Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Xpo5'

243687

Institutional Source

Beutler Lab

Gene Symbol

Xpo5

Ensembl Gene

ENSMUSG00000067150

Gene Name

exportin 5

Synonyms

Exp5, 2410004H11Rik, 2700038C24Rik

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2259 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

46513737-46554524 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 46551822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1050 (Q1050*)

Ref Sequence

ENSEMBL: ENSMUSP00000084257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000087031] [ENSMUST00000124655] [ENSMUST00000142706] [ENSMUST00000173232] [ENSMUST00000173349]

AlphaFold

Q924C1

Predicted Effect

probably benign
Transcript: ENSMUST00000087026

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	339	4.53e-124	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087031
AA Change: Q1050*

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: Q1050*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124655

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	1	253	2.14e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142706

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	255	9.13e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152583

Predicted Effect

probably benign
Transcript: ENSMUST00000173232

SMART Domains

Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L	61	100	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173349

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	42	170	2.3e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174392

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
R2060:Xpo5	UTSW	17	46,536,017 (GRCm39)	missense	probably damaging	1.00
R2258: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'- TTTGTCTGTCCCGCATACAG -3'
(R):5'- TTGGGAAACTTGGTCAGACC -3'

Sequencing Primer
(F):5'- ACTTTGTAGACCAGACTGGC -3'
(R):5'- CTGTCTGTCCCTCAAAATAGAAAGG -3'

Posted On

2014-10-16