Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Ipo5'

436060

Institutional Source

Beutler Lab

Gene Symbol

Ipo5

Ensembl Gene

ENSMUSG00000030662

Gene Name

importin 5

Synonyms

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

MMRRC Submission

043100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121148636-121185411 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121163683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000032898 (fasta)

Gene Model

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

AlphaFold

Q8BKC5

Predicted Effect

probably benign
Transcript: ENSMUST00000032898
AA Change: V247A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: V247A

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: ENSMUST00000227270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228277

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Acacb	C	T	5: 114,333,798 (GRCm39)	R574C	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,646 (GRCm39)	Q226*	probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Cdh4	T	A	2: 179,502,019 (GRCm39)	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo7	A	C	10: 85,869,149 (GRCm39)	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Fuom	A	T	7: 139,680,025 (GRCm39)	*109R	probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighm	A	G	12: 113,382,601 (GRCm39)		probably benign	Het
Ighv1-85	T	A	12: 115,963,847 (GRCm39)	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,574,833 (GRCm39)	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,760,187 (GRCm39)	M1L	probably benign	Het
Itga9	T	C	9: 118,672,729 (GRCm39)	F154L	possibly damaging	Het
Itprid1	C	A	6: 55,955,380 (GRCm39)	P996Q	probably damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Marveld3	A	T	8: 110,675,249 (GRCm39)	I189K	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,691,354 (GRCm39)		probably benign	Het
Muc21	T	C	17: 35,933,395 (GRCm39)		probably benign	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,316,353 (GRCm39)	D1852G	probably benign	Het
Ndc80	A	T	17: 71,807,276 (GRCm39)	V560D	probably benign	Het
Nscme3l	A	T	19: 5,553,463 (GRCm39)	V106D	probably damaging	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56a3	A	T	7: 104,735,565 (GRCm39)	D214V	probably damaging	Het
Or6a2	A	T	7: 106,600,286 (GRCm39)	S260R	probably damaging	Het
Or9i1b	T	C	19: 13,896,411 (GRCm39)	V9A	probably benign	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Plxna4	T	A	6: 32,183,165 (GRCm39)	I913F	probably damaging	Het
Psmc1	T	C	12: 100,086,399 (GRCm39)		probably null	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Safb2	G	A	17: 56,882,647 (GRCm39)	R329C	probably damaging	Het
Septin14	T	C	5: 129,774,926 (GRCm39)	H83R	probably damaging	Het
Slc16a10	A	G	10: 39,952,784 (GRCm39)	F237L	probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Sned1	T	C	1: 93,199,324 (GRCm39)	I468T	probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trip12	A	T	1: 84,727,065 (GRCm39)	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Ubqlnl	G	A	7: 103,798,904 (GRCm39)	Q198*	probably null	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Usp46	A	T	5: 74,189,902 (GRCm39)	M43K	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,285,108 (GRCm39)	T276I	probably benign	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zfp12	C	T	5: 143,230,240 (GRCm39)	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,739,140 (GRCm39)	F1042L	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
IGL03158:Ipo5	APN	14	121,179,303 (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
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

Predicted Primers

PCR Primer
(F):5'- ATTCTCTTAACTCCGGGTAGCAC -3'
(R):5'- TCACTTCAAGGGCAAGCTGG -3'

Sequencing Primer
(F):5'- AACTCCGGGTAGCACATTTG -3'
(R):5'- AGCTGGCGCTGCATATTATTGAG -3'

Posted On

2016-10-24