Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01929:Xpo5'

180388

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 #

IGL01929

Quality Score

Status

Chromosome

Chromosomal Location

46513737-46554524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46513855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 3 (M3I)

Ref Sequence

ENSEMBL: ENSMUSP00000084257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024749] [ENSMUST00000087031]

AlphaFold

Q924C1

Predicted Effect

probably benign
Transcript: ENSMUST00000024749

SMART Domains

Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953

Domain	Start	End	E-Value	Type
Pfam:IMS	12	227	9.7e-53	PFAM
Pfam:IMS_C	308	435	5.8e-15	PFAM
low complexity region	515	529	N/A	INTRINSIC
low complexity region	540	561	N/A	INTRINSIC
PDB:2I5O\|A	606	643	7e-15	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000087031
AA Change: M3I

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: M3I

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,251,445 (GRCm39)	P467S	probably benign	Het
Areg	T	C	5: 91,292,312 (GRCm39)	I204T	probably benign	Het
Dnah3	A	T	7: 119,550,874 (GRCm39)	Y3137*	probably null	Het
Dnajc10	T	G	2: 80,158,420 (GRCm39)	C270W	probably damaging	Het
Epc1	A	G	18: 6,449,217 (GRCm39)	F427L	possibly damaging	Het
Fcgbp	A	T	7: 27,803,388 (GRCm39)	D1664V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6686	G	A	17: 15,786,577 (GRCm39)		probably benign	Het
Grik4	C	A	9: 42,477,594 (GRCm39)		probably null	Het
H2-Oa	G	A	17: 34,313,056 (GRCm39)		probably null	Het
Iigp1c	A	G	18: 60,379,554 (GRCm39)	E363G	probably benign	Het
Il20ra	T	G	10: 19,635,019 (GRCm39)	L420R	probably benign	Het
Kcnk2	A	G	1: 189,072,227 (GRCm39)	S34P	probably damaging	Het
Klc4	A	G	17: 46,955,173 (GRCm39)		probably null	Het
Large1	T	C	8: 73,585,903 (GRCm39)	Y401C	probably damaging	Het
Lrrc59	T	C	11: 94,534,342 (GRCm39)	V300A	possibly damaging	Het
Myom2	T	A	8: 15,167,698 (GRCm39)	D1094E	probably damaging	Het
Nfrkb	T	A	9: 31,331,169 (GRCm39)	I1230N	possibly damaging	Het
Or55b3	A	G	7: 102,126,373 (GRCm39)	S235P	possibly damaging	Het
Prr14l	T	C	5: 32,985,587 (GRCm39)	T146A	probably benign	Het
Psmd5	A	G	2: 34,753,478 (GRCm39)	V221A	probably damaging	Het
Ptchd4	A	T	17: 42,814,213 (GRCm39)	T705S	probably benign	Het
Ptprm	G	A	17: 66,997,544 (GRCm39)	A1184V	probably damaging	Het
Rb1cc1	G	T	1: 6,310,383 (GRCm39)	K260N	possibly damaging	Het
Rbm28	T	A	6: 29,128,584 (GRCm39)	D46V	possibly damaging	Het
Sdk1	T	C	5: 141,938,785 (GRCm39)	Y403H	probably damaging	Het
Slco3a1	A	G	7: 73,968,353 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,231 (GRCm39)	K803*	probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r130	A	T	17: 23,295,851 (GRCm39)	I674F	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,545 (GRCm39)	D176V	probably damaging	Het
Wdr70	A	T	15: 7,950,115 (GRCm39)		probably null	Het
Xdh	A	T	17: 74,241,850 (GRCm39)	C150S	probably 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
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

2014-05-07