Mutagenetix > Incidental Mutations

Incidental Mutation 'R9277:Xpo1'

703383

Institutional Source

Beutler Lab

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23291550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 866 (I866V)

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
AA Change: I866V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: I866V

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
AA Change: I866V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: I866V

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
AA Change: I866V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: I866V

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
AA Change: I866V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: I866V

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: 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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,521	Y237C	probably damaging	Het
Adam12	T	C	7: 133,919,832	S566G	probably benign	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Apob	A	T	12: 8,011,183	I3222F	probably benign	Het
Cdyl	A	G	13: 35,858,239	D420G	probably benign	Het
Cela1	C	A	15: 100,683,013	A121S	possibly damaging	Het
Clip2	A	G	5: 134,500,109	M822T	probably benign	Het
Coq8a	G	A	1: 180,179,211	T84I	probably benign	Het
Dars2	G	A	1: 161,049,957	A390V	probably benign	Het
Dhx40	C	T	11: 86,770,230	M744I	probably benign	Het
Dnajc14	A	G	10: 128,806,820	I204V	probably benign	Het
Eftud2	A	C	11: 102,860,029	F322V	probably damaging	Het
Eif4g2	G	A	7: 111,074,859	A646V	probably damaging	Het
Faim2	T	C	15: 99,521,216	T91A	probably benign	Het
Fam160a1	C	A	3: 85,672,258	R880L	probably benign	Het
Fancl	A	T	11: 26,468,847	I290F	possibly damaging	Het
Fermt3	A	T	19: 7,013,877	Y253N	possibly damaging	Het
Frem3	T	A	8: 80,690,773	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,779,910	V90E	probably damaging	Het
Gm3147	T	C	5: 94,614,984	T60A	probably benign	Het
Gm6509	A	G	5: 94,624,058	T16A	probably benign	Het
Golga1	T	C	2: 39,024,243	E488G	probably benign	Het
Gpatch11	T	A	17: 78,841,017	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,699,195	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,959,782	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,461,156	L505P	probably damaging	Het
Klrg2	A	G	6: 38,636,556	S171P	probably benign	Het
Lamtor5	A	G	3: 107,279,088	T58A	probably benign	Het
Lgr6	G	T	1: 134,987,479	C787*	probably null	Het
Madd	A	G	2: 91,175,710	F380S	probably damaging	Het
Magi1	A	T	6: 93,943,253	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,620,576	E362G		Het
Mfsd7a	G	T	5: 108,441,998	P513T	probably benign	Het
Morc2b	C	T	17: 33,136,023	G925D	probably benign	Het
Nalcn	C	T	14: 123,281,111	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,313,197	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,757,952	E97D	probably damaging	Het
Parn	C	T	16: 13,664,655		probably null	Het
Pip4k2b	A	T	11: 97,722,446	N241K	probably damaging	Het
Pkn2	A	G	3: 142,810,748	V539A	probably benign	Het
Plpp7	A	T	2: 32,095,812	M1L	probably damaging	Het
Prtg	G	A	9: 72,809,647	S90N	probably benign	Het
Rgs7bp	G	A	13: 104,964,110	T219M	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scgb1b20	G	A	7: 33,373,573	D69N	probably benign	Het
Setd2	A	G	9: 110,550,551	T1145A	probably damaging	Het
Tmem145	A	G	7: 25,309,740	Q359R	probably benign	Het
Trmt5	C	A	12: 73,282,674	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,577,965	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,405,337	I292F	unknown	Het
Vmn2r66	T	C	7: 85,011,956	D22G	probably benign	Het
Vwa3b	T	A	1: 37,157,453		probably null	Het
Wbp4	T	A	14: 79,476,913	D53V	probably benign	Het
Zan	G	A	5: 137,463,992	P975L	unknown	Het
Zdhhc19	G	A	16: 32,497,694	R89Q	probably benign	Het
Zer1	G	A	2: 30,111,285	T69I	probably benign	Het
Zfp827	C	T	8: 79,060,400	T65I	probably damaging	Het
Zswim9	A	G	7: 13,261,057	F391S	probably 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
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
Z1176:Xpo1	UTSW	11	23296080	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTAAAATTTGGGCTTTCCTTTGG -3'
(R):5'- ACCAGATGCTAGAATGGCTCC -3'

Sequencing Primer
(F):5'- CCTTTGGGGGAAACTTTGAAG -3'
(R):5'- TCCCTGAAAACTAGATGCTCATG -3'

Posted On

2022-03-25