Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Xpo1'

541590

Institutional Source

Beutler Lab

Gene Symbol

Xpo1

Ensembl Gene

ENSMUSG00000020290

Gene Name

exportin 1

Synonyms

Crm1

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23256041-23298249 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23285855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 648 (T648A)

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: T648A

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

SMART Domains

Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: T648A

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: T648A

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

SMART Domains

Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: T648A

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: T648A

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

SMART Domains

Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: T648A

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: T648A

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

SMART Domains

Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: T648A

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: 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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,943,803	D159G	probably benign	Het
Ahnak	A	G	19: 9,015,215	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,779,793	A144V	probably damaging	Het
BC080695	A	T	4: 143,571,259	D83V	probably damaging	Het
Ccdc14	T	C	16: 34,690,806	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,289,719	V243I	probably benign	Het
Cdk12	A	T	11: 98,241,699	I985F	unknown	Het
Cfap65	T	C	1: 74,931,899	T87A	possibly damaging	Het
Cilp2	G	A	8: 69,882,540	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cpa6	C	T	1: 10,595,688	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,175,592	I115V	probably benign	Het
Dnah11	G	T	12: 117,933,809	P3562Q	probably damaging	Het
Dnah9	A	G	11: 66,076,341	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,438,002	Q69R	probably benign	Het
Dusp27	T	A	1: 166,107,996	D211V	probably damaging	Het
Ebf3	T	C	7: 137,199,265	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,892,683	C785S	probably benign	Het
Elk4	T	A	1: 132,017,832	F149L	probably damaging	Het
Fgf14	A	G	14: 124,676,597	W41R	probably benign	Het
Fmnl1	T	A	11: 103,171,314	M1K	probably null	Het
Foxk2	A	T	11: 121,299,737	Q568L	probably benign	Het
Fryl	T	G	5: 73,073,929	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,146,236	I75V	probably damaging	Het
Gm3233	T	A	10: 77,759,535		probably benign	Het
Gm5096	G	A	18: 87,756,922	E190K	probably benign	Het
Gnb1	G	T	4: 155,543,194		probably null	Het
Gphn	G	T	12: 78,680,299	V662L	possibly damaging	Het
Il3	A	C	11: 54,267,111	V47G	probably benign	Het
Iqgap3	A	G	3: 88,113,366	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,808,283	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,419,810	S90P	unknown	Het
Lars	C	T	18: 42,236,639	V394I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrp10	A	G	14: 54,469,821		probably benign	Het
Ltn1	A	T	16: 87,397,791	C1407S	probably benign	Het
Lzts2	G	T	19: 45,024,143		probably benign	Het
Msantd2	A	G	9: 37,523,457	E331G	probably damaging	Het
Myo15	G	A	11: 60,503,625	G1218S	probably benign	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Nhp2	A	G	11: 51,623,107	T118A	probably benign	Het
Nup155	A	G	15: 8,147,154	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,326,266	C230S	probably damaging	Het
Olfr103	T	C	17: 37,336,417	I272V	probably benign	Het
Olfr1151	T	C	2: 87,857,951	Y259H	probably damaging	Het
Olfr577	A	G	7: 102,973,884	L36P	possibly damaging	Het
Pfkfb4	A	T	9: 109,010,547	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,325,227	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,409,490	Y8*	probably null	Het
Ptprb	T	A	10: 116,277,248	N44K	probably benign	Het
Sds	G	A	5: 120,481,472	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,386,701	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442	A636T	probably benign	Het
Slc27a1	C	T	8: 71,585,439	A577V	possibly damaging	Het
Spata13	A	T	14: 60,751,851	T319S	possibly damaging	Het
Tdrd3	A	G	14: 87,457,096	D29G	probably damaging	Het
Tex15	A	T	8: 33,570,871	I110L	probably benign	Het
Treml2	A	G	17: 48,308,152	T222A	probably damaging	Het
Trpd52l3	A	T	19: 30,004,146	L100F	probably damaging	Het
Ttf2	C	T	3: 100,945,932	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,219,974		probably benign	Het
Zfp641	C	T	15: 98,292,951	V71I	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
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'- TGAGTCCCCTCAGTGGTTCTTG -3'
(R):5'- ACTGAAAAGGGATTCCTGTTTGAAG -3'

Sequencing Primer
(F):5'- ATAGACGCACTATGCTTTGGAG -3'
(R):5'- GTGCTAAGACTGAAACTTAAACCTC -3'

Posted On

2018-11-28