Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Xpo6'

342004

Institutional Source

Beutler Lab

Gene Symbol

Xpo6

Ensembl Gene

ENSMUSG00000000131

Gene Name

exportin 6

Synonyms

Ranbp20, 2610005L19Rik, C230091E20Rik

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125700887-125799673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125727427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 526 (L526F)

Ref Sequence

ENSEMBL: ENSMUSP00000130527 (fasta)

Gene Model

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

AlphaFold

Q924Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000009344
AA Change: L525F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: L525F

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: ENSMUST00000166538

Predicted Effect

probably benign
Transcript: ENSMUST00000166540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167268

Predicted Effect

probably damaging
Transcript: ENSMUST00000168189
AA Change: L526F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: L526F

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

Meta Mutation Damage Score

0.2847

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	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
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
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'- CCCCAGCTTCTTTGTAGCAAG -3'
(R):5'- TTGTTCTGGCACTATACTAGCAG -3'

Sequencing Primer
(F):5'- AGCAAGAATTTTAAAAACCTTCTGTC -3'
(R):5'- GGCACTATACTAGCAGGTCTTATCTG -3'

Posted On

2015-09-24