Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Xpo5'

228669

Institutional Source

Beutler Lab

Gene Symbol

Xpo5

Ensembl Gene

ENSMUSG00000067150

Gene Name

exportin 5

Synonyms

Exp5, 2410004H11Rik, 2700038C24Rik

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46513737-46554524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46536017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 550 (S550P)

Ref Sequence

ENSEMBL: ENSMUSP00000084257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087031]

AlphaFold

Q924C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000087031
AA Change: S550P

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

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: S550P

Domain	Start	End	E-Value	Type
IBN_N	33	100	6.73e-3	SMART
Pfam:Xpo1	109	271	1.4e-34	PFAM
low complexity region	326	342	N/A	INTRINSIC
low complexity region	770	779	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,826,741 (GRCm39)	W462*	probably null	Het
Aftph	A	T	11: 20,642,571 (GRCm39)	Y821N	probably damaging	Het
Ahnak	A	T	19: 8,985,405 (GRCm39)	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,614,575 (GRCm39)	F144L	probably benign	Het
Arid4b	C	T	13: 14,370,037 (GRCm39)	R1178C	probably damaging	Het
Asb8	A	T	15: 98,039,254 (GRCm39)	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,233,968 (GRCm39)	N165S	probably damaging	Het
Bod1l	A	T	5: 41,966,085 (GRCm39)	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,104,155 (GRCm39)	I825T	probably damaging	Het
C4b	A	G	17: 34,955,075 (GRCm39)	W804R	probably damaging	Het
Cadm3	A	T	1: 173,171,969 (GRCm39)	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982 (GRCm39)	F552L	probably benign	Het
Cdh20	G	C	1: 109,976,607 (GRCm39)	A91P	probably damaging	Het
Cela1	A	G	15: 100,573,203 (GRCm39)		probably null	Het
Clk3	T	C	9: 57,658,400 (GRCm39)	Y582C	probably damaging	Het
Cma1	C	T	14: 56,181,155 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,299 (GRCm39)	S95P	probably benign	Het
Cylc1	C	A	X: 110,166,892 (GRCm39)	T391K	unknown	Het
Cyp3a11	T	A	5: 145,791,891 (GRCm39)	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,041,524 (GRCm39)	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,291,693 (GRCm39)	D226A	possibly damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dlec1	A	C	9: 118,941,154 (GRCm39)	T235P	probably damaging	Het
Dnaaf1	G	A	8: 120,317,341 (GRCm39)	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,163,758 (GRCm39)	R377W	probably damaging	Het
Dpep1	T	A	8: 123,927,130 (GRCm39)	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,245 (GRCm39)	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802 (GRCm39)	I596L	possibly damaging	Het
Edem1	T	A	6: 108,831,248 (GRCm39)	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,258,858 (GRCm39)	E9*	probably null	Het
Enpep	T	A	3: 129,074,172 (GRCm39)	N792Y	probably benign	Het
Enpp2	A	T	15: 54,739,110 (GRCm39)	M391K	probably damaging	Het
Fanca	A	C	8: 124,001,220 (GRCm39)	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,125,667 (GRCm39)	L74I	probably damaging	Het
Fchsd2	T	A	7: 100,926,624 (GRCm39)	F571L	probably benign	Het
Fhad1	T	C	4: 141,626,560 (GRCm39)	D1345G	probably benign	Het
G2e3	T	C	12: 51,419,389 (GRCm39)	F702L	probably damaging	Het
Glce	A	T	9: 61,968,228 (GRCm39)	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,734,183 (GRCm39)	D119G	probably benign	Het
Gpr137c	T	C	14: 45,481,616 (GRCm39)	I144T	probably damaging	Het
Gprin3	A	G	6: 59,331,504 (GRCm39)	C268R	possibly damaging	Het
Hadha	G	A	5: 30,333,834 (GRCm39)	T395M	probably benign	Het
Hdhd2	T	G	18: 77,052,738 (GRCm39)		probably null	Het
Homer2	C	T	7: 81,268,451 (GRCm39)	E70K	probably benign	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Hrh3	T	C	2: 179,743,043 (GRCm39)	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,292,849 (GRCm39)	V153A	probably benign	Het
Igf2r	A	T	17: 12,920,206 (GRCm39)	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,150,970 (GRCm39)	R279H	possibly damaging	Het
Itga10	A	T	3: 96,562,314 (GRCm39)	R699*	probably null	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Itsn2	T	G	12: 4,677,879 (GRCm39)	F79V	probably damaging	Het
Jak3	C	A	8: 72,133,358 (GRCm39)	C350*	probably null	Het
Jak3	A	T	8: 72,136,059 (GRCm39)	K620*	probably null	Het
Kcnq5	T	C	1: 21,531,821 (GRCm39)	S421G	probably benign	Het
Kdm2b	A	T	5: 123,021,428 (GRCm39)	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,620,047 (GRCm39)	D170G	possibly damaging	Het
Lama3	A	T	18: 12,661,783 (GRCm39)	T2160S	probably benign	Het
Lman1	A	T	18: 66,131,423 (GRCm39)		probably benign	Het
Lmtk3	G	A	7: 45,450,335 (GRCm39)		probably null	Het
Ltb	A	G	17: 35,414,739 (GRCm39)	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,008,378 (GRCm39)	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,393,712 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,875,354 (GRCm39)	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,697,317 (GRCm39)	S678N	probably damaging	Het
Mon2	A	T	10: 122,831,681 (GRCm39)	I1675N	probably damaging	Het
Mug2	A	G	6: 122,056,571 (GRCm39)	N1172S	probably benign	Het
Naa30	C	G	14: 49,410,556 (GRCm39)	S161R	possibly damaging	Het
Ncaph	T	C	2: 126,966,795 (GRCm39)	N220D	probably damaging	Het
Nell1	T	C	7: 50,210,578 (GRCm39)	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877 (GRCm38)	N142S	possibly damaging	Het
Nin	T	A	12: 70,089,192 (GRCm39)	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693 (GRCm38)		noncoding transcript	Het
Nrg1	T	G	8: 32,408,043 (GRCm39)	E63D	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j7	A	G	17: 38,234,771 (GRCm39)	T105A	probably benign	Het
Or5d39	T	C	2: 87,979,487 (GRCm39)	Y292C	probably damaging	Het
Or5g29	G	A	2: 85,421,627 (GRCm39)	V248I	possibly damaging	Het
Or5p53	C	T	7: 107,532,868 (GRCm39)	T47M	probably benign	Het
Or6ae1	T	A	7: 139,742,737 (GRCm39)	E42V	probably damaging	Het
Or7d11	A	T	9: 19,965,892 (GRCm39)	I289N	probably damaging	Het
Or7g27	A	G	9: 19,250,352 (GRCm39)	I199V	probably benign	Het
Or7g32	T	A	9: 19,408,533 (GRCm39)	V163E	possibly damaging	Het
Orc5	C	T	5: 22,721,701 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,125,085 (GRCm39)	R691Q	probably benign	Het
Pofut1	T	A	2: 153,085,580 (GRCm39)	D54E	probably benign	Het
Prl2c5	T	A	13: 13,365,238 (GRCm39)	V128E	probably damaging	Het
Ptk7	T	C	17: 46,877,164 (GRCm39)	M965V	possibly damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Pzp	A	T	6: 128,460,673 (GRCm39)	N1494K	probably benign	Het
Rad21l	A	G	2: 151,487,349 (GRCm39)	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,542,305 (GRCm39)	M352K	possibly damaging	Het
Rpusd2	G	A	2: 118,867,696 (GRCm39)		probably null	Het
Rsph14	A	T	10: 74,865,603 (GRCm39)	D78E	probably damaging	Het
Rtl9	A	T	X: 141,885,026 (GRCm39)	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,431,690 (GRCm39)	H74L	probably damaging	Het
Rusc1	G	A	3: 88,995,155 (GRCm39)	T725I	possibly damaging	Het
Rusf1	A	G	7: 127,887,503 (GRCm39)	L176P	probably damaging	Het
Ryr2	C	T	13: 11,610,622 (GRCm39)	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,784,709 (GRCm39)	V224A	possibly damaging	Het
Shprh	A	T	10: 11,027,864 (GRCm39)	N157I	probably benign	Het
Siglece	A	G	7: 43,307,210 (GRCm39)	I67T	probably benign	Het
Slc9b2	A	T	3: 135,032,027 (GRCm39)	T296S	probably damaging	Het
Sorbs2	A	G	8: 46,228,666 (GRCm39)	K276E	probably damaging	Het
Synj2	A	G	17: 6,087,755 (GRCm39)	T1269A	probably benign	Het
Taar7b	T	C	10: 23,876,573 (GRCm39)	I246T	possibly damaging	Het
Taldo1	A	G	7: 140,976,067 (GRCm39)	Y113C	probably damaging	Het
Tarbp1	A	T	8: 127,174,333 (GRCm39)		probably null	Het
Tars1	C	T	15: 11,394,459 (GRCm39)	M59I	probably benign	Het
Tas2r130	G	A	6: 131,607,780 (GRCm39)	T5I	probably benign	Het
Tex48	T	C	4: 63,525,652 (GRCm39)	E77G	probably damaging	Het
Tmco5	A	G	2: 116,722,736 (GRCm39)	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,524,725 (GRCm39)	H243Q	probably benign	Het
Ttn	T	A	2: 76,564,638 (GRCm39)	R26754*	probably null	Het
Ttn	G	A	2: 76,727,924 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,358 (GRCm39)	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,850,930 (GRCm39)	R115*	probably null	Het
Umod	T	G	7: 119,075,938 (GRCm39)	N276T	probably damaging	Het
Unc13c	A	T	9: 73,572,938 (GRCm39)	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,679,754 (GRCm39)	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,610,657 (GRCm39)	D1442E	probably damaging	Het
Utp4	A	G	8: 107,625,153 (GRCm39)	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,575,075 (GRCm39)	N127K	probably benign	Het
Vmn2r75	T	A	7: 85,814,372 (GRCm39)	T374S	probably benign	Het
Washc5	A	G	15: 59,222,257 (GRCm39)	F523L	probably damaging	Het
Wdr3	A	T	3: 100,067,213 (GRCm39)		probably null	Het
Wdr89	T	C	12: 75,679,762 (GRCm39)	Y164C	probably damaging	Het
Zfp69	T	C	4: 120,788,029 (GRCm39)	T429A	probably damaging	Het
Zfpm1	G	T	8: 123,063,331 (GRCm39)	G797C	probably benign	Het

Other mutations in Xpo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Xpo5	APN	17	46,535,973 (GRCm39)	missense	probably damaging	1.00
IGL00650:Xpo5	APN	17	46,519,172 (GRCm39)	missense	probably damaging	1.00
IGL00785:Xpo5	APN	17	46,515,618 (GRCm39)	missense	probably damaging	1.00
IGL01869:Xpo5	APN	17	46,553,133 (GRCm39)	missense	possibly damaging	0.75
IGL01929:Xpo5	APN	17	46,513,855 (GRCm39)	missense	probably benign	0.13
IGL02433:Xpo5	APN	17	46,550,446 (GRCm39)	missense	probably damaging	0.99
IGL02550:Xpo5	APN	17	46,540,255 (GRCm39)	missense	probably benign	0.16
IGL02637:Xpo5	APN	17	46,546,905 (GRCm39)	missense	probably damaging	1.00
IGL02942:Xpo5	APN	17	46,519,059 (GRCm39)	missense	probably damaging	0.99
IGL03004:Xpo5	APN	17	46,518,766 (GRCm39)	missense	probably damaging	1.00
IGL03149:Xpo5	APN	17	46,526,740 (GRCm39)	splice site	probably null
IGL03296:Xpo5	APN	17	46,532,320 (GRCm39)	nonsense	probably null
fortify	UTSW	17	46,532,347 (GRCm39)	missense	probably benign	0.01
fortissimo	UTSW	17	46,546,896 (GRCm39)	missense	probably benign	0.36
PIT4403001:Xpo5	UTSW	17	46,550,495 (GRCm39)	missense	probably benign	0.01
R0009:Xpo5	UTSW	17	46,515,712 (GRCm39)	splice site	probably benign
R0009:Xpo5	UTSW	17	46,515,712 (GRCm39)	splice site	probably benign
R0035:Xpo5	UTSW	17	46,551,101 (GRCm39)	missense	probably benign
R0276:Xpo5	UTSW	17	46,552,433 (GRCm39)	missense	probably damaging	1.00
R0626:Xpo5	UTSW	17	46,532,359 (GRCm39)	missense	probably damaging	1.00
R0843:Xpo5	UTSW	17	46,533,576 (GRCm39)	splice site	probably benign
R1440:Xpo5	UTSW	17	46,518,853 (GRCm39)	splice site	probably benign
R1506:Xpo5	UTSW	17	46,538,814 (GRCm39)	missense	probably benign	0.04
R1513:Xpo5	UTSW	17	46,537,906 (GRCm39)	missense	probably benign	0.06
R2258:Xpo5	UTSW	17	46,551,822 (GRCm39)	nonsense	probably null
R2259:Xpo5	UTSW	17	46,551,822 (GRCm39)	nonsense	probably null
R2260:Xpo5	UTSW	17	46,551,822 (GRCm39)	nonsense	probably null
R2263:Xpo5	UTSW	17	46,541,269 (GRCm39)	missense	probably benign
R3016:Xpo5	UTSW	17	46,531,757 (GRCm39)	missense	probably damaging	1.00
R3149:Xpo5	UTSW	17	46,553,173 (GRCm39)	splice site	probably null
R3150:Xpo5	UTSW	17	46,553,173 (GRCm39)	splice site	probably null
R4613:Xpo5	UTSW	17	46,547,889 (GRCm39)	missense	probably benign
R4784:Xpo5	UTSW	17	46,533,643 (GRCm39)	missense	possibly damaging	0.59
R4808:Xpo5	UTSW	17	46,546,896 (GRCm39)	missense	probably benign	0.36
R4981:Xpo5	UTSW	17	46,531,743 (GRCm39)	missense	probably damaging	0.99
R5159:Xpo5	UTSW	17	46,528,535 (GRCm39)	missense	probably damaging	1.00
R5286:Xpo5	UTSW	17	46,545,406 (GRCm39)	missense	probably benign
R5294:Xpo5	UTSW	17	46,547,848 (GRCm39)	missense	probably benign	0.12
R5550:Xpo5	UTSW	17	46,545,418 (GRCm39)	missense	possibly damaging	0.87
R5750:Xpo5	UTSW	17	46,529,556 (GRCm39)	critical splice donor site	probably null
R5774:Xpo5	UTSW	17	46,552,772 (GRCm39)	nonsense	probably null
R5921:Xpo5	UTSW	17	46,532,347 (GRCm39)	missense	probably benign	0.01
R6165:Xpo5	UTSW	17	46,546,883 (GRCm39)	missense	possibly damaging	0.53
R6576:Xpo5	UTSW	17	46,551,734 (GRCm39)	splice site	probably null
R7244:Xpo5	UTSW	17	46,525,551 (GRCm39)	missense	probably damaging	1.00
R7414:Xpo5	UTSW	17	46,532,295 (GRCm39)	missense	probably benign
R7737:Xpo5	UTSW	17	46,547,016 (GRCm39)	splice site	probably null
R8144:Xpo5	UTSW	17	46,519,145 (GRCm39)	missense	probably benign	0.09
R8752:Xpo5	UTSW	17	46,547,838 (GRCm39)	critical splice acceptor site	probably benign
R8882:Xpo5	UTSW	17	46,538,666 (GRCm39)	missense	possibly damaging	0.82
R9370:Xpo5	UTSW	17	46,546,844 (GRCm39)	missense	probably damaging	1.00
X0019:Xpo5	UTSW	17	46,545,470 (GRCm39)	missense	probably benign	0.00
X0062:Xpo5	UTSW	17	46,541,192 (GRCm39)	missense	probably damaging	1.00
Z1176:Xpo5	UTSW	17	46,531,688 (GRCm39)	missense	probably benign	0.11
Z1177:Xpo5	UTSW	17	46,536,050 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GCACGAAGCTCTGACTTCAC -3'
(R):5'- TGCCTCTTGACCAGTTTATAACAG -3'

Sequencing Primer
(F):5'- GTGCAGTTACGTGTGCTAAC -3'
(R):5'- GGCTTATACCTTAGAGAAGACC -3'

Posted On

2014-09-17