Wwc1	G	A	11: 35,734,984 (GRCm39)	R964W	probably damaging	Het
Zfp644	A	T	5: 106,782,765 (GRCm39)	V1203D	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
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
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'- CCAAGAATAGACAATTAGTGTGCCGTGA -3'
(R):5'- GCTGGGTAACGGGAGCCCAT -3'

Sequencing Primer
(F):5'- cagtaagttcaaagccagcc -3'
(R):5'- TAACGGGAGCCCATTCTTGG -3'

Posted On

2014-02-18