Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Xpo6'

506116

Institutional Source

Beutler Lab

Gene Symbol

Xpo6

Ensembl Gene

ENSMUSG00000000131

Gene Name

exportin 6

Synonyms

2610005L19Rik, C230091E20Rik, Ranbp20

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126101715-126200501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126108619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 872 (Q872K)

Ref Sequence

ENSEMBL: ENSMUSP00000009344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000165608] [ENSMUST00000166538] [ENSMUST00000166719] [ENSMUST00000168189] [ENSMUST00000171861]

AlphaFold

Q924Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000009344
AA Change: Q872K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: Q872K

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

unknown
Transcript: ENSMUST00000165660
AA Change: Q102K

Predicted Effect

probably benign
Transcript: ENSMUST00000166538

Predicted Effect

probably benign
Transcript: ENSMUST00000166719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167315

Predicted Effect

probably damaging
Transcript: ENSMUST00000168189
AA Change: Q873K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: Q873K

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

probably benign
Transcript: ENSMUST00000168564

SMART Domains

Protein: ENSMUSP00000129881
Gene: ENSMUSG00000000131

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170675

Predicted Effect

probably benign
Transcript: ENSMUST00000171861

Meta Mutation Damage Score

0.2079

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Xpo6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Xpo6	APN	7	126129568	missense	probably benign	0.03
IGL01432:Xpo6	APN	7	126124381	missense	probably benign	0.31
IGL01627:Xpo6	APN	7	126149334	missense	probably damaging	1.00
IGL01878:Xpo6	APN	7	126174193	missense	probably benign	0.35
IGL02185:Xpo6	APN	7	126113808	splice site	probably benign
IGL02744:Xpo6	APN	7	126108448	unclassified	probably benign
IGL02927:Xpo6	APN	7	126156729	missense	possibly damaging	0.86
IGL03216:Xpo6	APN	7	126104813	missense	probably damaging	1.00
Anthracite	UTSW	7	126102333	nonsense	probably null
Bituminous	UTSW	7	126112955	splice site	probably benign
Cerise	UTSW	7	126108844	missense	probably damaging	1.00
Crayola	UTSW	7	126107078	missense	probably damaging	0.98
pastel	UTSW	7	126108619	missense	probably damaging	1.00
R0845:Xpo6	UTSW	7	126129543	splice site	probably benign
R1671:Xpo6	UTSW	7	126108543	missense	possibly damaging	0.92
R2349:Xpo6	UTSW	7	126113703	missense	probably benign	0.18
R3051:Xpo6	UTSW	7	126104721	missense	probably damaging	1.00
R3052:Xpo6	UTSW	7	126104721	missense	probably damaging	1.00
R3053:Xpo6	UTSW	7	126104721	missense	probably damaging	1.00
R3902:Xpo6	UTSW	7	126120409	missense	probably damaging	1.00
R4011:Xpo6	UTSW	7	126140608	missense	probably benign	0.13
R4231:Xpo6	UTSW	7	126174182	missense	possibly damaging	0.66
R4569:Xpo6	UTSW	7	126128255	missense	probably damaging	1.00
R4604:Xpo6	UTSW	7	126113752	missense	possibly damaging	0.52
R4736:Xpo6	UTSW	7	126140583	missense	probably benign
R4919:Xpo6	UTSW	7	126152943	missense	probably benign	0.01
R4953:Xpo6	UTSW	7	126169271	missense	probably damaging	1.00
R5017:Xpo6	UTSW	7	126104747	missense	probably benign	0.31
R5590:Xpo6	UTSW	7	126107078	missense	probably damaging	0.98
R5856:Xpo6	UTSW	7	126149502	intron	probably benign
R6077:Xpo6	UTSW	7	126109952	missense	possibly damaging	0.67
R6156:Xpo6	UTSW	7	126108844	missense	probably damaging	1.00
R6481:Xpo6	UTSW	7	126112885	missense	probably damaging	1.00
R6500:Xpo6	UTSW	7	126171090	intron	probably benign
R7407:Xpo6	UTSW	7	126171052	missense	probably damaging	0.99
R7480:Xpo6	UTSW	7	126102333	nonsense	probably null
R7630:Xpo6	UTSW	7	126140389	splice site	probably null
R7794:Xpo6	UTSW	7	126160863	missense	probably damaging	0.98
R7984:Xpo6	UTSW	7	126120444	missense	probably benign
R8022:Xpo6	UTSW	7	126169254	missense	probably benign	0.04
R8283:Xpo6	UTSW	7	126128249	missense	possibly damaging	0.90
R8438:Xpo6	UTSW	7	126160882	missense	possibly damaging	0.71
R8786:Xpo6	UTSW	7	126112955	splice site	probably benign
R9427:Xpo6	UTSW	7	126149246	nonsense	probably null
R9674:Xpo6	UTSW	7	126124528	missense	probably benign	0.20
R9711:Xpo6	UTSW	7	126113701	missense	probably benign	0.00
X0012:Xpo6	UTSW	7	126169227	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TACGTACCTCAGCAATGATGG -3'
(R):5'- TTCGAGTACAGATGGGCGTG -3'

Sequencing Primer
(F):5'- CAATGATGGGGTACACTTGCTCC -3'
(R):5'- TGCCGTTCACAGAGCAGATC -3'

Posted On

2018-02-28