Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01700:Xpo1'

104455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 23276422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020538] [ENSMUST00000102869] [ENSMUST00000102870] [ENSMUST00000109551]

AlphaFold

Q6P5F9

PDB Structure

Crystal Structure of the Nuclear Export Complex CRM1-Snurportin1-RanGTP [X-RAY DIFFRACTION]
Crystal structure of the PKI NES-CRM1-RanGTP nuclear export complex [X-RAY DIFFRACTION]
Crystal structure of the HIV-1 Rev NES-CRM1-RanGTP nuclear export complex (crystal I) [X-RAY DIFFRACTION]
Crystal structure of the HIV-1 Rev NES-CRM1-RanGTP nuclear export complex (crystal II) [X-RAY DIFFRACTION]
Crystal structure of the CRM1-RanGTP complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020538

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290

Domain	Start	End	E-Value	Type
IBN_N	46	112	2.3e-10	SMART
Pfam:Xpo1	123	268	1.3e-44	PFAM
Blast:IL1	407	518	9e-14	BLAST
Blast:CRM1_C	590	699	1e-22	BLAST
CRM1_C	709	1027	4.63e-211	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102869

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290

Domain	Start	End	E-Value	Type
IBN_N	46	112	2.3e-10	SMART
Pfam:Xpo1	123	268	7.4e-44	PFAM
Blast:IL1	407	518	9e-14	BLAST
Blast:CRM1_C	590	699	1e-22	BLAST
CRM1_C	709	1027	4.63e-211	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102870

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290

Domain	Start	End	E-Value	Type
IBN_N	46	112	2.3e-10	SMART
Pfam:Xpo1	123	268	1.3e-44	PFAM
Blast:IL1	407	518	9e-14	BLAST
Blast:CRM1_C	590	699	1e-22	BLAST
CRM1_C	709	1027	4.63e-211	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109551

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290

Domain	Start	End	E-Value	Type
IBN_N	46	112	2.3e-10	SMART
Pfam:Xpo1	123	268	1.3e-44	PFAM
Blast:IL1	407	518	9e-14	BLAST
Blast:CRM1_C	590	699	1e-22	BLAST
CRM1_C	709	1027	4.63e-211	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149371

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Xpo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Xpo1	APN	11	23285094	missense	probably damaging	1.00
IGL01464:Xpo1	APN	11	23267703	missense	probably damaging	0.97
IGL01561:Xpo1	APN	11	23282706	missense	possibly damaging	0.76
IGL01630:Xpo1	APN	11	23285846	missense	probably benign	0.00
IGL02000:Xpo1	APN	11	23296003	missense	probably damaging	1.00
IGL02299:Xpo1	APN	11	23293915	splice site	probably benign
IGL02313:Xpo1	APN	11	23277065	missense	probably damaging	1.00
IGL02828:Xpo1	APN	11	23282593	missense	probably damaging	0.97
IGL03210:Xpo1	APN	11	23278834	missense	probably benign	0.01
IGL03329:Xpo1	APN	11	23284306	missense	probably benign
PIT1430001:Xpo1	UTSW	11	23276437	missense	possibly damaging	0.66
R0507:Xpo1	UTSW	11	23294682	missense	possibly damaging	0.61
R0594:Xpo1	UTSW	11	23280402	missense	probably damaging	1.00
R0706:Xpo1	UTSW	11	23280441	missense	probably benign	0.09
R0742:Xpo1	UTSW	11	23294682	missense	possibly damaging	0.61
R1385:Xpo1	UTSW	11	23261863	missense	probably damaging	0.96
R1478:Xpo1	UTSW	11	23291623	missense	probably damaging	0.99
R1483:Xpo1	UTSW	11	23284863	missense	probably benign	0.04
R1694:Xpo1	UTSW	11	23281399	missense	probably benign	0.12
R1775:Xpo1	UTSW	11	23271193	missense	probably benign
R1827:Xpo1	UTSW	11	23285155	missense	probably benign	0.00
R2262:Xpo1	UTSW	11	23284634	splice site	probably null
R2263:Xpo1	UTSW	11	23284634	splice site	probably null
R4510:Xpo1	UTSW	11	23287401	missense	possibly damaging	0.60
R4511:Xpo1	UTSW	11	23287401	missense	possibly damaging	0.60
R4840:Xpo1	UTSW	11	23278183	missense	probably damaging	1.00
R4901:Xpo1	UTSW	11	23281327	missense	possibly damaging	0.62
R5176:Xpo1	UTSW	11	23295977	missense	probably damaging	0.99
R5508:Xpo1	UTSW	11	23294645	missense	probably benign
R5927:Xpo1	UTSW	11	23268653	unclassified	probably benign
R5927:Xpo1	UTSW	11	23268656	unclassified	probably benign
R6110:Xpo1	UTSW	11	23287434	missense	probably damaging	0.99
R6421:Xpo1	UTSW	11	23291490	missense	possibly damaging	0.60
R6591:Xpo1	UTSW	11	23286875	missense	probably damaging	1.00
R6691:Xpo1	UTSW	11	23286875	missense	probably damaging	1.00
R6698:Xpo1	UTSW	11	23294040	missense	probably benign	0.01
R6958:Xpo1	UTSW	11	23285855	missense	probably benign
R7407:Xpo1	UTSW	11	23285823	missense	probably damaging	1.00
R7482:Xpo1	UTSW	11	23282544	missense	probably benign	0.00
R7624:Xpo1	UTSW	11	23282584	missense	probably damaging	0.99
R8335:Xpo1	UTSW	11	23280603	splice site	probably null
R8823:Xpo1	UTSW	11	23267752	missense	probably benign
R9128:Xpo1	UTSW	11	23285058	missense	probably damaging	1.00
R9232:Xpo1	UTSW	11	23282646	missense	probably benign
R9277:Xpo1	UTSW	11	23291550	missense	probably benign	0.17
Z1176:Xpo1	UTSW	11	23296080	missense	probably damaging	0.99

Posted On

2014-01-21