Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Gle1'

514085

Institutional Source

Beutler Lab

Gene Symbol

Gle1

Ensembl Gene

ENSMUSG00000019715

Gene Name

GLE1 RNA export mediator

Synonyms

4933405K21Rik

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29825421-29849444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 29826127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 69 (P69A)

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: P69A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
AA Change: P69A

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

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	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
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
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'- TGGACATACAAATAGGGTTAACCG -3'
(R):5'- ATTTCAACCTTGCAGCCAAC -3'

Sequencing Primer
(F):5'- CAGATTTCTGAGTTCGAGACCAGC -3'
(R):5'- TGCAGCCAACAAGTCTTTTG -3'

Posted On

2018-04-27