Mutagenetix > Incidental Mutation

Incidental Mutation 'R4736:Xpo6'

359252

Institutional Source

Beutler Lab

Gene Symbol

Xpo6

Ensembl Gene

ENSMUSG00000000131

Gene Name

exportin 6

Synonyms

Ranbp20, 2610005L19Rik, C230091E20Rik

MMRRC Submission

041963-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R4736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125700887-125799673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125739755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 439 (K439R)

Ref Sequence

ENSEMBL: ENSMUSP00000130527 (fasta)

Gene Model

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

AlphaFold

Q924Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000009344
AA Change: K439R

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

SMART Domains

Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: K439R

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: ENSMUST00000164741

SMART Domains

Protein: ENSMUSP00000132205
Gene: ENSMUSG00000000131

Domain	Start	End	E-Value	Type
Pfam:Xpo1	1	128	9e-14	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000166538
AA Change: K27R

Predicted Effect

probably benign
Transcript: ENSMUST00000166540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167268

Predicted Effect

probably benign
Transcript: ENSMUST00000168189
AA Change: K439R

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

SMART Domains

Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: K439R

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

noncoding transcript
Transcript: ENSMUST00000170675

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,246 (GRCm39)	I1145T	probably damaging	Het
Aadat	T	C	8: 60,993,140 (GRCm39)	V360A	probably benign	Het
Abhd16a	A	T	17: 35,320,859 (GRCm39)	T436S	probably benign	Het
Acbd5	G	T	2: 22,989,596 (GRCm39)	L406F	probably damaging	Het
Agrn	G	A	4: 156,256,858 (GRCm39)	T1142M	probably benign	Het
Aig1	C	A	10: 13,677,674 (GRCm39)	W106L	probably damaging	Het
Akr1d1	T	C	6: 37,534,535 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,581,714 (GRCm39)	D658N	possibly damaging	Het
Arhgap45	A	G	10: 79,862,006 (GRCm39)	Y520C	probably damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Asic5	C	T	3: 81,907,116 (GRCm39)	T47I	possibly damaging	Het
Cabp5	A	G	7: 13,134,664 (GRCm39)		probably null	Het
Ccr6	A	T	17: 8,474,896 (GRCm39)	R34*	probably null	Het
Cdin1	A	G	2: 115,412,369 (GRCm39)	I2V	probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Cmtr1	A	G	17: 29,919,216 (GRCm39)	E704G	possibly damaging	Het
Cyth3	G	A	5: 143,670,234 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dennd6b	T	C	15: 89,069,795 (GRCm39)	H468R	probably benign	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Dpp6	A	G	5: 27,917,657 (GRCm39)	Y616C	probably damaging	Het
Dync2h1	A	T	9: 7,006,862 (GRCm39)	S3710T	probably benign	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Emc3	G	A	6: 113,508,310 (GRCm39)	T45I	possibly damaging	Het
Esf1	T	A	2: 139,966,891 (GRCm39)	D685V	probably damaging	Het
Ezr	A	G	17: 7,008,975 (GRCm39)	S366P	probably benign	Het
Gbe1	C	T	16: 70,292,141 (GRCm39)	A491V	probably damaging	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Heca	G	A	10: 17,790,935 (GRCm39)	Q12*	probably null	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	T	8: 111,249,840 (GRCm39)	Q2261L	probably benign	Het
Itgae	G	T	11: 73,005,706 (GRCm39)	R290L	possibly damaging	Het
Kcna10	C	A	3: 107,102,808 (GRCm39)	L480I	probably benign	Het
Kif27	T	C	13: 58,476,785 (GRCm39)	T622A	probably benign	Het
Lama2	T	C	10: 27,080,925 (GRCm39)	N966S	probably damaging	Het
Mdfic	A	G	6: 15,741,019 (GRCm39)	K38E	possibly damaging	Het
Med25	G	A	7: 44,541,712 (GRCm39)	A26V	probably damaging	Het
Mrpl19	A	T	6: 81,941,329 (GRCm39)	S77R	probably damaging	Het
Mtcl2	T	A	2: 156,862,474 (GRCm39)	D1485V	probably damaging	Het
Mybpc2	T	C	7: 44,161,971 (GRCm39)	D493G	probably damaging	Het
Myh4	A	G	11: 67,131,746 (GRCm39)	T69A	probably benign	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Myo9b	T	C	8: 71,809,236 (GRCm39)	L1815P	probably damaging	Het
Myom2	T	A	8: 15,131,271 (GRCm39)	L323Q	probably damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nktr	T	A	9: 121,578,805 (GRCm39)		probably benign	Het
Nol10	A	G	12: 17,405,288 (GRCm39)	K88E	probably damaging	Het
Nol4	T	C	18: 22,852,050 (GRCm39)	D505G	probably damaging	Het
Nynrin	T	A	14: 56,101,454 (GRCm39)	N374K	probably damaging	Het
Obscn	A	T	11: 58,954,362 (GRCm39)	L3740Q	probably damaging	Het
Or5g23	T	C	2: 85,438,327 (GRCm39)	H309R	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pgm5	G	A	19: 24,812,169 (GRCm39)	A121V	probably damaging	Het
Pi4ka	A	T	16: 17,195,039 (GRCm39)	Y120N	probably benign	Het
Rpl36al	G	A	12: 69,229,732 (GRCm39)	A60V	possibly damaging	Het
Rspo4	T	C	2: 151,685,054 (GRCm39)	Y21H	probably benign	Het
Scube2	A	G	7: 109,430,412 (GRCm39)	V455A	probably benign	Het
Serpina1f	T	C	12: 103,659,805 (GRCm39)	D159G	probably damaging	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Siglecg	T	C	7: 43,067,332 (GRCm39)	F633S	probably benign	Het
Skic2	A	G	17: 35,067,173 (GRCm39)	S89P	possibly damaging	Het
Slc22a13	T	C	9: 119,022,698 (GRCm39)	E501G	probably damaging	Het
Slc44a3	A	G	3: 121,303,855 (GRCm39)	S294P	probably damaging	Het
Smad3	T	G	9: 63,664,842 (GRCm39)	K40Q	probably damaging	Het
Stt3a	T	A	9: 36,661,008 (GRCm39)	M268L	probably benign	Het
Taf4	A	T	2: 179,566,287 (GRCm39)	V817E	probably damaging	Het
Tgfbr1	A	G	4: 47,383,835 (GRCm39)	T58A	probably benign	Het
Trpc6	T	C	9: 8,609,871 (GRCm39)	V113A	probably damaging	Het
Ttll13	T	A	7: 79,898,024 (GRCm39)		probably null	Het
Uba7	T	C	9: 107,857,364 (GRCm39)	L742P	probably benign	Het
Ulk2	A	G	11: 61,724,261 (GRCm39)	L174P	probably damaging	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Unc80	A	T	1: 66,688,831 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,343,749 (GRCm39)		probably null	Het
Vmn1r71	A	T	7: 10,481,791 (GRCm39)	V233D	possibly damaging	Het
Xrn1	G	T	9: 95,915,689 (GRCm39)	G1271C	probably damaging	Het
Yes1	A	T	5: 32,818,121 (GRCm39)	E386V	probably damaging	Het
Zfp759	C	A	13: 67,287,408 (GRCm39)	H320N	probably damaging	Het
Zfp990	A	T	4: 145,263,512 (GRCm39)	H170L	possibly damaging	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
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
R5590:Xpo6	UTSW	7	125,706,250 (GRCm39)	missense	probably damaging	0.98
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'- TGAACTCTGACCACCTCTGG -3'
(R):5'- ATATGGGACTGGAGGCCTTG -3'

Sequencing Primer
(F):5'- CACCTCCAATGGGTTGTTGTAAAGC -3'
(R):5'- ACTGGAGGCCTTGGTTTTGC -3'

Posted On

2015-11-11