Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03158:Ipo5'

411339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo5

Ensembl Gene

ENSMUSG00000030662

Gene Name

importin 5

Synonyms

1110011C18Rik, RanBP5, Kpnb3, importin beta 3, IMB3, 5730478E03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL03158

Quality Score

Status

Chromosome

Chromosomal Location

121148636-121185411 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 121179303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032898]

AlphaFold

Q8BKC5

Predicted Effect

probably benign
Transcript: ENSMUST00000032898

SMART Domains

Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662

Domain	Start	End	E-Value	Type
low complexity region	65	72	N/A	INTRINSIC
Pfam:HEAT_2	359	467	3.3e-13	PFAM
Pfam:HEAT_EZ	372	426	3.7e-10	PFAM
Pfam:Vac14_Fab1_bd	373	430	3.8e-9	PFAM
Pfam:HEAT	400	430	4.2e-7	PFAM
Pfam:HEAT	906	936	4.2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228277

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(33) : Targeted, other(2) Gene trapped(31)

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	T	C	5: 122,955,960 (GRCm39)	T157A	probably benign	Het
Brms1l	A	G	12: 55,883,320 (GRCm39)	E11G	possibly damaging	Het
C2cd3	A	G	7: 100,023,683 (GRCm39)	T90A	probably damaging	Het
Eml5	A	T	12: 98,793,773 (GRCm39)		probably benign	Het
Fgl1	A	T	8: 41,662,810 (GRCm39)	H58Q	probably benign	Het
Lyst	T	C	13: 13,826,337 (GRCm39)		probably null	Het
Map1s	T	C	8: 71,367,378 (GRCm39)	L761P	probably damaging	Het
Mup21	T	C	4: 62,068,525 (GRCm39)	E47G	probably benign	Het
Mup6	T	A	4: 60,005,480 (GRCm39)	F104I	possibly damaging	Het
Or5w12	G	A	2: 87,502,135 (GRCm39)	T192I	probably benign	Het
Or6c3b	T	A	10: 129,527,587 (GRCm39)	T108S	probably benign	Het
Pdcd11	A	T	19: 47,116,500 (GRCm39)	D1550V	possibly damaging	Het
Prex2	C	A	1: 11,336,291 (GRCm39)	S1496R	possibly damaging	Het
Prpf4	A	G	4: 62,334,256 (GRCm39)	H237R	probably benign	Het
Pygl	G	T	12: 70,242,449 (GRCm39)	T578K	probably damaging	Het
Rem2	A	G	14: 54,716,415 (GRCm39)	D176G	probably benign	Het
Unc80	T	C	1: 66,680,833 (GRCm39)	V2143A	probably benign	Het
Wdr4	T	C	17: 31,718,102 (GRCm39)	Q324R	probably benign	Het

Other mutations in Ipo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Ipo5	APN	14	121,165,945 (GRCm39)	missense	probably damaging	0.98
IGL01614:Ipo5	APN	14	121,172,507 (GRCm39)	missense	probably benign	0.01
IGL01835:Ipo5	APN	14	121,163,650 (GRCm39)	missense	probably benign	0.24
IGL02010:Ipo5	APN	14	121,170,789 (GRCm39)	missense	probably benign	0.20
IGL02303:Ipo5	APN	14	121,154,795 (GRCm39)	missense	probably benign
IGL02344:Ipo5	APN	14	121,180,191 (GRCm39)	splice site	probably benign
IGL02657:Ipo5	APN	14	121,181,212 (GRCm39)	missense	possibly damaging	0.47
IGL03094:Ipo5	APN	14	121,181,089 (GRCm39)	splice site	probably benign
IGL03309:Ipo5	APN	14	121,157,416 (GRCm39)	missense	probably benign
IGL03392:Ipo5	APN	14	121,180,099 (GRCm39)	missense	probably damaging	0.99
3-1:Ipo5	UTSW	14	121,170,348 (GRCm39)	missense	probably benign	0.41
PIT4544001:Ipo5	UTSW	14	121,165,949 (GRCm39)	missense	probably damaging	0.99
R0326:Ipo5	UTSW	14	121,159,635 (GRCm39)	missense	probably benign	0.19
R0505:Ipo5	UTSW	14	121,180,145 (GRCm39)	missense	possibly damaging	0.74
R0559:Ipo5	UTSW	14	121,176,053 (GRCm39)	missense	probably damaging	1.00
R0590:Ipo5	UTSW	14	121,181,769 (GRCm39)	missense	possibly damaging	0.76
R0969:Ipo5	UTSW	14	121,181,937 (GRCm39)	missense	possibly damaging	0.64
R1450:Ipo5	UTSW	14	121,181,805 (GRCm39)	missense	probably benign	0.04
R1672:Ipo5	UTSW	14	121,170,714 (GRCm39)	missense	probably damaging	1.00
R2471:Ipo5	UTSW	14	121,159,574 (GRCm39)	missense	probably benign	0.12
R3508:Ipo5	UTSW	14	121,176,956 (GRCm39)	missense	probably damaging	1.00
R3696:Ipo5	UTSW	14	121,159,574 (GRCm39)	missense	probably benign	0.12
R4118:Ipo5	UTSW	14	121,176,073 (GRCm39)	missense	probably benign	0.04
R4418:Ipo5	UTSW	14	121,181,305 (GRCm39)	missense	possibly damaging	0.81
R4760:Ipo5	UTSW	14	121,179,054 (GRCm39)	missense	probably benign	0.02
R4839:Ipo5	UTSW	14	121,157,450 (GRCm39)	missense	probably benign	0.00
R4913:Ipo5	UTSW	14	121,172,498 (GRCm39)	missense	probably damaging	1.00
R5326:Ipo5	UTSW	14	121,163,683 (GRCm39)	missense	probably benign
R5339:Ipo5	UTSW	14	121,181,122 (GRCm39)	missense	probably damaging	1.00
R5483:Ipo5	UTSW	14	121,157,450 (GRCm39)	missense	probably benign	0.06
R5542:Ipo5	UTSW	14	121,163,683 (GRCm39)	missense	probably benign
R5579:Ipo5	UTSW	14	121,176,025 (GRCm39)	missense	probably benign	0.26
R5954:Ipo5	UTSW	14	121,157,396 (GRCm39)	missense	probably damaging	1.00
R6948:Ipo5	UTSW	14	121,160,527 (GRCm39)	missense	probably benign	0.00
R7365:Ipo5	UTSW	14	121,157,497 (GRCm39)	missense	probably benign
R7563:Ipo5	UTSW	14	121,183,567 (GRCm39)	missense	probably benign	0.00
R7782:Ipo5	UTSW	14	121,170,537 (GRCm39)	missense	possibly damaging	0.95
R7911:Ipo5	UTSW	14	121,167,051 (GRCm39)	splice site	probably null
R8222:Ipo5	UTSW	14	121,157,414 (GRCm39)	missense	probably benign	0.00
R8238:Ipo5	UTSW	14	121,172,652 (GRCm39)	missense	probably damaging	1.00
R8483:Ipo5	UTSW	14	121,183,560 (GRCm39)	missense	probably benign
R8826:Ipo5	UTSW	14	121,157,366 (GRCm39)	missense	probably damaging	1.00
R9042:Ipo5	UTSW	14	121,160,547 (GRCm39)	missense	probably benign	0.01
W0251:Ipo5	UTSW	14	121,176,197 (GRCm39)	missense	probably benign	0.17
X0062:Ipo5	UTSW	14	121,179,083 (GRCm39)	missense	probably benign	0.02

Posted On

2016-08-02