Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00341:Xpo5'

3844

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 #

IGL00341

Quality Score

Status

Chromosome

Chromosomal Location

46513737-46554524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46535973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 535 (L535R)

Ref Sequence

ENSEMBL: ENSMUSP00000084257 (fasta)

Gene Model

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

AlphaFold

Q924C1

Predicted Effect

probably damaging
Transcript: ENSMUST00000087031
AA Change: L535R

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

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: L535R

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	T	A	6: 43,257,203 (GRCm39)	Y519*	probably null	Het
Bahcc1	A	G	11: 120,163,130 (GRCm39)	Y476C	probably damaging	Het
Bclaf1	A	T	10: 20,201,745 (GRCm39)	E295D	probably damaging	Het
Bend3	A	G	10: 43,387,539 (GRCm39)	D644G	probably damaging	Het
Ccdc122	G	A	14: 77,329,179 (GRCm39)	M77I	probably benign	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Dnah11	T	C	12: 118,162,480 (GRCm39)	R30G	probably benign	Het
Hoxc4	A	G	15: 102,944,264 (GRCm39)	D214G	probably damaging	Het
Itsn2	A	T	12: 4,708,027 (GRCm39)	T778S	possibly damaging	Het
Kcnn2	A	G	18: 45,810,138 (GRCm39)		probably benign	Het
Krtap5-3	G	T	7: 141,755,612 (GRCm39)		probably benign	Het
Lgr5	G	T	10: 115,290,369 (GRCm39)	Q516K	possibly damaging	Het
Lrpprc	T	C	17: 85,057,953 (GRCm39)	K759R	possibly damaging	Het
Mtfr2	A	G	10: 20,233,394 (GRCm39)	D321G	probably damaging	Het
Nip7	A	G	8: 107,783,802 (GRCm39)	Y45C	possibly damaging	Het
Or4c111	T	C	2: 88,844,268 (GRCm39)	I47V	probably benign	Het
Pak1ip1	A	T	13: 41,161,494 (GRCm39)	T84S	possibly damaging	Het
Ptpn20	C	A	14: 33,344,576 (GRCm39)	R167S	probably benign	Het
Rab4b	C	T	7: 26,872,151 (GRCm39)	G190S	probably damaging	Het
Ropn1l	T	A	15: 31,443,495 (GRCm39)	D179V	probably damaging	Het
Shc2	C	T	10: 79,456,903 (GRCm39)	R571Q	probably damaging	Het
Smad1	A	G	8: 80,083,098 (GRCm39)	V134A	probably damaging	Het
Smad6	A	G	9: 63,861,263 (GRCm39)	V344A	probably damaging	Het
Tet2	A	G	3: 133,193,846 (GRCm39)	L196P	possibly damaging	Het
Tmem64	T	A	4: 15,266,694 (GRCm39)	V248E	probably damaging	Het
Ttc7	C	T	17: 87,670,992 (GRCm39)	T709I	possibly damaging	Het
Usp31	A	G	7: 121,305,893 (GRCm39)	L195P	probably damaging	Het
Vmn2r112	G	A	17: 22,837,917 (GRCm39)	V793I	probably benign	Het
Ythdc2	A	T	18: 44,983,464 (GRCm39)	M544L	probably benign	Het

Other mutations in Xpo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20