Mutagenetix > Incidental Mutation

Incidental Mutation 'R4775:Gle1'

367824

Institutional Source

Beutler Lab

Gene Symbol

Gle1

Ensembl Gene

ENSMUSG00000019715

Gene Name

GLE1 RNA export mediator

Synonyms

4933405K21Rik

MMRRC Submission

041991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29825421-29849444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29826073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 51 (W51R)

Ref Sequence

ENSEMBL: ENSMUSP00000019859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019859] [ENSMUST00000046571] [ENSMUST00000113756] [ENSMUST00000113757] [ENSMUST00000113759] [ENSMUST00000113765] [ENSMUST00000184845]

AlphaFold

Q8R322

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019859
AA Change: W51R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
AA Change: W51R

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: ENSMUST00000113757

SMART Domains

Protein: ENSMUSP00000109386
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	101	119	9.13e-6	PROSPERO
coiled coil region	120	192	N/A	INTRINSIC
internal_repeat_2	199	217	9.13e-6	PROSPERO
internal_repeat_1	243	279	3.83e-7	PROSPERO
internal_repeat_1	442	476	3.83e-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

probably benign
Transcript: ENSMUST00000113765

SMART Domains

Protein: ENSMUSP00000109394
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
internal_repeat_2	125	143	1.66e-5	PROSPERO
coiled coil region	144	216	N/A	INTRINSIC
internal_repeat_2	223	241	1.66e-5	PROSPERO
internal_repeat_1	267	303	7.56e-7	PROSPERO
internal_repeat_1	466	500	7.56e-7	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157723

Predicted Effect

probably benign
Transcript: ENSMUST00000184845

SMART Domains

Protein: ENSMUSP00000139390
Gene: ENSMUSG00000026790

Domain	Start	End	E-Value	Type
coiled coil region	139	211	N/A	INTRINSIC
internal_repeat_1	262	298	3.95e-5	PROSPERO
internal_repeat_1	461	495	3.95e-5	PROSPERO

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,134,165 (GRCm39)	Y426C	probably damaging	Het
Adam7	A	G	14: 68,745,361 (GRCm39)	I621T	probably benign	Het
Adamts1	A	T	16: 85,597,278 (GRCm39)	Y260*	probably null	Het
Adgrf1	C	T	17: 43,622,054 (GRCm39)	L764F	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Atp9b	A	G	18: 80,808,984 (GRCm39)		probably null	Het
C5ar2	A	C	7: 15,971,540 (GRCm39)	L129R	probably damaging	Het
Ccdc174	G	A	6: 91,867,875 (GRCm39)		probably null	Het
Cidec	T	C	6: 113,411,695 (GRCm39)	M1V	probably null	Het
Clec16a	G	T	16: 10,456,778 (GRCm39)	R663L	probably damaging	Het
Col25a1	T	C	3: 129,976,468 (GRCm39)	C118R	possibly damaging	Het
Cox6b2	A	G	7: 4,755,074 (GRCm39)	C67R	probably damaging	Het
Cspg4b	A	T	13: 113,454,229 (GRCm39)	I92F	possibly damaging	Het
Cwf19l2	A	G	9: 3,430,973 (GRCm39)	Y435C	probably benign	Het
Dapk1	T	A	13: 60,897,156 (GRCm39)	S792T	probably benign	Het
Dis3l	T	A	9: 64,238,190 (GRCm39)	N101Y	probably benign	Het
Dsg4	A	G	18: 20,604,184 (GRCm39)	T884A	possibly damaging	Het
Dvl1	T	C	4: 155,942,584 (GRCm39)	W617R	probably benign	Het
Eml5	A	G	12: 98,768,566 (GRCm39)	V1503A	probably benign	Het
Engase	A	T	11: 118,373,497 (GRCm39)	D280V	probably benign	Het
F11r	T	C	1: 171,289,209 (GRCm39)	S224P	probably damaging	Het
Fanca	A	G	8: 124,023,045 (GRCm39)	V564A	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Gm94	A	G	18: 43,925,836 (GRCm39)		probably null	Het
Gm9830	A	T	9: 44,375,721 (GRCm39)		noncoding transcript	Het
Gpaa1	T	A	15: 76,218,891 (GRCm39)		probably null	Het
Grin1	C	T	2: 25,182,475 (GRCm39)	A929T	possibly damaging	Het
Grm7	T	A	6: 110,891,332 (GRCm39)	D188E	probably damaging	Het
Gtf2ird2	T	C	5: 134,242,970 (GRCm39)	F395L	probably benign	Het
Lipo3	C	A	19: 33,757,795 (GRCm39)	G225C	probably damaging	Het
Lonrf2	T	A	1: 38,857,140 (GRCm39)		probably null	Het
Marveld2	A	G	13: 100,753,303 (GRCm39)		probably benign	Het
Mpl	A	G	4: 118,305,777 (GRCm39)	L416P	probably damaging	Het
Mppe1	A	G	18: 67,359,930 (GRCm39)	L312P	possibly damaging	Het
Mpzl3	T	A	9: 44,977,730 (GRCm39)	S113T	probably damaging	Het
Mylk3	G	A	8: 86,085,689 (GRCm39)	Q149*	probably null	Het
Myt1	T	A	2: 181,464,470 (GRCm39)	I968N	probably damaging	Het
Ndc80	A	G	17: 71,821,265 (GRCm39)	Y228H	probably damaging	Het
Nelfcd	T	G	2: 174,268,369 (GRCm39)	C520G	probably damaging	Het
Nfrkb	C	A	9: 31,330,345 (GRCm39)	T1199K	possibly damaging	Het
Nipa2	A	G	7: 55,585,611 (GRCm39)	I109T	probably benign	Het
Nlrp4e	A	G	7: 23,042,525 (GRCm39)	T804A	probably benign	Het
Nsf	A	T	11: 103,763,419 (GRCm39)	I395K	possibly damaging	Het
Nt5c1b	G	A	12: 10,425,449 (GRCm39)	V331I	probably damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or1e29	A	G	11: 73,667,377 (GRCm39)	Y259H	probably damaging	Het
Pask	T	C	1: 93,265,246 (GRCm39)	D3G	probably damaging	Het
Pglyrp3	T	C	3: 91,933,037 (GRCm39)	V110A	possibly damaging	Het
Ppp4r3a	C	T	12: 101,019,825 (GRCm39)	V377M	probably damaging	Het
Prr12	A	G	7: 44,700,749 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,135,922 (GRCm39)		probably null	Het
Qser1	A	G	2: 104,620,246 (GRCm39)	S189P	probably damaging	Het
Rph3a	T	A	5: 121,092,551 (GRCm39)	Y350F	probably benign	Het
Skint4	A	T	4: 111,993,261 (GRCm39)	H328L	probably damaging	Het
Smyd4	G	A	11: 75,282,018 (GRCm39)	C497Y	probably damaging	Het
Stk11ip	T	C	1: 75,510,497 (GRCm39)	W864R	possibly damaging	Het
Stkld1	T	A	2: 26,841,757 (GRCm39)	V543E	probably damaging	Het
Taok2	A	G	7: 126,469,940 (GRCm39)	S963P	probably damaging	Het
Tars2	A	G	3: 95,653,959 (GRCm39)	L354P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn2	A	G	7: 144,821,079 (GRCm39)	L325P	probably damaging	Het
Trappc3l	C	G	10: 33,974,807 (GRCm39)	H96Q	probably benign	Het
Trim66	A	T	7: 109,056,796 (GRCm39)	Y1120*	probably null	Het
Trio	G	A	15: 27,881,428 (GRCm39)	Q548*	probably null	Het
Wipf2	T	A	11: 98,781,558 (GRCm39)	D32E	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
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
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'- TTGGGCCTTCAGCTGTTAAG -3'
(R):5'- AAGCCTTACCTGGGTTCCATTTG -3'

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

Posted On

2015-12-29