Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03296:Xpo5'

416074

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xpo5

Ensembl Gene

ENSMUSG00000067150

Gene Name

exportin 5

Synonyms

Exp5, 2410004H11Rik, 2700038C24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03296

Quality Score

Status

Chromosome

Chromosomal Location

46513737-46554524 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 46532320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 452 (R452*)

Ref Sequence

ENSEMBL: ENSMUSP00000084257 (fasta)

Gene Model

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

AlphaFold

Q924C1

Predicted Effect

probably null
Transcript: ENSMUST00000087031
AA Change: R452*

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: R452*

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	C	17: 43,632,044 (GRCm39)		probably benign	Het
Arhgef26	A	G	3: 62,330,926 (GRCm39)	T547A	probably damaging	Het
Cdc14a	T	A	3: 116,090,807 (GRCm39)	H375L	probably benign	Het
Ddx43	T	C	9: 78,306,380 (GRCm39)		probably null	Het
Dennd6a	T	C	14: 26,338,115 (GRCm39)		probably null	Het
Dock4	A	T	12: 40,783,256 (GRCm39)	E730V	possibly damaging	Het
Gpr55	A	G	1: 85,868,753 (GRCm39)	L276S	probably damaging	Het
Grid1	T	C	14: 35,302,524 (GRCm39)	F930L	possibly damaging	Het
Inf2	C	T	12: 112,570,642 (GRCm39)	Q394*	probably null	Het
Ints11	T	C	4: 155,969,780 (GRCm39)		probably null	Het
Kcnd2	T	C	6: 21,714,208 (GRCm39)	V397A	probably damaging	Het
Lmntd1	A	G	6: 145,359,203 (GRCm39)	F316L	probably benign	Het
Loxl4	A	T	19: 42,587,262 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mindy4	T	C	6: 55,274,738 (GRCm39)		probably null	Het
Mybpc2	A	T	7: 44,156,308 (GRCm39)	I835N	probably damaging	Het
Myo5a	T	C	9: 75,023,484 (GRCm39)	I15T	probably damaging	Het
Nfkb2	A	T	19: 46,298,367 (GRCm39)	D557V	probably damaging	Het
Or11g27	A	T	14: 50,771,402 (GRCm39)	I178L	possibly damaging	Het
Pdk3	T	C	X: 92,875,503 (GRCm39)	Y19C	probably damaging	Het
Pdpr	G	T	8: 111,841,430 (GRCm39)	V221F	probably damaging	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rars1	A	T	11: 35,707,523 (GRCm39)	Y429*	probably null	Het
Rsl24d1	T	C	9: 73,025,229 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,151,852 (GRCm39)	F49S	probably damaging	Het
St14	C	T	9: 31,020,008 (GRCm39)	E34K	probably damaging	Het
Tcp10b	A	G	17: 13,292,443 (GRCm39)	T289A	probably damaging	Het
Tenm2	T	C	11: 35,942,852 (GRCm39)		probably null	Het
Tshz3	A	T	7: 36,470,761 (GRCm39)	T917S	probably damaging	Het
Vrtn	T	A	12: 84,695,622 (GRCm39)	I124N	probably damaging	Het
Vwa8	A	G	14: 79,420,540 (GRCm39)	E1747G	probably damaging	Het
Wdr33	A	T	18: 31,960,444 (GRCm39)	Q36L	probably benign	Het
Zdhhc8	A	T	16: 18,044,587 (GRCm39)	L311Q	possibly damaging	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
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
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

Posted On

2016-08-02