Mutagenetix > Incidental Mutations

Incidental Mutation 'R8823:Xpo1'

673286

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 #

R8823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23267752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 73 (M73L)

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: M73L

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

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: M73L

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: M73L

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

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: M73L

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: M73L

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

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: M73L

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: M73L

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

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: M73L

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

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (46/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	A	8: 40,680,189	I232K	probably benign	Het
Ap5z1	T	C	5: 142,474,436	L506P	probably benign	Het
Ceacam20	A	T	7: 19,971,504	Y140F	probably damaging	Het
Chfr	G	A	5: 110,152,392	R334H	probably damaging	Het
Emx2	A	G	19: 59,459,448	H78R	probably damaging	Het
Etnppl	G	A	3: 130,626,546	G204R	probably damaging	Het
Fah	A	G	7: 84,605,717	F3L	possibly damaging	Het
Galnt12	G	T	4: 47,091,928		probably benign	Het
Gbx1	A	G	5: 24,505,053	S265P	probably damaging	Het
Gm17087	A	G	17: 8,566,401	*157R	probably null	Het
Gm5426	A	T	10: 96,136,771	I57F	possibly damaging	Het
Grin2a	T	A	16: 9,669,894	N380I	possibly damaging	Het
Grip1	C	T	10: 119,975,951	T269I		Het
Hace1	T	C	10: 45,648,860	Y241H	probably damaging	Het
Hrc	A	G	7: 45,336,298	D291G	possibly damaging	Het
Ifi208	A	G	1: 173,683,536	Y419C	probably damaging	Het
Ighv8-5	A	G	12: 115,067,647	S91P	probably damaging	Het
Igkv15-103	T	C	6: 68,437,871	L98P	probably damaging	Het
Igsf5	C	T	16: 96,421,739	S61L	possibly damaging	Het
Ipo9	A	G	1: 135,419,339	W138R	probably damaging	Het
Kank4	A	T	4: 98,780,003	L69Q	probably damaging	Het
Kcnd3	T	C	3: 105,667,014	I505T	probably benign	Het
Lrtm2	T	A	6: 119,317,232	I313F	probably damaging	Het
Mug2	A	T	6: 122,063,689	I733F	possibly damaging	Het
Myh2	A	T	11: 67,185,474	R800S	probably damaging	Het
Myo1d	A	T	11: 80,601,745	I728N	possibly damaging	Het
Olfr519	A	G	7: 108,893,948	I158T	probably benign	Het
Pdcd1	T	C	1: 94,041,495	R33G	probably benign	Het
Polr1b	T	C	2: 129,125,537	F950S	probably damaging	Het
Prpf8	T	A	11: 75,493,456	M697K	probably benign	Het
Psmc2	T	A	5: 21,800,576	D218E	probably damaging	Het
Ptpn12	A	G	5: 20,998,623	Y386H	probably damaging	Het
Rilpl2	C	T	5: 124,468,653	R166K	possibly damaging	Het
Rtn4	T	A	11: 29,706,609	N254K	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sesn3	T	A	9: 14,310,240		probably benign	Het
Slc35b2	T	A	17: 45,566,968	H291Q	probably damaging	Het
Slc38a3	A	C	9: 107,655,951	Y308D	probably damaging	Het
Snrpd2	T	C	7: 19,152,610	V106A	probably benign	Het
Sybu	C	A	15: 44,677,602	A355S	possibly damaging	Het
Tes3-ps	A	T	13: 49,494,216	R189S	probably benign	Het
Trmo	T	C	4: 46,382,604	D164G	probably damaging	Het
Vmn1r225	A	G	17: 20,502,561	Q88R	probably benign	Het
Xkr9	T	C	1: 13,672,608	V39A	probably benign	Het
Zbtb21	G	A	16: 97,951,316	T589I	probably damaging	Het
Zbtb41	A	G	1: 139,423,154	K2E	probably damaging	Het
Zfp105	A	G	9: 122,930,503	K413R	possibly 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
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
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'- TGGTAACTGGTACATTTCTCACATG -3'
(R):5'- ACCTTGCACTCTAGTCCCAG -3'

Sequencing Primer
(F):5'- AAGTATCACTTCACTGTGTTGTTAGG -3'
(R):5'- TGCACTCTAGTCCCAGTTATAAAAAC -3'

Posted On

2021-07-15