Mutagenetix > Incidental Mutation

Incidental Mutation 'R5579:Ipo5'

438320

Institutional Source

Beutler Lab

Gene Symbol

Ipo5

Ensembl Gene

ENSMUSG00000030662

Gene Name

importin 5

Synonyms

Ranbp5, Kpnb3, 5730478E03Rik, IMB3, 1110011C18Rik

MMRRC Submission

043267-MU

Accession Numbers

Genbank: NM_023579; MGI: 1917822

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R5579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120911224-120947999 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120938613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 617 (K617E)

Ref Sequence

ENSEMBL: ENSMUSP00000032898 (fasta)

Gene Model

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

AlphaFold

Q8BKC5

Predicted Effect

probably benign
Transcript: ENSMUST00000032898
AA Change: K617E

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: K617E

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

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,700,275	S345P	probably benign	Het
6430573F11Rik	T	C	8: 36,512,041	V266A	probably benign	Het
Abca3	G	T	17: 24,376,729	C352F	probably damaging	Het
Abce1	A	T	8: 79,700,586	I237N	possibly damaging	Het
Acrbp	A	G	6: 125,061,099	D421G	probably benign	Het
Adam8	T	A	7: 139,988,984	Y201F	probably benign	Het
Adgrf1	T	A	17: 43,311,064	C731S	probably damaging	Het
AF067063	T	A	13: 119,828,415	M82L	probably benign	Het
Akap8l	A	T	17: 32,321,942	I529N	probably damaging	Het
Akap9	G	A	5: 4,064,714	G114D	possibly damaging	Het
Alox12b	T	A	11: 69,162,932	D158E	probably benign	Het
Ankrd11	A	G	8: 122,884,231	S2639P	probably damaging	Het
Ankrd42	T	C	7: 92,590,182	Y466C	possibly damaging	Het
Apobr	T	C	7: 126,587,675	I786T	probably benign	Het
Arhgef12	C	T	9: 43,010,193	G329R	probably benign	Het
Btnl1	T	C	17: 34,381,552		probably null	Het
Ccdc174	A	G	6: 91,881,350		probably null	Het
Ccdc183	T	C	2: 25,615,422	D177G	possibly damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cep162	G	A	9: 87,203,671	A1200V	probably benign	Het
Clic3	T	C	2: 25,458,307	L128P	probably damaging	Het
Cntnap5b	A	T	1: 100,383,395	R538*	probably null	Het
Cntnap5b	A	T	1: 100,383,399	Q539L	probably benign	Het
Coq7	A	T	7: 118,517,335	N214K	unknown	Het
Cramp1l	G	A	17: 24,973,113	H1018Y	possibly damaging	Het
Crtac1	T	A	19: 42,304,806	D288V	probably damaging	Het
Dab2ip	C	T	2: 35,715,327	R132*	probably null	Het
Dis3l	C	A	9: 64,330,835	C125F	probably benign	Het
Dnmt1	A	T	9: 20,920,205	V543D	probably damaging	Het
Dock9	A	T	14: 121,599,695	L67Q	probably damaging	Het
Ehbp1	A	T	11: 22,137,846	S413T	probably damaging	Het
Endov	A	G	11: 119,505,097	I158V	probably benign	Het
Epb41l4b	A	G	4: 57,064,802	V469A	possibly damaging	Het
Etf1	G	A	18: 34,913,601	P119S	probably damaging	Het
Fam135a	A	G	1: 24,029,727	L491P	possibly damaging	Het
Fancd2	A	T	6: 113,560,051		probably null	Het
Fank1	T	A	7: 133,869,329		probably null	Het
Fbxo18	A	G	2: 11,748,993	I846T	probably damaging	Het
Gas2l3	T	C	10: 89,414,066	T397A	probably benign	Het
Gga1	T	C	15: 78,893,188	V513A	probably damaging	Het
Ggt1	T	C	10: 75,585,948	V543A	probably damaging	Het
Gm11596	A	T	11: 99,792,891	C134*	probably null	Het
Gnal	C	T	18: 67,088,771	R82C	unknown	Het
Hat1	T	C	2: 71,410,238	V92A	possibly damaging	Het
Icosl	C	T	10: 78,073,763	R181C	probably damaging	Het
Ift46	A	G	9: 44,786,863	M208V	possibly damaging	Het
Ighv1-26	T	C	12: 114,788,599	K42E	possibly damaging	Het
Irx5	A	G	8: 92,359,913	D208G	probably benign	Het
Itgal	T	G	7: 127,306,929	V397G	probably benign	Het
Itpr2	G	A	6: 146,173,366	R2297*	probably null	Het
Itpr3	A	G	17: 27,113,519	D1779G	probably damaging	Het
Krt4	T	A	15: 101,921,234	E286D	probably benign	Het
Loxl4	C	T	19: 42,604,290	G317E	probably damaging	Het
Mapk6	T	G	9: 75,388,062	H718P	possibly damaging	Het
Mark2	A	C	19: 7,282,816	V14G	probably damaging	Het
Mbd5	A	G	2: 49,272,814	T1103A	possibly damaging	Het
Mcph1	A	G	8: 18,632,293	E482G	probably benign	Het
Mme	G	A	3: 63,348,645	E509K	probably damaging	Het
Mrgbp	A	G	2: 180,585,483	T204A	probably damaging	Het
Mycbp2	A	T	14: 103,291,333	F430I	probably damaging	Het
Myo6	A	G	9: 80,217,720	D27G	probably damaging	Het
Ncoa6	A	G	2: 155,406,677	L1569S	probably damaging	Het
Ndc1	T	A	4: 107,380,704	F235Y	possibly damaging	Het
Nmur2	A	T	11: 56,033,009	S240T	probably benign	Het
Olfr1176	A	T	2: 88,340,413	I283F	possibly damaging	Het
Olfr301	T	A	7: 86,412,726	Y121*	probably null	Het
Olfr608	G	A	7: 103,470,914	V292M	probably damaging	Het
Osbpl1a	G	T	18: 12,841,192	A62E	probably damaging	Het
Osbpl1a	A	C	18: 12,892,262	S333A	probably benign	Het
Otud4	C	T	8: 79,664,108	T417I	probably benign	Het
Pagr1a	T	C	7: 127,015,442	E197G	probably damaging	Het
Pcdh18	T	C	3: 49,744,977	Q1012R	probably damaging	Het
Pcdhgb5	A	C	18: 37,731,637	I162L	probably benign	Het
Pdpr	T	A	8: 111,123,816	Y462N	probably damaging	Het
Pkhd1	A	T	1: 20,523,142	H1582Q	probably damaging	Het
Polr1b	A	G	2: 129,110,108	K352R	probably damaging	Het
Poteg	G	A	8: 27,448,037	V12M	probably damaging	Het
Pou2f1	A	C	1: 165,915,162	V54G	probably damaging	Het
Ppme1	A	G	7: 100,344,975	L177P	probably damaging	Het
Prkce	A	G	17: 86,619,948	D550G	probably damaging	Het
Prrc2c	A	G	1: 162,680,758		probably null	Het
Ptpn22	A	G	3: 103,882,139		probably null	Het
Rabif	G	A	1: 134,506,205	V86M	probably damaging	Het
Rbm25	T	A	12: 83,668,507	M484K	probably benign	Het
Rcn2	G	A	9: 56,057,429	A224T	probably benign	Het
Rexo5	T	A	7: 119,834,403		probably null	Het
Rnase1	A	T	14: 51,145,762	I45N	probably benign	Het
Rnmt	T	A	18: 68,306,115	D98E	possibly damaging	Het
Rprd2	A	G	3: 95,785,059	F188L	probably damaging	Het
Scube2	G	A	7: 109,810,737	T643M	probably damaging	Het
Slc7a15	T	C	12: 8,539,344	I68V	probably benign	Het
Slco1a5	A	T	6: 142,242,125	V496D	possibly damaging	Het
Slitrk6	T	G	14: 110,751,217	S353R	possibly damaging	Het
Smpd5	T	A	15: 76,295,125	I53K	possibly damaging	Het
Tas2r108	T	C	6: 40,494,087	S166P	probably benign	Het
Tecpr1	C	A	5: 144,214,344	V245L	possibly damaging	Het
Tenm3	G	T	8: 48,236,764	N1929K	probably damaging	Het
Tigd5	T	G	15: 75,911,025	F412C	probably damaging	Het
Timm17a	A	T	1: 135,306,188	S74T	possibly damaging	Het
Tle1	A	T	4: 72,139,808	L60Q	probably damaging	Het
Tmem132d	T	C	5: 127,796,000	E515G	possibly damaging	Het
Tmem65	T	C	15: 58,794,397	N115S	probably benign	Het
Trmt5	C	A	12: 73,281,652	R259L	possibly damaging	Het
Ttc37	T	C	13: 76,185,200	W25R	probably damaging	Het
Vmn2r50	A	T	7: 10,050,089	W153R	probably benign	Het
Vwa3a	T	G	7: 120,768,173	S184A	probably benign	Het
Zbtb25	A	G	12: 76,349,164	L428P	possibly damaging	Het
Zbtb49	C	T	5: 38,200,816	D698N	probably damaging	Het
Zbtb8os	T	G	4: 129,340,735	D35E	probably damaging	Het
Zfp316	T	C	5: 143,264,491	T56A	unknown	Het
Zfp334	A	T	2: 165,380,487	C545*	probably null	Het
Zmiz1	C	A	14: 25,644,856	S247R	probably damaging	Het
Zscan18	A	G	7: 12,775,381		probably benign	Het
Zzef1	T	C	11: 72,900,637	V2189A	probably damaging	Het

Other mutations in Ipo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01461:Ipo5	APN	14	120928533	missense	probably damaging	0.98
IGL01614:Ipo5	APN	14	120935095	missense	probably benign	0.01
IGL01835:Ipo5	APN	14	120926238	missense	probably benign	0.24
IGL02010:Ipo5	APN	14	120933377	missense	probably benign	0.20
IGL02303:Ipo5	APN	14	120917383	missense	probably benign
IGL02344:Ipo5	APN	14	120942779	splice site	probably benign
IGL02657:Ipo5	APN	14	120943800	missense	possibly damaging	0.47
IGL03094:Ipo5	APN	14	120943677	splice site	probably benign
IGL03158:Ipo5	APN	14	120941891	splice site	probably benign
IGL03309:Ipo5	APN	14	120920004	missense	probably benign
IGL03392:Ipo5	APN	14	120942687	missense	probably damaging	0.99
3-1:Ipo5	UTSW	14	120932936	missense	probably benign	0.41
PIT4544001:Ipo5	UTSW	14	120928537	missense	probably damaging	0.99
R0326:Ipo5	UTSW	14	120922223	missense	probably benign	0.19
R0505:Ipo5	UTSW	14	120942733	missense	possibly damaging	0.74
R0559:Ipo5	UTSW	14	120938641	missense	probably damaging	1.00
R0590:Ipo5	UTSW	14	120944357	missense	possibly damaging	0.76
R0969:Ipo5	UTSW	14	120944525	missense	possibly damaging	0.64
R1450:Ipo5	UTSW	14	120944393	missense	probably benign	0.04
R1672:Ipo5	UTSW	14	120933302	missense	probably damaging	1.00
R2471:Ipo5	UTSW	14	120922162	missense	probably benign	0.12
R3508:Ipo5	UTSW	14	120939544	missense	probably damaging	1.00
R3696:Ipo5	UTSW	14	120922162	missense	probably benign	0.12
R4118:Ipo5	UTSW	14	120938661	missense	probably benign	0.04
R4418:Ipo5	UTSW	14	120943893	missense	possibly damaging	0.81
R4760:Ipo5	UTSW	14	120941642	missense	probably benign	0.02
R4839:Ipo5	UTSW	14	120920038	missense	probably benign	0.00
R4913:Ipo5	UTSW	14	120935086	missense	probably damaging	1.00
R5326:Ipo5	UTSW	14	120926271	missense	probably benign
R5339:Ipo5	UTSW	14	120943710	missense	probably damaging	1.00
R5483:Ipo5	UTSW	14	120920038	missense	probably benign	0.06
R5542:Ipo5	UTSW	14	120926271	missense	probably benign
R5954:Ipo5	UTSW	14	120919984	missense	probably damaging	1.00
R6948:Ipo5	UTSW	14	120923115	missense	probably benign	0.00
R7365:Ipo5	UTSW	14	120920085	missense	probably benign
R7563:Ipo5	UTSW	14	120946155	missense	probably benign	0.00
R7782:Ipo5	UTSW	14	120933125	missense	possibly damaging	0.95
R7911:Ipo5	UTSW	14	120929639	splice site	probably null
R8222:Ipo5	UTSW	14	120920002	missense	probably benign	0.00
R8238:Ipo5	UTSW	14	120935240	missense	probably damaging	1.00
R8483:Ipo5	UTSW	14	120946148	missense	probably benign
R8826:Ipo5	UTSW	14	120919954	missense	probably damaging	1.00
R9042:Ipo5	UTSW	14	120923135	missense	probably benign	0.01
W0251:Ipo5	UTSW	14	120938785	missense	probably benign	0.17
X0062:Ipo5	UTSW	14	120941671	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCAGCTCCATTGGGAATGTTTG -3'
(R):5'- GGTTCACAAATTCCCAACCGTC -3'

Sequencing Primer
(F):5'- CTCCATTGGGAATGTTTGGAGTG -3'
(R):5'- ATATTCTCCATGTCCTGGGCTAG -3'

Posted On

2016-10-26