Mutagenetix > Incidental Mutation

Incidental Mutation 'R3802:Kpnb1'

274369

Institutional Source

Beutler Lab

Gene Symbol

Kpnb1

Ensembl Gene

ENSMUSG00000001440

Gene Name

karyopherin subunit beta 1

Synonyms

Impnb

MMRRC Submission

040761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97050540-97078707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97056955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 638 (V638E)

Ref Sequence

ENSEMBL: ENSMUSP00000001479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001479]

AlphaFold

P70168

PDB Structure

N-TERMINAL FRAGMENT OF IMPORTIN-BETA [X-RAY DIFFRACTION]
Crystal structure of Importin-beta and SREBP-2 complex [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001479
AA Change: V638E

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: V638E

Domain	Start	End	E-Value	Type
IBN_N	21	101	3.72e-5	SMART
Blast:ARM	158	203	4e-7	BLAST
Pfam:HEAT_EZ	380	435	3e-13	PFAM
Pfam:HEAT	409	439	2.6e-7	PFAM
Blast:ARM	440	477	7e-17	BLAST
low complexity region	478	495	N/A	INTRINSIC
Blast:IBN_N	528	590	9e-25	BLAST
Blast:ARM	594	637	1e-18	BLAST
Blast:ARM	784	827	1e-5	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153727

Meta Mutation Damage Score

0.4585

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (47/47)

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	T	4: 144,430,074 (GRCm39)	L305Q	possibly damaging	Het
Abcc2	C	A	19: 43,810,065 (GRCm39)	N874K	probably benign	Het
Axl	A	T	7: 25,487,902 (GRCm39)	M1K	probably null	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap20dc	G	T	14: 8,510,931 (GRCm38)	D494E	probably benign	Het
Cfap58	G	T	19: 47,941,498 (GRCm39)	D289Y	possibly damaging	Het
Cnn2	A	G	10: 79,829,329 (GRCm39)	D153G	probably benign	Het
Cstdc2	T	C	2: 148,692,616 (GRCm39)	H62R	probably benign	Het
Cubn	T	C	2: 13,365,164 (GRCm39)	I1625V	probably benign	Het
Gprc5b	C	T	7: 118,582,943 (GRCm39)	D309N	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Hhipl1	A	G	12: 108,278,566 (GRCm39)	E298G	probably benign	Het
Hivep2	A	G	10: 14,024,705 (GRCm39)	D2173G	possibly damaging	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Mga	T	A	2: 119,777,820 (GRCm39)	N1788K	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr10	A	G	7: 63,970,376 (GRCm39)	Y373C	probably benign	Het
Ncoa6	C	T	2: 155,247,484 (GRCm39)	G1940D	probably benign	Het
Nelfe	T	A	17: 35,072,877 (GRCm39)	F166L	possibly damaging	Het
Nfatc3	A	G	8: 106,806,277 (GRCm39)	Y374C	probably damaging	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Or51f1d	A	G	7: 102,701,372 (GRCm39)	Y289C	probably benign	Het
Or8g33	G	A	9: 39,337,582 (GRCm39)	P262S	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Papolg	A	T	11: 23,826,449 (GRCm39)	I235N	probably damaging	Het
Pdgfrl	T	C	8: 41,438,594 (GRCm39)	S177P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Sgk1	T	C	10: 21,873,311 (GRCm39)	V259A	probably damaging	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Smco1	A	G	16: 32,092,716 (GRCm39)	Y129C	probably benign	Het
Tas2r106	C	A	6: 131,655,329 (GRCm39)	S174I	probably benign	Het
Tektl1	A	C	10: 78,584,314 (GRCm39)	F367C	probably damaging	Het
Tsn	A	T	1: 118,233,026 (GRCm39)	F93I	probably damaging	Het
Vav2	T	C	2: 27,157,235 (GRCm39)		probably benign	Het
Vmn2r63	A	T	7: 42,552,829 (GRCm39)	M809K	probably damaging	Het
Zfp260	G	A	7: 29,804,504 (GRCm39)	E135K	probably benign	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	Het

Other mutations in Kpnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Kpnb1	APN	11	97,056,928 (GRCm39)	missense	probably damaging	1.00
IGL01919:Kpnb1	APN	11	97,055,556 (GRCm39)	missense	probably benign
IGL02161:Kpnb1	APN	11	97,059,762 (GRCm39)	missense	probably benign	0.01
IGL02679:Kpnb1	APN	11	97,068,086 (GRCm39)	missense	possibly damaging	0.92
IGL02866:Kpnb1	APN	11	97,068,112 (GRCm39)	missense	probably damaging	0.99
IGL02899:Kpnb1	APN	11	97,066,612 (GRCm39)	missense	probably damaging	1.00
R0373:Kpnb1	UTSW	11	97,075,916 (GRCm39)	missense	probably damaging	1.00
R0542:Kpnb1	UTSW	11	97,078,398 (GRCm39)	missense	probably benign	0.12
R0724:Kpnb1	UTSW	11	97,069,130 (GRCm39)	missense	probably damaging	1.00
R0825:Kpnb1	UTSW	11	97,062,501 (GRCm39)	missense	probably damaging	0.98
R0853:Kpnb1	UTSW	11	97,078,237 (GRCm39)	missense	probably damaging	0.97
R1481:Kpnb1	UTSW	11	97,069,136 (GRCm39)	missense	probably damaging	1.00
R4458:Kpnb1	UTSW	11	97,059,996 (GRCm39)	missense	probably damaging	1.00
R4490:Kpnb1	UTSW	11	97,062,424 (GRCm39)	missense	probably benign
R4757:Kpnb1	UTSW	11	97,068,160 (GRCm39)	missense	possibly damaging	0.65
R5500:Kpnb1	UTSW	11	97,063,937 (GRCm39)	missense	possibly damaging	0.94
R6360:Kpnb1	UTSW	11	97,064,096 (GRCm39)	missense	probably benign
R6494:Kpnb1	UTSW	11	97,072,474 (GRCm39)	missense	probably benign	0.04
R7678:Kpnb1	UTSW	11	97,059,999 (GRCm39)	missense	probably damaging	1.00
R8171:Kpnb1	UTSW	11	97,066,573 (GRCm39)	critical splice donor site	probably null
R8874:Kpnb1	UTSW	11	97,056,209 (GRCm39)	missense	probably benign	0.25
R9318:Kpnb1	UTSW	11	97,054,284 (GRCm39)	missense	probably benign
R9621:Kpnb1	UTSW	11	97,058,460 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACAGAGCATGATTCTGAGGTGTG -3'
(R):5'- CTCGTTCTGAGGAGCATTGG -3'

Sequencing Primer
(F):5'- GATGCAGCTCAGCGTCTACATC -3'
(R):5'- GACCATTTGAATGCCTCC -3'

Posted On

2015-04-02