Mutagenetix > Incidental Mutations

Incidental Mutation 'R7407:Xpo1'

574802

Institutional Source

Beutler Lab

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23285823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 637 (V637E)

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: V637E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: V637E

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: V637E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: V637E

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: V637E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: V637E

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: V637E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: V637E

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: 99.0%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,599,878	N220S	probably damaging	Het
Abcb8	T	C	5: 24,400,676	V186A	probably benign	Het
Actbl2	A	T	13: 111,256,218	E362D	probably damaging	Het
Adamts17	C	A	7: 67,047,556	Y28*	probably null	Het
Agtr1b	T	C	3: 20,315,731	D237G	possibly damaging	Het
Amer2	A	G	14: 60,378,842	D162G	probably damaging	Het
Ankub1	T	C	3: 57,665,203	E366G	probably benign	Het
Ap5z1	A	G	5: 142,466,575	I88V	probably benign	Het
BC053393	A	G	11: 46,577,390	Y97C	probably damaging	Het
Ccdc186	T	C	19: 56,813,385	N100S	probably benign	Het
Cldn19	A	G	4: 119,255,685	D38G	probably damaging	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Deaf1	G	A	7: 141,297,579	A545V	possibly damaging	Het
Dicer1	G	T	12: 104,722,351	Y322*	probably null	Het
Dnajb7	G	T	15: 81,407,626	T170K	possibly damaging	Het
Flrt2	A	T	12: 95,779,300	E137D	probably damaging	Het
Galnt12	T	C	4: 47,120,362	F482L	probably damaging	Het
Gm14025	A	G	2: 129,038,809	I399T		Het
Gm32742	A	G	9: 51,156,674	V336A	probably damaging	Het
Gpatch8	G	A	11: 102,479,830	R961W	unknown	Het
Hcn4	A	G	9: 58,859,370	E738G	unknown	Het
Kdelr3	A	G	15: 79,524,838	Y76C	probably damaging	Het
Krt77	T	C	15: 101,860,095	S494G	unknown	Het
Letmd1	G	T	15: 100,469,238	A39S	probably benign	Het
Lrrc7	G	A	3: 158,135,241	R1387W	probably damaging	Het
Meltf	T	C	16: 31,894,735	Y599H	probably damaging	Het
Mybpc1	T	A	10: 88,549,347	I477L	probably damaging	Het
Nf1	A	G	11: 79,448,143	D1174G	probably damaging	Het
Olfr720	T	A	14: 14,175,402	I227L	probably benign	Het
Olfr907	T	A	9: 38,499,504	Y278*	probably null	Het
Palld	G	T	8: 61,515,941	S1283*	probably null	Het
Pcmtd2	T	C	2: 181,846,605	V183A	possibly damaging	Het
Pcsk5	T	A	19: 17,675,516	I269F	probably damaging	Het
Pkd1	T	C	17: 24,594,594	L4036P	probably damaging	Het
Pkhd1l1	A	G	15: 44,595,011	N4151S	possibly damaging	Het
Rcor3	C	T	1: 192,101,672	S422N	probably benign	Het
Rhag	A	G	17: 40,831,334	I223V	possibly damaging	Het
Ssbp4	A	G	8: 70,599,022	Y231H	probably damaging	Het
Syce1l	C	T	8: 113,655,138	Q237*	probably null	Het
Tenm4	T	C	7: 96,773,987	V663A	possibly damaging	Het
Trim6	T	C	7: 104,225,901	I115T	probably damaging	Het
Vmn1r25	T	A	6: 57,979,059	T82S	possibly damaging	Het
Vmn2r28	A	G	7: 5,481,309	S631P	probably damaging	Het
Xpo6	A	T	7: 126,171,052	M62K	probably damaging	Het
Ypel5	A	G	17: 72,846,379	N26S	possibly damaging	Het
Zbtb24	C	A	10: 41,464,779	Q624K	possibly damaging	Het
Zfp629	T	C	7: 127,610,243	D798G	probably benign	Het
Zfp687	C	T	3: 95,007,530	R1220H	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGAAGTGTAGTCAGTCTGC -3'
(R):5'- GTGCTAAGACTGAAACTTAAACCTC -3'

Sequencing Primer
(F):5'- CTGGAAGTGTAGTCAGTCTGCATAAC -3'
(R):5'- ACTTTGGTAGCCTGCTGA -3'

Posted On

2019-10-07