Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT1430001:Xpo1'

499896

Institutional Source

Beutler Lab

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT1430001 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23276437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 104 (K104N)

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: K104N

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: K104N

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: K104N

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: K104N

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: K104N

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: K104N

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: K104N

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: K104N

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

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (136/137)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	A	13: 58,385,013 (GRCm38)	K48*	probably null	Het
2700049A03Rik	A	T	12: 71,160,386 (GRCm38)	I524F	possibly damaging	Het
4930511M06Rik	T	C	18: 57,384,169 (GRCm38)		probably benign	Het
9330159F19Rik	T	A	10: 29,224,715 (GRCm38)	N361K	probably damaging	Het
Akap9	A	G	5: 4,029,849 (GRCm38)	D1867G	probably damaging	Het
Ankrd17	T	C	5: 90,252,973 (GRCm38)	T1687A	possibly damaging	Het
Ap1m2	G	A	9: 21,298,252 (GRCm38)	P376L	probably damaging	Het
Bicc1	A	G	10: 70,957,681 (GRCm38)	S196P	possibly damaging	Het
Cacnb2	C	T	2: 14,971,601 (GRCm38)	R228*	probably null	Het
Ccdc43	A	G	11: 102,692,150 (GRCm38)	S83P	probably damaging	Het
Ccdc94	C	T	17: 55,964,479 (GRCm38)		probably benign	Het
Cdc42bpg	T	A	19: 6,322,552 (GRCm38)		probably null	Het
Cdh16	C	A	8: 104,617,639 (GRCm38)	M89I	probably benign	Het
Cecr2	A	C	6: 120,758,479 (GRCm38)	H892P	probably benign	Het
Chd5	T	A	4: 152,370,637 (GRCm38)	S859T	probably damaging	Het
Chrd	G	A	16: 20,738,998 (GRCm38)		probably null	Het
Chrna2	T	A	14: 66,149,737 (GRCm38)	L444Q	probably benign	Het
Ckap4	A	G	10: 84,527,766 (GRCm38)	S478P	probably damaging	Het
Cldn4	A	T	5: 134,946,660 (GRCm38)	M29K	possibly damaging	Het
Clpb	T	C	7: 101,786,719 (GRCm38)	V615A	possibly damaging	Het
Cyb5r4	G	A	9: 87,038,738 (GRCm38)	G142E	probably benign	Het
Cyp1a1	A	G	9: 57,700,911 (GRCm38)	Y274C	probably benign	Het
D2hgdh	T	C	1: 93,826,279 (GRCm38)		probably benign	Het
Dgkh	T	A	14: 78,581,513 (GRCm38)	E919V	probably damaging	Het
Dnah1	A	G	14: 31,262,580 (GRCm38)	Y3916H	probably damaging	Het
Dpp10	A	G	1: 123,341,182 (GRCm38)		probably benign	Het
Egfr	A	G	11: 16,910,214 (GRCm38)	T1043A	probably benign	Het
Elp5	T	G	11: 69,967,109 (GRCm38)		probably null	Het
Emilin3	A	T	2: 160,908,482 (GRCm38)	M449K	possibly damaging	Het
Epb41l4a	T	G	18: 33,797,347 (GRCm38)	T686P	probably damaging	Het
Eppk1	A	G	15: 76,105,236 (GRCm38)	C2482R	probably benign	Het
Eps8l3	T	C	3: 107,884,867 (GRCm38)	L370P	probably damaging	Het
Erbin	A	T	13: 103,859,509 (GRCm38)	S228R	probably damaging	Het
Fam149a	C	T	8: 45,351,706 (GRCm38)	E280K	probably benign	Het
Fam78b	T	C	1: 167,001,744 (GRCm38)	I60T	probably benign	Het
Fank1	A	T	7: 133,876,800 (GRCm38)	R197*	probably null	Het
Fbxo21	C	T	5: 117,977,866 (GRCm38)	S83F	possibly damaging	Het
Fbxo4	G	C	15: 3,979,300 (GRCm38)	T42R	probably benign	Het
Fhad1	C	G	4: 141,909,749 (GRCm38)	E1135D	probably damaging	Het
Fmo1	T	A	1: 162,830,053 (GRCm38)	E506D	probably benign	Het
Glipr1l2	A	T	10: 112,106,840 (GRCm38)	T231S	probably benign	Het
Gm11651	C	G	11: 105,973,091 (GRCm38)		probably benign	Het
Gm16043	A	G	6: 8,426,969 (GRCm38)		probably null	Het
Gm5615	A	T	9: 36,534,999 (GRCm38)	L39*	probably null	Het
Gm572	T	G	4: 148,671,393 (GRCm38)	W389G	unknown	Het
Gpc6	G	A	14: 117,951,182 (GRCm38)	W409*	probably null	Het
Gpr124	A	G	8: 27,114,188 (GRCm38)	M469V	possibly damaging	Het
Gpr155	T	C	2: 73,370,138 (GRCm38)	T342A	probably benign	Het
Hcn4	A	C	9: 58,859,550 (GRCm38)	H798P	unknown	Het
Herc2	T	C	7: 56,226,954 (GRCm38)	S4513P	probably damaging	Het
Hmcn1	G	A	1: 150,808,737 (GRCm38)	R361C	probably benign	Het
Hoxa4	G	T	6: 52,191,219 (GRCm38)	P157Q	possibly damaging	Het
Ift122	A	C	6: 115,925,744 (GRCm38)		probably benign	Het
Igfbpl1	G	A	4: 45,826,756 (GRCm38)	S13L	unknown	Het
Igsf10	T	C	3: 59,328,158 (GRCm38)	D1534G	probably benign	Het
Il1rap	T	G	16: 26,710,593 (GRCm38)	L339V	possibly damaging	Het
Irf2bpl	C	T	12: 86,883,455 (GRCm38)	R148H	possibly damaging	Het
Ivns1abp	A	T	1: 151,361,605 (GRCm38)	R58W	probably damaging	Het
Kcnq5	C	T	1: 21,535,181 (GRCm38)	V167M	probably damaging	Het
Lrrcc1	G	A	3: 14,545,596 (GRCm38)	C337Y	probably damaging	Het
Lrriq3	A	G	3: 155,098,870 (GRCm38)	I56V	probably benign	Het
Marc1	T	G	1: 184,807,049 (GRCm38)	T37P	probably benign	Het
Masp1	C	A	16: 23,513,944 (GRCm38)	S47I	probably damaging	Het
Mcm7	A	T	5: 138,167,446 (GRCm38)		probably benign	Het
Mdm2	G	T	10: 117,694,935 (GRCm38)	S210R	probably damaging	Het
Mical1	A	G	10: 41,483,496 (GRCm38)	R500G	possibly damaging	Het
Myc	A	C	15: 61,987,693 (GRCm38)	T73P	probably damaging	Het
Myh15	G	A	16: 49,196,891 (GRCm38)		probably null	Het
Myh4	A	G	11: 67,258,832 (GRCm38)	M1768V	probably benign	Het
Nap1l1	T	C	10: 111,486,736 (GRCm38)	Y66H	probably damaging	Het
Ncoa1	C	T	12: 4,323,005 (GRCm38)	R132K	probably benign	Het
Nfatc3	C	T	8: 106,059,973 (GRCm38)	S28F	possibly damaging	Het
Nhlrc3	T	A	3: 53,453,629 (GRCm38)	K235M	probably damaging	Het
Nrk	G	A	X: 138,978,714 (GRCm38)	E757K	probably damaging	Het
Obsl1	G	A	1: 75,506,167 (GRCm38)	P20S	probably damaging	Het
P2rx7	C	T	5: 122,681,216 (GRCm38)	A567V	probably damaging	Het
Pcdhb15	G	A	18: 37,475,671 (GRCm38)	R652H	probably benign	Het
Pcdhga4	T	C	18: 37,686,214 (GRCm38)	V272A	probably benign	Het
Pcdhgb1	T	G	18: 37,681,419 (GRCm38)	V321G	probably damaging	Het
Pde2a	C	G	7: 101,451,477 (GRCm38)		probably benign	Het
Pdhb	C	T	14: 8,170,425 (GRCm38)	E109K	probably damaging	Het
Pkd1	C	A	17: 24,569,511 (GRCm38)	L748M	probably damaging	Het
Pkd2	A	T	5: 104,459,788 (GRCm38)	E51V	probably damaging	Het
Pkdrej	A	G	15: 85,821,292 (GRCm38)	Y148H	probably damaging	Het
Polr3gl	C	G	3: 96,580,912 (GRCm38)		probably benign	Het
Ppfia1	A	T	7: 144,498,336 (GRCm38)	L882Q	probably damaging	Het
Ppp4r3b	G	T	11: 29,209,434 (GRCm38)	R596L	probably benign	Het
Ppp6r3	G	A	19: 3,471,059 (GRCm38)	Q85*	probably null	Het
Prss8	A	G	7: 127,922,252 (GRCm38)		probably benign	Het
Rab22a	A	G	2: 173,695,170 (GRCm38)	I87V	probably benign	Het
Rev1	A	C	1: 38,056,256 (GRCm38)		probably benign	Het
Rnase13	A	G	14: 51,922,530 (GRCm38)	Y51H	probably damaging	Het
Rnf26	T	C	9: 44,112,645 (GRCm38)	H102R	probably damaging	Het
Rnf5	T	C	17: 34,603,367 (GRCm38)	E36G	probably damaging	Het
Rplp1	T	G	9: 61,914,376 (GRCm38)	D18A	probably benign	Het
Rrs1	C	A	1: 9,545,925 (GRCm38)	D134E	probably damaging	Het
Sec14l1	A	G	11: 117,143,803 (GRCm38)	Y166C	probably damaging	Het
Sec14l2	A	T	11: 4,109,209 (GRCm38)	Y153*	probably null	Het
Senp1	A	G	15: 98,084,989 (GRCm38)	L39P	probably damaging	Het
Senp2	T	A	16: 22,014,114 (GRCm38)		probably benign	Het
Sh3bp1	G	A	15: 78,914,024 (GRCm38)	A19T	probably benign	Het
Sis	G	A	3: 72,922,829 (GRCm38)	P1130S	probably damaging	Het
Slc16a12	C	T	19: 34,677,359 (GRCm38)	A95T	possibly damaging	Het
Slc22a4	A	G	11: 54,027,957 (GRCm38)	V7A	probably benign	Het
Slc35c2	C	T	2: 165,277,532 (GRCm38)	S296N	probably benign	Het
Slf1	A	G	13: 77,050,050 (GRCm38)		probably benign	Het
Slitrk6	A	T	14: 110,750,427 (GRCm38)	V616E	possibly damaging	Het
Smarca2	T	A	19: 26,649,093 (GRCm38)	M439K	probably benign	Het
Snx29	G	A	16: 11,403,624 (GRCm38)	A305T	probably benign	Het
Socs5	C	T	17: 87,133,616 (GRCm38)		probably benign	Het
Spata31d1a	G	T	13: 59,701,196 (GRCm38)	H1039Q	probably benign	Het
Srgap1	G	A	10: 121,896,753 (GRCm38)		probably benign	Het
Synj1	A	T	16: 90,964,508 (GRCm38)	I650N	probably damaging	Het
Tac4	A	C	11: 95,267,364 (GRCm38)		probably benign	Het
Tbck	A	C	3: 132,722,726 (GRCm38)	T281P	probably benign	Het
Tbx22	T	C	X: 107,677,005 (GRCm38)	L62P	probably damaging	Het
Terf2	G	C	8: 107,096,302 (GRCm38)	R70G	probably damaging	Het
Tfdp1	C	T	8: 13,372,526 (GRCm38)	P138S	probably benign	Het
Tigd2	T	C	6: 59,211,248 (GRCm38)	Y367H	probably damaging	Het
Tmprss15	A	T	16: 79,024,752 (GRCm38)		probably null	Het
Tmprss6	C	T	15: 78,440,627 (GRCm38)	G741D	probably damaging	Het
Tnrc6b	A	C	15: 80,929,186 (GRCm38)	T1715P	probably damaging	Het
Tpcn1	T	C	5: 120,548,323 (GRCm38)		probably benign	Het
Trappc2l	T	C	8: 122,613,135 (GRCm38)	S35P	probably damaging	Het
Trim63	T	C	4: 134,321,173 (GRCm38)		probably benign	Het
Trim66	G	T	7: 109,475,247 (GRCm38)	D602E	probably damaging	Het
Trp53bp1	G	A	2: 121,271,275 (GRCm38)	P2S	probably damaging	Het
Tspan14	A	G	14: 40,915,531 (GRCm38)	L100P	probably damaging	Het
Tspan15	C	T	10: 62,188,120 (GRCm38)	E260K	probably damaging	Het
Ubxn10	T	C	4: 138,720,888 (GRCm38)	D159G	probably benign	Het
Unc5a	T	G	13: 55,003,896 (GRCm38)	V713G	probably damaging	Het
Usp16	C	T	16: 87,473,132 (GRCm38)	A324V	probably damaging	Het
Uvssa	G	A	5: 33,402,570 (GRCm38)	R422Q	possibly damaging	Het
Wdr34	T	C	2: 30,032,135 (GRCm38)	Y438C	probably damaging	Het
Wipf1	A	C	2: 73,437,602 (GRCm38)	F151V	probably damaging	Het
Ybx3	T	C	6: 131,379,459 (GRCm38)	T150A	probably damaging	Het
Zap70	T	A	1: 36,779,169 (GRCm38)	S312R	possibly damaging	Het
Zfp534	T	G	4: 147,675,423 (GRCm38)	K263T	probably benign	Het
Zfp534	T	G	4: 147,675,460 (GRCm38)	N251H	probably benign	Het

Other mutations in Xpo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Xpo1	APN	11	23,285,094 (GRCm38)	missense	probably damaging	1.00
IGL01464:Xpo1	APN	11	23,267,703 (GRCm38)	missense	probably damaging	0.97
IGL01561:Xpo1	APN	11	23,282,706 (GRCm38)	missense	possibly damaging	0.76
IGL01630:Xpo1	APN	11	23,285,846 (GRCm38)	missense	probably benign	0.00
IGL01700:Xpo1	APN	11	23,276,422 (GRCm38)	splice site	probably benign
IGL02000:Xpo1	APN	11	23,296,003 (GRCm38)	missense	probably damaging	1.00
IGL02299:Xpo1	APN	11	23,293,915 (GRCm38)	splice site	probably benign
IGL02313:Xpo1	APN	11	23,277,065 (GRCm38)	missense	probably damaging	1.00
IGL02828:Xpo1	APN	11	23,282,593 (GRCm38)	missense	probably damaging	0.97
IGL03210:Xpo1	APN	11	23,278,834 (GRCm38)	missense	probably benign	0.01
IGL03329:Xpo1	APN	11	23,284,306 (GRCm38)	missense	probably benign
R0507:Xpo1	UTSW	11	23,294,682 (GRCm38)	missense	possibly damaging	0.61
R0594:Xpo1	UTSW	11	23,280,402 (GRCm38)	missense	probably damaging	1.00
R0706:Xpo1	UTSW	11	23,280,441 (GRCm38)	missense	probably benign	0.09
R0742:Xpo1	UTSW	11	23,294,682 (GRCm38)	missense	possibly damaging	0.61
R1385:Xpo1	UTSW	11	23,261,863 (GRCm38)	missense	probably damaging	0.96
R1478:Xpo1	UTSW	11	23,291,623 (GRCm38)	missense	probably damaging	0.99
R1483:Xpo1	UTSW	11	23,284,863 (GRCm38)	missense	probably benign	0.04
R1694:Xpo1	UTSW	11	23,281,399 (GRCm38)	missense	probably benign	0.12
R1775:Xpo1	UTSW	11	23,271,193 (GRCm38)	missense	probably benign
R1827:Xpo1	UTSW	11	23,285,155 (GRCm38)	missense	probably benign	0.00
R2262:Xpo1	UTSW	11	23,284,634 (GRCm38)	splice site	probably null
R2263:Xpo1	UTSW	11	23,284,634 (GRCm38)	splice site	probably null
R4510:Xpo1	UTSW	11	23,287,401 (GRCm38)	missense	possibly damaging	0.60
R4511:Xpo1	UTSW	11	23,287,401 (GRCm38)	missense	possibly damaging	0.60
R4840:Xpo1	UTSW	11	23,278,183 (GRCm38)	missense	probably damaging	1.00
R4901:Xpo1	UTSW	11	23,281,327 (GRCm38)	missense	possibly damaging	0.62
R5176:Xpo1	UTSW	11	23,295,977 (GRCm38)	missense	probably damaging	0.99
R5508:Xpo1	UTSW	11	23,294,645 (GRCm38)	missense	probably benign
R5927:Xpo1	UTSW	11	23,268,656 (GRCm38)	unclassified	probably benign
R5927:Xpo1	UTSW	11	23,268,653 (GRCm38)	unclassified	probably benign
R6110:Xpo1	UTSW	11	23,287,434 (GRCm38)	missense	probably damaging	0.99
R6421:Xpo1	UTSW	11	23,291,490 (GRCm38)	missense	possibly damaging	0.60
R6591:Xpo1	UTSW	11	23,286,875 (GRCm38)	missense	probably damaging	1.00
R6691:Xpo1	UTSW	11	23,286,875 (GRCm38)	missense	probably damaging	1.00
R6698:Xpo1	UTSW	11	23,294,040 (GRCm38)	missense	probably benign	0.01
R6958:Xpo1	UTSW	11	23,285,855 (GRCm38)	missense	probably benign
R7407:Xpo1	UTSW	11	23,285,823 (GRCm38)	missense	probably damaging	1.00
R7482:Xpo1	UTSW	11	23,282,544 (GRCm38)	missense	probably benign	0.00
R7624:Xpo1	UTSW	11	23,282,584 (GRCm38)	missense	probably damaging	0.99
R8335:Xpo1	UTSW	11	23,280,603 (GRCm38)	splice site	probably null
R8823:Xpo1	UTSW	11	23,267,752 (GRCm38)	missense	probably benign
R9128:Xpo1	UTSW	11	23,285,058 (GRCm38)	missense	probably damaging	1.00
R9232:Xpo1	UTSW	11	23,282,646 (GRCm38)	missense	probably benign
R9277:Xpo1	UTSW	11	23,291,550 (GRCm38)	missense	probably benign	0.17
Z1176:Xpo1	UTSW	11	23,296,080 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-11-21