Mutagenetix > Incidental Mutations

Incidental Mutation 'R1483:Xpo1'

165716

Institutional Source

Beutler Lab

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

MMRRC Submission

039536-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23284863 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 540 (I540V)

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: I540V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: I540V

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: I540V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: I540V

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: I540V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: I540V

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: I540V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: I540V

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
AA Change: I46V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290
AA Change: I46V

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,903	S368T	probably damaging	Het
9930021J03Rik	G	A	19: 29,719,345	P916L	possibly damaging	Het
Adam12	T	A	7: 133,930,025	T494S	probably benign	Het
Akap6	C	T	12: 52,796,087	P73S	probably damaging	Het
Amotl2	A	T	9: 102,730,897	T763S	probably benign	Het
C87499	T	A	4: 88,628,834	Q116L	probably damaging	Het
Cdc5l	A	T	17: 45,408,364	V541D	possibly damaging	Het
Chl1	A	G	6: 103,647,287	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,954,770	E255G	probably benign	Het
Ddhd2	A	G	8: 25,753,128	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Drc3	A	G	11: 60,388,889	I427V	probably benign	Het
Drg2	T	C	11: 60,459,527	I104T	probably damaging	Het
Dst	C	T	1: 34,252,998	A932V	probably damaging	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Eif3a	A	T	19: 60,768,726	D880E	unknown	Het
Elf1	T	A	14: 79,580,638	D569E	probably benign	Het
Esp6	T	A	17: 40,562,925	M1K	probably null	Het
Fer1l6	T	C	15: 58,637,970	V1427A	possibly damaging	Het
Gm17689	G	A	9: 36,581,324	S95L	probably benign	Het
Gsta1	A	T	9: 78,242,493	K196M	probably damaging	Het
Gzme	T	A	14: 56,118,712	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,135,750	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,121,146	S2T	probably benign	Het
Hadhb	A	G	5: 30,169,494		probably null	Het
Hoxa11	G	T	6: 52,243,456	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,594,641	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,165,236	V88A	possibly damaging	Het
Knop1	C	T	7: 118,853,050	A149T	probably damaging	Het
Macf1	T	A	4: 123,510,977	K597I	probably damaging	Het
Med16	A	T	10: 79,903,100	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937	I98K	probably damaging	Het
Mst1	G	T	9: 108,081,650	G127V	probably benign	Het
Nacad	A	G	11: 6,602,217	S325P	probably damaging	Het
Nbea	G	A	3: 56,002,790	P1328L	probably benign	Het
Nek5	C	T	8: 22,096,790	S335N	probably benign	Het
Nif3l1	C	A	1: 58,447,726	R24S	probably benign	Het
Nlrp14	T	G	7: 107,190,122	N39K	possibly damaging	Het
Nup50	T	A	15: 84,939,727	V427D	probably damaging	Het
Nwd1	C	T	8: 72,657,086	P78L	probably damaging	Het
Olfr1431	T	A	19: 12,209,750	Y61*	probably null	Het
Pnkd	A	G	1: 74,349,391	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,203,121	D423G	probably benign	Het
Prkci	A	T	3: 31,043,792	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,235,964	V494M	possibly damaging	Het
Rapgef4	T	G	2: 72,055,026		probably null	Het
Rbak	T	C	5: 143,174,344	E318G	probably damaging	Het
Rora	A	G	9: 69,364,385	D215G	probably benign	Het
Rp1l1	C	T	14: 64,029,047	T694I	possibly damaging	Het
Scrib	A	G	15: 76,057,922	L1032P	probably damaging	Het
Sectm1b	G	A	11: 121,055,826	T81M	probably benign	Het
Sgk3	T	C	1: 9,872,293	F97L	possibly damaging	Het
Socs3	A	T	11: 117,967,568	Y221*	probably null	Het
Tdrd6	T	A	17: 43,627,607	H850L	probably benign	Het
Tex44	G	T	1: 86,427,186	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 116,109,557	S426A	probably benign	Het
Tmem39b	T	C	4: 129,676,663	Y461C	probably damaging	Het
Ttn	T	A	2: 76,724,993	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,825,707		probably null	Het
Vmn2r70	T	C	7: 85,559,167	I701V	probably benign	Het
Vps39	A	T	2: 120,323,648	L622Q	probably damaging	Het
Wdfy4	T	A	14: 33,100,966	H1347L	probably benign	Het
Xylt2	A	C	11: 94,669,567	M294R	probably benign	Het
Zfp788	T	G	7: 41,649,075	Y326*	probably null	Het
Zim1	A	G	7: 6,682,125	F109L	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCAGTGGCGCAATGCATGAAG -3'
(R):5'- ATCCTGGACTCCATCATGGGTCTC -3'

Sequencing Primer
(F):5'- CGCAATGCATGAAGAGGATG -3'
(R):5'- TCCATCATGGGTCTCTAACAAG -3'

Posted On

2014-03-28