Mutagenetix > Incidental Mutations

Incidental Mutation 'R4901:Xpo1'

376173

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 #

R4901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23281327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 304 (I304F)

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

possibly damaging
Transcript: ENSMUST00000020538
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: I304F

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

possibly damaging
Transcript: ENSMUST00000102869
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: I304F

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

possibly damaging
Transcript: ENSMUST00000102870
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: I304F

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

possibly damaging
Transcript: ENSMUST00000109551
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: I304F

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

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,277,657		probably null	Het
Arg2	T	C	12: 79,147,711	V103A	probably damaging	Het
Bicra	T	A	7: 15,987,601	T664S	possibly damaging	Het
Bptf	A	T	11: 107,110,860	Y475*	probably null	Het
Calcrl	T	C	2: 84,333,513	I445V	probably benign	Het
Ccdc110	G	A	8: 45,943,400	R776Q	probably benign	Het
Ccnc	A	G	4: 21,727,894	N4S	probably damaging	Het
Ccni	G	A	5: 93,183,144	R323W	probably damaging	Het
Celsr2	T	A	3: 108,406,987	M1241L	possibly damaging	Het
Cpd	T	C	11: 76,790,881	I1145M	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2j8	T	A	4: 96,479,086	D265V	probably benign	Het
Dennd2a	T	C	6: 39,522,687	T315A	probably benign	Het
Dgkz	T	A	2: 91,936,731	Q905L	probably benign	Het
Dnah8	G	A	17: 30,840,714		probably null	Het
Elp2	A	G	18: 24,619,485	H365R	probably damaging	Het
Gm12166	A	G	11: 46,051,829	S156P	probably damaging	Het
Gm136	G	A	4: 34,746,580	Q144*	probably null	Het
Gm5415	T	C	1: 32,546,620	S70G	probably benign	Het
Gon4l	T	C	3: 88,908,151	V2008A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Isyna1	A	T	8: 70,596,596	H414L	probably damaging	Het
Kif20b	A	G	19: 34,934,436	Y233C	probably benign	Het
Klk1	A	T	7: 44,228,715	I132F	probably damaging	Het
Klre1	A	T	6: 129,584,225	H183L	probably benign	Het
Lrp1b	T	C	2: 40,821,645	T3188A	probably damaging	Het
Mapk12	A	T	15: 89,134,638	L198*	probably null	Het
Mt4	A	C	8: 94,138,284	T29P	possibly damaging	Het
Myh14	C	T	7: 44,661,040	V140I	probably damaging	Het
Nr1h4	T	C	10: 89,478,797	Q269R	possibly damaging	Het
Olfr1198	C	G	2: 88,746,887		probably null	Het
Olfr558	A	G	7: 102,710,198	H313R	probably benign	Het
Pde1b	A	G	15: 103,526,685	I421V	probably null	Het
Pde3b	A	T	7: 114,508,190	T519S	probably damaging	Het
Phf21a	T	A	2: 92,357,001	C178*	probably null	Het
Phtf2	A	G	5: 20,805,724	S88P	possibly damaging	Het
Pik3c3	A	G	18: 30,302,929	M394V	possibly damaging	Het
Plxnb1	C	T	9: 109,104,959	P752S	probably benign	Het
Pp2d1	C	A	17: 53,515,009	G343V	probably benign	Het
Ppp6r2	A	G	15: 89,259,069	I140V	possibly damaging	Het
Ppp6r3	C	A	19: 3,467,229	V75L	probably damaging	Het
Ptprq	T	A	10: 107,688,414	H486L	probably benign	Het
Rasgrf1	C	T	9: 89,995,003	T807M	probably benign	Het
Rasgrp3	C	A	17: 75,514,116	Y439*	probably null	Het
Rbm44	A	G	1: 91,153,328	T413A	probably benign	Het
Rnf135	T	C	11: 80,198,836	C333R	probably damaging	Het
Scfd2	A	G	5: 74,519,565	V309A	probably damaging	Het
Serpina3m	A	T	12: 104,389,649	K192*	probably null	Het
Sh3tc2	A	G	18: 61,990,435	I756V	probably benign	Het
Slc27a4	T	C	2: 29,812,636	V516A	probably damaging	Het
Sult2a5	T	A	7: 13,625,263	C55S	probably benign	Het
Tarsl2	C	T	7: 65,691,294	T783M	probably benign	Het
Tet2	A	T	3: 133,467,044	I1819N	possibly damaging	Het
Timeless	T	C	10: 128,250,762	F1057L	probably damaging	Het
Ttn	T	A	2: 76,798,074	I12835F	probably damaging	Het
Uhrf1	T	A	17: 56,310,834	D185E	probably benign	Het
Vmn2r74	G	T	7: 85,955,991	S483*	probably null	Het
Zc3h11a	A	G	1: 133,624,711	S553P	probably benign	Het
Zdhhc1	A	G	8: 105,472,852	S402P	probably benign	Het
Zwilch	T	C	9: 64,162,746	Y101C	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
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

Predicted Primers

PCR Primer
(F):5'- GATTCATCTGAATGCACTGCTAGTG -3'
(R):5'- ACAGGCTCATATCCAAGAGC -3'

Sequencing Primer
(F):5'- CACTGCTAGTGTTGTTGTTGCCTTC -3'
(R):5'- GAAGTTGACCGTGCTCTT -3'

Posted On

2016-03-17