Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Xpo1'

204345

Institutional Source

Beutler Lab

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23271193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 97 (N97D)

Ref Sequence

ENSEMBL: ENSMUSP00000105178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020538] [ENSMUST00000102869] [ENSMUST00000102870] [ENSMUST00000109551] [ENSMUST00000136235]

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: N97D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: N97D

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: N97D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: N97D

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: N97D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: N97D

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: N97D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: N97D

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: ENSMUST00000136235

SMART Domains

Protein: ENSMUSP00000123634
Gene: ENSMUSG00000020290

Domain	Start	End	E-Value	Type
PDB:4BSN\|A	1	59	4e-35	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149371

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558		probably null	Het
4933427I04Rik	A	G	4: 123,860,493	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743	T771A	probably benign	Het
Atp12a	T	C	14: 56,372,589	V182A	probably benign	Het
Birc6	T	C	17: 74,612,286	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304		probably benign	Het
Cep290	T	A	10: 100,496,810	V257E	probably damaging	Het
Cntrob	T	C	11: 69,320,867	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704		probably null	Het
Evpl	T	C	11: 116,223,660	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191		probably benign	Het
Hgfac	T	C	5: 35,042,850		probably benign	Het
Hspg2	C	T	4: 137,520,156	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355	D78N	possibly damaging	Het
Iqca	C	A	1: 90,081,416	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941	P23L	unknown	Het
Lct	A	G	1: 128,300,301	F1152L	probably damaging	Het
Mxra8	T	C	4: 155,843,074	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962	V187A	probably benign	Het
Net1	A	G	13: 3,887,642	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937	S1063A	probably benign	Het
Olfr1036	G	A	2: 86,074,760	V7I	possibly damaging	Het
Olfr1333	T	A	4: 118,829,868	M191L	probably benign	Het
Olfr1447	C	A	19: 12,901,235	V182F	probably benign	Het
Olfr215	T	C	6: 116,582,964		probably benign	Het
Olfr657	G	A	7: 104,636,159	V162I	probably benign	Het
Olfr747	G	T	14: 50,681,166	P156Q	possibly damaging	Het
Pdzd2	G	A	15: 12,592,460	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348		probably null	Het
Rexo5	T	C	7: 119,845,411	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278	S30P	probably benign	Het
Rrnad1	A	G	3: 87,923,817	S404P	probably damaging	Het
Rxra	C	A	2: 27,756,244	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242		probably null	Het
Sema5b	A	G	16: 35,660,324	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107		probably null	Het
Slc9a8	T	C	2: 167,457,358	S217P	probably benign	Het
Smc6	A	G	12: 11,309,269	N965D	probably benign	Het
Sod2	T	A	17: 13,015,032	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600	I237K	probably damaging	Het
Sulf2	T	C	2: 166,079,612	K697R	probably benign	Het
Svs4	A	T	2: 164,277,085	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456		probably benign	Het
Trim15	T	A	17: 36,865,169	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340		probably benign	Het
Xpo4	A	T	14: 57,603,672	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704	C83F	probably damaging	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
PIT1430001:Xpo1	UTSW	11	23,276,437 (GRCm38)	missense	possibly damaging	0.66
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
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

PCR Primer
(F):5'- GAACTCTCAGCTTAGGGGTG -3'
(R):5'- AATCATACTGCCTCCATTCAGAG -3'

Sequencing Primer
(F):5'- CAGCTTAGGGGTGAATAGATCC -3'
(R):5'- AAGTGGAGGTTGCCTCTT -3'

Posted On

2014-06-23