Mutagenetix > Incidental Mutation

Incidental Mutation 'R5590:Xpo6'

437440

Institutional Source

Beutler Lab

Gene Symbol

Xpo6

Ensembl Gene

ENSMUSG00000000131

Gene Name

exportin 6

Synonyms

Ranbp20, 2610005L19Rik, C230091E20Rik

MMRRC Submission

043143-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R5590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125700887-125799673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125706250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 30 (I30N)

Ref Sequence

ENSEMBL: ENSMUSP00000126904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000165608] [ENSMUST00000166719] [ENSMUST00000168189] [ENSMUST00000171861]

AlphaFold

Q924Z6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009344
AA Change: I979N

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: I979N

Domain	Start	End	E-Value	Type
IBN_N	31	97	4.04e-6	SMART
Pfam:Xpo1	103	290	1.4e-29	PFAM
low complexity region	469	484	N/A	INTRINSIC
low complexity region	672	684	N/A	INTRINSIC
low complexity region	1022	1034	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165608

Predicted Effect

probably benign
Transcript: ENSMUST00000165660

Predicted Effect

probably benign
Transcript: ENSMUST00000166719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167315

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168189
AA Change: I980N

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: I980N

Domain	Start	End	E-Value	Type
IBN_N	31	97	4.04e-6	SMART
Pfam:Xpo1	103	290	1.1e-25	PFAM
low complexity region	469	485	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	1023	1035	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000168564
AA Change: I17N

SMART Domains

Protein: ENSMUSP00000129881
Gene: ENSMUSG00000000131
AA Change: I17N

Domain	Start	End	E-Value	Type
low complexity region	61	73	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170675

Predicted Effect

probably damaging
Transcript: ENSMUST00000171861
AA Change: I30N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168933

Meta Mutation Damage Score

0.7730

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (108/108)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	T	G	4: 124,504,280 (GRCm39)	M91L	unknown	Het
A2m	C	T	6: 121,653,891 (GRCm39)	T1408M	probably damaging	Het
Abca16	C	T	7: 120,143,995 (GRCm39)	T1671M	probably damaging	Het
Adamts8	A	T	9: 30,862,632 (GRCm39)	N279I	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Aldh4a1	T	A	4: 139,369,415 (GRCm39)	V322E	probably damaging	Het
Atp12a	A	T	14: 56,610,837 (GRCm39)	Y327F	probably benign	Het
C4b	T	C	17: 34,959,309 (GRCm39)	T422A	probably damaging	Het
Cacna1c	A	T	6: 118,664,143 (GRCm39)	S668T	probably damaging	Het
Cchcr1	A	T	17: 35,837,577 (GRCm39)	E426D	probably damaging	Het
Ccr3	G	A	9: 123,828,830 (GRCm39)	G55D	probably damaging	Het
Cdipt	T	A	7: 126,578,704 (GRCm39)		probably null	Het
Cep19	A	G	16: 31,922,716 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cyp3a11	C	A	5: 145,802,787 (GRCm39)	M235I	probably benign	Het
Dnajc21	A	T	15: 10,462,363 (GRCm39)	D87E	possibly damaging	Het
Ell	A	C	8: 70,992,357 (GRCm39)	M1L	possibly damaging	Het
Esyt3	T	C	9: 99,240,466 (GRCm39)		probably benign	Het
Ets1	T	C	9: 32,640,094 (GRCm39)		probably benign	Het
Fam222b	T	A	11: 78,045,858 (GRCm39)	M473K	probably benign	Het
Fanca	T	C	8: 124,030,702 (GRCm39)		probably benign	Het
Fbrsl1	G	T	5: 110,529,484 (GRCm39)	A67D	probably damaging	Het
Fchsd1	G	A	18: 38,094,380 (GRCm39)	P622L	probably damaging	Het
Gal3st2c	T	G	1: 93,936,023 (GRCm39)		probably null	Het
Gins2	T	G	8: 121,308,486 (GRCm39)	H166P	possibly damaging	Het
Gm10118	A	T	10: 63,762,845 (GRCm39)		probably benign	Het
Gm9979	A	T	13: 40,859,289 (GRCm39)		noncoding transcript	Het
Hspbap1	A	G	16: 35,622,033 (GRCm39)	Y126C	probably damaging	Het
Hspd1	A	T	1: 55,123,928 (GRCm39)	I64N	probably damaging	Het
Igkv3-4	A	T	6: 70,649,267 (GRCm39)	S89C	probably damaging	Het
Il10ra	T	A	9: 45,176,924 (GRCm39)	K134*	probably null	Het
Il12rb1	G	A	8: 71,266,411 (GRCm39)	C252Y	possibly damaging	Het
Il24	A	T	1: 130,810,253 (GRCm39)	V201E	possibly damaging	Het
Inpp1	A	G	1: 52,833,820 (GRCm39)	I92T	probably damaging	Het
Kcnh5	T	C	12: 75,023,463 (GRCm39)	D535G	probably benign	Het
Kcnq4	T	A	4: 120,573,082 (GRCm39)	I240F	probably damaging	Het
Kctd17	G	A	15: 78,321,502 (GRCm39)		probably benign	Het
Leo1	T	A	9: 75,364,423 (GRCm39)	I521N	possibly damaging	Het
Mdga1	A	G	17: 30,058,841 (GRCm39)	L722P	probably damaging	Het
Met	G	T	6: 17,548,781 (GRCm39)	V942L	probably benign	Het
Mfn1	A	T	3: 32,617,996 (GRCm39)	T110S	probably benign	Het
Mrps15	T	C	4: 125,942,488 (GRCm39)	I79T	probably benign	Het
Mycbp2	A	C	14: 103,360,791 (GRCm39)	M4497R	probably damaging	Het
Mylk	T	A	16: 34,699,722 (GRCm39)	S362T	probably benign	Het
Mypn	A	G	10: 62,955,827 (GRCm39)	F1209L	probably benign	Het
Nab2	T	C	10: 127,500,526 (GRCm39)	S189G	probably damaging	Het
Naxe	A	C	3: 87,963,840 (GRCm39)		probably null	Het
Ncf1	A	G	5: 134,252,355 (GRCm39)	V232A	probably damaging	Het
Nell1	A	G	7: 49,929,359 (GRCm39)	Y422C	probably damaging	Het
Nmnat2	G	T	1: 152,969,807 (GRCm39)	G176V	probably damaging	Het
Npr1	A	G	3: 90,362,149 (GRCm39)	S999P	probably damaging	Het
Nuak1	T	C	10: 84,211,119 (GRCm39)	D323G	probably benign	Het
Or4d10b	A	G	19: 12,036,642 (GRCm39)	V158A	probably benign	Het
Or5h23	A	G	16: 58,906,360 (GRCm39)	F162S	probably benign	Het
Or8b3b	T	A	9: 38,584,261 (GRCm39)	T160S	probably damaging	Het
Osbpl8	T	C	10: 111,108,029 (GRCm39)	S342P	probably damaging	Het
Pag1	A	T	3: 9,764,482 (GRCm39)	Y224N	probably damaging	Het
Pald1	T	A	10: 61,179,489 (GRCm39)	H460L	probably damaging	Het
Per2	G	A	1: 91,355,578 (GRCm39)	Q727*	probably null	Het
Pex19	T	C	1: 171,960,779 (GRCm39)	V134A	probably benign	Het
Phlpp1	A	T	1: 106,320,657 (GRCm39)	I1551F	possibly damaging	Het
Ppef2	A	T	5: 92,386,998 (GRCm39)	V313D	probably damaging	Het
Prorp	T	C	12: 55,351,257 (GRCm39)	S189P	possibly damaging	Het
Pzp	A	C	6: 128,500,759 (GRCm39)	F153C	probably damaging	Het
Rasl11a	A	G	5: 146,782,052 (GRCm39)	H9R	probably benign	Het
Rfx3	A	T	19: 27,779,780 (GRCm39)		probably null	Het
Rmnd5b	A	T	11: 51,518,789 (GRCm39)	I68N	probably damaging	Het
Senp5	T	A	16: 31,808,331 (GRCm39)	S281C	probably damaging	Het
Sh3rf1	G	A	8: 61,814,766 (GRCm39)	E442K	probably benign	Het
Slc12a3	G	A	8: 95,072,416 (GRCm39)	V645M	probably damaging	Het
Slc22a16	T	C	10: 40,457,337 (GRCm39)	F193L	possibly damaging	Het
Slc35f1	A	T	10: 52,984,274 (GRCm39)	T345S	possibly damaging	Het
Slc9a1	G	A	4: 133,148,874 (GRCm39)	R704H	probably damaging	Het
Spta1	A	T	1: 174,003,336 (GRCm39)	Y89F	possibly damaging	Het
Sspo	A	G	6: 48,451,425 (GRCm39)	E2741G	probably damaging	Het
Strn4	G	A	7: 16,567,799 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,132 (GRCm39)	T1859A	probably damaging	Het
Tbc1d14	A	T	5: 36,682,389 (GRCm39)	Y3N	probably damaging	Het
Tdrd9	C	A	12: 112,018,414 (GRCm39)	R1278S	probably benign	Het
Tenm4	C	A	7: 96,446,608 (GRCm39)	A826E	possibly damaging	Het
Tenm4	G	T	7: 96,446,607 (GRCm39)	A826S	possibly damaging	Het
Tet2	C	T	3: 133,182,241 (GRCm39)		probably null	Het
Tfec	A	G	6: 16,834,199 (GRCm39)	L236P	probably benign	Het
Tjap1	A	G	17: 46,569,797 (GRCm39)	S388P	probably damaging	Het
Tle1	T	C	4: 72,043,208 (GRCm39)	T554A	possibly damaging	Het
Tmem17	G	A	11: 22,467,450 (GRCm39)	V83I	probably benign	Het
Tnrc6b	C	T	15: 80,760,703 (GRCm39)	H137Y	probably damaging	Het
Tomm5	T	C	4: 45,106,679 (GRCm39)		probably benign	Het
Top3b	T	A	16: 16,709,441 (GRCm39)		probably benign	Het
Tph1	T	C	7: 46,303,216 (GRCm39)	H254R	probably damaging	Het
Tpte	T	C	8: 22,841,468 (GRCm39)	Y487H	probably damaging	Het
Trappc13	T	A	13: 104,284,749 (GRCm39)	D241V	probably damaging	Het
Trrap	A	G	5: 144,719,075 (GRCm39)	I193V	probably benign	Het
Tspear	A	T	10: 77,706,199 (GRCm39)	H323L	probably benign	Het
Ttc39a	A	T	4: 109,290,184 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubg1	A	G	11: 101,014,858 (GRCm39)	D200G	probably damaging	Het
Ugdh	C	A	5: 65,580,217 (GRCm39)		probably benign	Het
Uso1	A	G	5: 92,328,467 (GRCm39)	N355D	probably benign	Het
Vamp4	T	C	1: 162,420,248 (GRCm39)		probably null	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vps52	A	G	17: 34,180,195 (GRCm39)	T300A	probably benign	Het
Wt1	A	T	2: 104,957,629 (GRCm39)	H163L	probably damaging	Het
Xirp2	T	C	2: 67,344,379 (GRCm39)	S2207P	probably benign	Het
Zfp386	T	A	12: 116,023,347 (GRCm39)	I320K	probably benign	Het

Other mutations in Xpo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Xpo6	APN	7	125,728,740 (GRCm39)	missense	probably benign	0.03
IGL01432:Xpo6	APN	7	125,723,553 (GRCm39)	missense	probably benign	0.31
IGL01627:Xpo6	APN	7	125,748,506 (GRCm39)	missense	probably damaging	1.00
IGL01878:Xpo6	APN	7	125,773,365 (GRCm39)	missense	probably benign	0.35
IGL02185:Xpo6	APN	7	125,712,980 (GRCm39)	splice site	probably benign
IGL02744:Xpo6	APN	7	125,707,620 (GRCm39)	unclassified	probably benign
IGL02927:Xpo6	APN	7	125,755,901 (GRCm39)	missense	possibly damaging	0.86
IGL03216:Xpo6	APN	7	125,703,985 (GRCm39)	missense	probably damaging	1.00
Anthracite	UTSW	7	125,701,505 (GRCm39)	nonsense	probably null
Bituminous	UTSW	7	125,712,127 (GRCm39)	splice site	probably benign
Cerise	UTSW	7	125,708,016 (GRCm39)	missense	probably damaging	1.00
Crayola	UTSW	7	125,706,250 (GRCm39)	missense	probably damaging	0.98
pastel	UTSW	7	125,707,791 (GRCm39)	missense	probably damaging	1.00
R0845:Xpo6	UTSW	7	125,728,715 (GRCm39)	splice site	probably benign
R1671:Xpo6	UTSW	7	125,707,715 (GRCm39)	missense	possibly damaging	0.92
R2349:Xpo6	UTSW	7	125,712,875 (GRCm39)	missense	probably benign	0.18
R3051:Xpo6	UTSW	7	125,703,893 (GRCm39)	missense	probably damaging	1.00
R3052:Xpo6	UTSW	7	125,703,893 (GRCm39)	missense	probably damaging	1.00
R3053:Xpo6	UTSW	7	125,703,893 (GRCm39)	missense	probably damaging	1.00
R3902:Xpo6	UTSW	7	125,719,581 (GRCm39)	missense	probably damaging	1.00
R4011:Xpo6	UTSW	7	125,739,780 (GRCm39)	missense	probably benign	0.13
R4231:Xpo6	UTSW	7	125,773,354 (GRCm39)	missense	possibly damaging	0.66
R4569:Xpo6	UTSW	7	125,727,427 (GRCm39)	missense	probably damaging	1.00
R4604:Xpo6	UTSW	7	125,712,924 (GRCm39)	missense	possibly damaging	0.52
R4736:Xpo6	UTSW	7	125,739,755 (GRCm39)	missense	probably benign
R4919:Xpo6	UTSW	7	125,752,115 (GRCm39)	missense	probably benign	0.01
R4953:Xpo6	UTSW	7	125,768,443 (GRCm39)	missense	probably damaging	1.00
R5017:Xpo6	UTSW	7	125,703,919 (GRCm39)	missense	probably benign	0.31
R5856:Xpo6	UTSW	7	125,748,674 (GRCm39)	intron	probably benign
R6077:Xpo6	UTSW	7	125,709,124 (GRCm39)	missense	possibly damaging	0.67
R6156:Xpo6	UTSW	7	125,708,016 (GRCm39)	missense	probably damaging	1.00
R6256:Xpo6	UTSW	7	125,707,791 (GRCm39)	missense	probably damaging	1.00
R6481:Xpo6	UTSW	7	125,712,057 (GRCm39)	missense	probably damaging	1.00
R6500:Xpo6	UTSW	7	125,770,262 (GRCm39)	intron	probably benign
R7407:Xpo6	UTSW	7	125,770,224 (GRCm39)	missense	probably damaging	0.99
R7480:Xpo6	UTSW	7	125,701,505 (GRCm39)	nonsense	probably null
R7630:Xpo6	UTSW	7	125,739,561 (GRCm39)	splice site	probably null
R7794:Xpo6	UTSW	7	125,760,035 (GRCm39)	missense	probably damaging	0.98
R7984:Xpo6	UTSW	7	125,719,616 (GRCm39)	missense	probably benign
R8022:Xpo6	UTSW	7	125,768,426 (GRCm39)	missense	probably benign	0.04
R8283:Xpo6	UTSW	7	125,727,421 (GRCm39)	missense	possibly damaging	0.90
R8438:Xpo6	UTSW	7	125,760,054 (GRCm39)	missense	possibly damaging	0.71
R8786:Xpo6	UTSW	7	125,712,127 (GRCm39)	splice site	probably benign
R9427:Xpo6	UTSW	7	125,748,418 (GRCm39)	nonsense	probably null
R9674:Xpo6	UTSW	7	125,723,700 (GRCm39)	missense	probably benign	0.20
R9711:Xpo6	UTSW	7	125,712,873 (GRCm39)	missense	probably benign	0.00
X0012:Xpo6	UTSW	7	125,768,399 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TAACAGGGTCAGAGCTCAGTG -3'
(R):5'- TGGCACCTCTTAGGCTTCTG -3'

Sequencing Primer
(F):5'- GTGACCCCACACTTGCTGTAG -3'
(R):5'- TCCAAGCTGCATGGAGGG -3'

Posted On

2016-10-26