Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02828:Xpo1'

361307

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 #

IGL02828

Quality Score

Status

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23282593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 371 (E371G)

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 damaging
Transcript: ENSMUST00000020538
AA Change: E371G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: E371G

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 damaging
Transcript: ENSMUST00000102869
AA Change: E371G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: E371G

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 damaging
Transcript: ENSMUST00000102870
AA Change: E371G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: E371G

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 damaging
Transcript: ENSMUST00000109551
AA Change: E371G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: E371G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150750

SMART Domains

Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290

Domain	Start	End	E-Value	Type
Blast:CRM1_C	97	136	3e-8	BLAST
Pfam:CRM1_C	171	233	4.3e-22	PFAM

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	C	A	18: 12,189,221	A577D	possibly damaging	Het
Abca8b	G	A	11: 109,980,894	T86I	probably damaging	Het
Adam28	C	T	14: 68,646,870	S93N	possibly damaging	Het
Adamts6	T	C	13: 104,297,470	Y136H	probably damaging	Het
Ahdc1	A	T	4: 133,062,921	K491I	possibly damaging	Het
AI314180	A	G	4: 58,875,512	S151P	possibly damaging	Het
Alb	C	A	5: 90,467,388	A253E	probably benign	Het
Asb18	A	G	1: 89,996,210		probably null	Het
Asxl3	T	A	18: 22,524,661	N1909K	possibly damaging	Het
Atp12a	T	A	14: 56,376,142	V457D	possibly damaging	Het
Atxn7	G	T	14: 14,090,056	G334W	probably damaging	Het
Catsperb	T	A	12: 101,480,782	I223K	probably benign	Het
Clec2h	T	A	6: 128,675,922	H217Q	probably benign	Het
Col6a3	T	C	1: 90,796,559	E1416G	probably damaging	Het
Dcaf1	T	A	9: 106,844,302		probably benign	Het
Ddr2	C	T	1: 169,988,513	A542T	probably benign	Het
Ebf3	T	C	7: 137,307,518	N174S	probably damaging	Het
Ephb2	A	G	4: 136,771,150	I206T	probably benign	Het
Fam214a	G	T	9: 75,006,432	A123S	probably damaging	Het
Fbxo39	T	A	11: 72,317,215	I131N	possibly damaging	Het
Fdxacb1	G	A	9: 50,771,564	V276I	possibly damaging	Het
Gm13023	A	T	4: 143,795,125	D437V	possibly damaging	Het
Gpr146	A	T	5: 139,392,821	Y126F	probably damaging	Het
Hivep3	A	T	4: 120,097,732	K1082*	probably null	Het
Ifnar1	T	A	16: 91,505,416		probably null	Het
Kap	A	G	6: 133,852,094	V25A	probably benign	Het
Klhl2	C	A	8: 64,779,757	R162L	probably damaging	Het
Kmt2a	A	G	9: 44,821,947		probably benign	Het
Lrp4	A	G	2: 91,475,294	N303S	probably benign	Het
Mtpap	A	T	18: 4,386,207	N276Y	probably damaging	Het
Nlrp5	G	A	7: 23,421,460	G684S	possibly damaging	Het
Olfr1513	T	C	14: 52,349,342	R235G	probably benign	Het
Olfr294	A	T	7: 86,616,069	V192E	possibly damaging	Het
Pak2	A	T	16: 32,021,856	L469H	probably damaging	Het
Pcdhb15	T	A	18: 37,473,850	L45Q	probably damaging	Het
Pi4ka	A	T	16: 17,280,711		probably benign	Het
Picalm	A	G	7: 90,177,501	T386A	probably benign	Het
Pkd1l2	T	C	8: 117,029,559	T1645A	probably benign	Het
Plekhm2	A	T	4: 141,629,630	V754E	probably damaging	Het
Rbl1	T	A	2: 157,199,464	E81V	probably damaging	Het
Rbp4	C	A	19: 38,118,269		probably null	Het
Rdh12	T	C	12: 79,218,685	V211A	probably damaging	Het
Ret	G	A	6: 118,176,207	A500V	probably benign	Het
Rin1	T	C	19: 5,053,090	F469S	possibly damaging	Het
Rsc1a1	G	T	4: 141,684,168	P478T	probably damaging	Het
Setd2	A	T	9: 110,561,214	Y1579F	probably benign	Het
Sh3bp5	A	T	14: 31,434,149		probably benign	Het
Slc22a13	G	T	9: 119,195,707	L235I	probably benign	Het
Slc6a11	A	T	6: 114,134,987	T172S	possibly damaging	Het
Slitrk1	G	T	14: 108,911,616	S554R	possibly damaging	Het
Tg	G	A	15: 66,682,394	G553S	probably damaging	Het
Tmem26	G	A	10: 68,775,385		probably null	Het
Trpm2	A	T	10: 77,918,986	L1222Q	probably benign	Het
Vdac2	T	C	14: 21,843,889	V249A	probably benign	Het
Vmn1r170	T	C	7: 23,606,518	V115A	probably damaging	Het
Vmn2r105	A	G	17: 20,209,083	V577A	possibly damaging	Het
Zfp106	A	C	2: 120,531,697	H980Q	possibly damaging	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
IGL01700:Xpo1	APN	11	23276422	splice site	probably benign
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
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

2015-12-18