Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Gle1'

553602

Institutional Source

Beutler Lab

Gene Symbol

Gle1

Ensembl Gene

ENSMUSG00000019715

Gene Name

GLE1 RNA export mediator (yeast)

Synonyms

4933405K21Rik

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29935426-29960371 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29943793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 401 (C401G)

Ref Sequence

ENSEMBL: ENSMUSP00000019859 (fasta)

Gene Model

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

AlphaFold

Q8R322

Predicted Effect

probably damaging
Transcript: ENSMUST00000019859
AA Change: C401G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019859
Gene: ENSMUSG00000019715
AA Change: C401G

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

Meta Mutation Damage Score

0.6377

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,433,573 (GRCm38)	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,510,370 (GRCm38)	M184I	probably benign	Het
Aldoa	G	T	7: 126,796,862 (GRCm38)	T124N	possibly damaging	Het
Ap4e1	T	A	2: 127,011,807 (GRCm38)	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,865,387 (GRCm38)	T913A	probably benign	Het
Atrnl1	G	A	19: 58,042,352 (GRCm38)	E1309K	probably damaging	Het
BC034090	A	T	1: 155,242,031 (GRCm38)	C114S	probably damaging	Het
Brinp2	A	G	1: 158,295,424 (GRCm38)		probably null	Het
Ccna1	G	T	3: 55,045,699 (GRCm38)	H408Q	probably benign	Het
Cd209g	T	G	8: 4,135,189 (GRCm38)		probably benign	Het
Cdc20b	A	G	13: 113,083,371 (GRCm38)	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,354,358 (GRCm38)	P5L	probably damaging	Het
Cep128	T	C	12: 91,294,159 (GRCm38)	E310G	probably damaging	Het
Cflar	G	T	1: 58,753,848 (GRCm38)	V458F		Het
Clec4b2	A	G	6: 123,181,384 (GRCm38)	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,286,888 (GRCm38)	T741A	probably benign	Het
Csf3r	A	T	4: 126,043,722 (GRCm38)	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,637,899 (GRCm38)	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,615,694 (GRCm38)	V406E	probably benign	Het
Dnah10	A	G	5: 124,822,942 (GRCm38)	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,698,708 (GRCm38)		probably null	Het
Dst	A	G	1: 34,152,243 (GRCm38)	N208S	probably damaging	Het
Echdc3	A	G	2: 6,206,413 (GRCm38)		probably null	Het
Edrf1	T	C	7: 133,637,849 (GRCm38)	S13P	probably benign	Het
Ephb1	T	C	9: 101,964,077 (GRCm38)	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,472,185 (GRCm38)	Y325C	probably damaging	Het
Evc2	A	G	5: 37,386,839 (GRCm38)	D644G	probably damaging	Het
Eya4	A	C	10: 23,173,045 (GRCm38)	D54E	probably benign	Het
Filip1	T	C	9: 79,820,213 (GRCm38)	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,677,620 (GRCm38)	M68T	probably benign	Het
Gemin5	G	C	11: 58,141,663 (GRCm38)	P772A	probably benign	Het
Gm14548	A	G	7: 3,897,616 (GRCm38)	V45A	probably damaging	Het
Gm7298	A	T	6: 121,761,587 (GRCm38)	I376F	probably damaging	Het
Gpr35	A	C	1: 92,982,631 (GRCm38)	I22L	probably benign	Het
Grin2b	T	G	6: 135,733,476 (GRCm38)	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,663,873 (GRCm38)	N2956D	probably damaging	Het
Htt	T	C	5: 34,846,006 (GRCm38)	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,743,691 (GRCm38)	D2G	probably benign	Het
Il16	T	A	7: 83,646,451 (GRCm38)	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,116,910 (GRCm38)	I1513N	probably damaging	Het
Kiz	T	G	2: 146,950,510 (GRCm38)		probably null	Het
Krt12	A	T	11: 99,416,013 (GRCm38)	*488K	probably null	Het
Lap3	A	T	5: 45,496,948 (GRCm38)	T83S	probably benign	Het
Lars2	T	A	9: 123,431,993 (GRCm38)	S410T	probably damaging	Het
Limch1	A	G	5: 67,017,658 (GRCm38)	T518A	probably benign	Het
Lrrc49	A	T	9: 60,615,156 (GRCm38)	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,734,055 (GRCm38)	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,318 (GRCm38)	S363C	probably damaging	Het
Mrps22	A	C	9: 98,601,471 (GRCm38)		probably null	Het
Mybpc3	T	C	2: 91,134,604 (GRCm38)	I1066T	probably benign	Het
Myo10	A	T	15: 25,723,925 (GRCm38)	N215I	probably damaging	Het
Myocd	A	C	11: 65,218,648 (GRCm38)	L99R	probably damaging	Het
Nadk	T	G	4: 155,589,336 (GRCm38)	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,811,215 (GRCm38)	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,237,151 (GRCm38)	V684L	probably benign	Het
Ncapd2	G	A	6: 125,176,670 (GRCm38)	P694L	probably benign	Het
Olfr1101	G	T	2: 86,988,820 (GRCm38)	R119S	probably damaging	Het
Olfr1243	T	C	2: 89,527,557 (GRCm38)	I284M	probably damaging	Het
Olfr317	A	C	11: 58,732,745 (GRCm38)	L140R	probably damaging	Het
Olfr705	T	A	7: 106,873,868 (GRCm38)	I126F	probably damaging	Het
Pcdhb13	T	A	18: 37,443,256 (GRCm38)	I229K	probably damaging	Het
Pgbd5	A	T	8: 124,374,317 (GRCm38)	M400K	possibly damaging	Het
Phactr3	A	G	2: 178,302,736 (GRCm38)	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,629,870 (GRCm38)	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,650,584 (GRCm38)	V379M	probably damaging	Het
Pkd1l2	A	T	8: 117,076,131 (GRCm38)	C250*	probably null	Het
Pramef17	A	C	4: 143,991,533 (GRCm38)	S447A	probably benign	Het
Rapgef6	A	C	11: 54,657,365 (GRCm38)	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,805,191 (GRCm38)	D170G	probably damaging	Het
Rnf17	G	A	14: 56,512,332 (GRCm38)		probably null	Het
Sept11	A	G	5: 93,156,866 (GRCm38)	I181V	probably benign	Het
Serpina1e	T	G	12: 103,947,018 (GRCm38)	*414C	probably null	Het
Serpine1	C	A	5: 137,071,064 (GRCm38)	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,561,631 (GRCm38)	N560S	probably benign	Het
Slc25a25	A	G	2: 32,419,166 (GRCm38)	F221S	probably damaging	Het
Spag17	G	T	3: 100,027,401 (GRCm38)		probably null	Het
Sspn	T	C	6: 145,961,155 (GRCm38)	L104P	probably damaging	Het
St18	A	C	1: 6,833,594 (GRCm38)	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,411,532 (GRCm38)	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,876,669 (GRCm38)	D156G	probably damaging	Het
Syne2	C	A	12: 76,005,378 (GRCm38)	S4092R	probably benign	Het
Tll1	T	A	8: 64,124,945 (GRCm38)	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,308,453 (GRCm38)		probably benign	Het
Tnfaip3	T	A	10: 19,007,281 (GRCm38)	T179S	probably benign	Het
Trav16	T	C	14: 53,743,639 (GRCm38)	I95T	possibly damaging	Het
Trip12	A	T	1: 84,793,714 (GRCm38)	S280T	probably damaging	Het
Unc79	A	G	12: 103,142,626 (GRCm38)	M2166V	probably benign	Het
Vmn2r1	A	G	3: 64,089,941 (GRCm38)	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,605,431 (GRCm38)		probably null	Het
Washc4	A	T	10: 83,573,774 (GRCm38)		probably null	Het
Wisp1	T	A	15: 66,913,030 (GRCm38)	V184E	probably damaging	Het
Wiz	A	G	17: 32,357,628 (GRCm38)	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,110,041 (GRCm38)	K60N	possibly damaging	Het
Zfat	T	A	15: 68,178,782 (GRCm38)	T797S	probably benign	Het
Zfp74	T	C	7: 29,935,165 (GRCm38)	K373E	probably damaging	Het
Zswim5	T	C	4: 116,975,976 (GRCm38)		probably null	Het

Other mutations in Gle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Gle1	APN	2	29,939,289 (GRCm38)	splice site	probably benign
IGL01880:Gle1	APN	2	29,943,750 (GRCm38)	missense	possibly damaging	0.53
IGL02293:Gle1	APN	2	29,957,760 (GRCm38)	missense	probably benign	0.00
IGL02859:Gle1	APN	2	29,949,228 (GRCm38)	missense	probably damaging	1.00
IGL03368:Gle1	APN	2	29,943,793 (GRCm38)	missense	probably damaging	1.00
R0535:Gle1	UTSW	2	29,957,805 (GRCm38)	missense	probably damaging	1.00
R0608:Gle1	UTSW	2	29,940,228 (GRCm38)	missense	probably benign	0.01
R0839:Gle1	UTSW	2	29,958,450 (GRCm38)	missense	probably benign	0.28
R0908:Gle1	UTSW	2	29,936,121 (GRCm38)	missense	probably benign	0.06
R1102:Gle1	UTSW	2	29,944,054 (GRCm38)	missense	possibly damaging	0.88
R1202:Gle1	UTSW	2	29,949,265 (GRCm38)	missense	probably damaging	1.00
R1302:Gle1	UTSW	2	29,952,552 (GRCm38)	splice site	probably null
R2184:Gle1	UTSW	2	29,949,018 (GRCm38)	missense	probably damaging	1.00
R2213:Gle1	UTSW	2	29,949,301 (GRCm38)	missense	probably damaging	0.97
R4151:Gle1	UTSW	2	29,944,044 (GRCm38)	missense	probably damaging	1.00
R4172:Gle1	UTSW	2	29,938,526 (GRCm38)	missense	probably benign
R4732:Gle1	UTSW	2	29,940,232 (GRCm38)	missense	probably damaging	0.96
R4733:Gle1	UTSW	2	29,940,232 (GRCm38)	missense	probably damaging	0.96
R4775:Gle1	UTSW	2	29,936,061 (GRCm38)	missense	possibly damaging	0.86
R4817:Gle1	UTSW	2	29,936,211 (GRCm38)	missense	probably benign	0.00
R4824:Gle1	UTSW	2	29,940,203 (GRCm38)	missense	possibly damaging	0.82
R4869:Gle1	UTSW	2	29,936,020 (GRCm38)	missense	possibly damaging	0.69
R4909:Gle1	UTSW	2	29,936,080 (GRCm38)	missense	probably benign	0.01
R5036:Gle1	UTSW	2	29,936,211 (GRCm38)	missense	probably benign	0.00
R5298:Gle1	UTSW	2	29,948,943 (GRCm38)	missense	probably benign	0.02
R5903:Gle1	UTSW	2	29,940,281 (GRCm38)	missense	probably benign	0.00
R6345:Gle1	UTSW	2	29,936,115 (GRCm38)	missense	probably benign	0.00
R6529:Gle1	UTSW	2	29,935,527 (GRCm38)	missense	possibly damaging	0.56
R7984:Gle1	UTSW	2	29,938,576 (GRCm38)	missense	probably damaging	0.99
R8154:Gle1	UTSW	2	29,938,607 (GRCm38)	critical splice donor site	probably null
R8203:Gle1	UTSW	2	29,935,510 (GRCm38)	missense	probably benign
R8348:Gle1	UTSW	2	29,942,544 (GRCm38)	missense	possibly damaging	0.86
R9276:Gle1	UTSW	2	29,939,502 (GRCm38)	missense	possibly damaging	0.51
R9367:Gle1	UTSW	2	29,949,002 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATAGCATTGTGTTTAGACCAG -3'
(R):5'- TCTGTCAAGAGAATGATGACTTGG -3'

Sequencing Primer
(F):5'- GAAAAGCAGCCTTTCTGTGC -3'
(R):5'- TCAAGAGAATGATGACTTGGTAAGTG -3'

Posted On

2019-05-15