Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Kpnb1'

164391

Institutional Source

Beutler Lab

Gene Symbol

Kpnb1

Ensembl Gene

ENSMUSG00000001440

Gene Name

karyopherin (importin) beta 1

Synonyms

Impnb

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97159714-97187881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97178310 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 249 (Y249C)

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

probably damaging
Transcript: ENSMUST00000001479
AA Change: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: Y249C

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

Meta Mutation Damage Score

0.7123

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434 (GRCm38)	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634 (GRCm38)	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470 (GRCm38)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948 (GRCm38)		probably benign	Het
Ccdc178	C	T	18: 22,105,621 (GRCm38)	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633 (GRCm38)	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385 (GRCm38)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262 (GRCm38)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663 (GRCm38)	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060 (GRCm38)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882 (GRCm38)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810 (GRCm38)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588 (GRCm38)	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877 (GRCm38)	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866 (GRCm38)		probably null	Het
Dock6	T	C	9: 21,820,622 (GRCm38)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643 (GRCm38)	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517 (GRCm38)	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782 (GRCm38)	*1207W	probably null	Het
Eln	T	C	5: 134,706,572 (GRCm38)	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647 (GRCm38)	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741 (GRCm38)	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717 (GRCm38)	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654 (GRCm38)	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850 (GRCm38)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227 (GRCm38)		probably benign	Het
Gpr37	T	C	6: 25,669,138 (GRCm38)	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089 (GRCm38)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138 (GRCm38)		probably null	Het
Kcnc4	C	T	3: 107,448,218 (GRCm38)	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275 (GRCm38)	F724L	probably benign	Het
Krt6b	T	C	15: 101,678,374 (GRCm38)	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634 (GRCm38)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857 (GRCm38)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171 (GRCm38)	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703 (GRCm38)	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999 (GRCm38)	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178 (GRCm38)	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509 (GRCm38)	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499 (GRCm38)		probably benign	Het
Ncor2	C	A	5: 125,027,138 (GRCm38)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm38)	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369 (GRCm38)	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481 (GRCm38)	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960 (GRCm38)	T212I	probably benign	Het
Olfr713	T	G	7: 107,036,149 (GRCm38)	L5R	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm38)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836 (GRCm38)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548 (GRCm38)	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314 (GRCm38)	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993 (GRCm38)	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402 (GRCm38)	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034 (GRCm38)	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377 (GRCm38)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522 (GRCm38)		probably benign	Het
Samd4b	C	T	7: 28,414,010 (GRCm38)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301 (GRCm38)	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730 (GRCm38)	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763 (GRCm38)		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602 (GRCm38)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471 (GRCm38)	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759 (GRCm38)	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130 (GRCm38)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616 (GRCm38)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712 (GRCm38)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228 (GRCm38)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790 (GRCm38)	T259A	probably benign	Het

Other mutations in Kpnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Kpnb1	APN	11	97,166,102 (GRCm38)	missense	probably damaging	1.00
IGL01919:Kpnb1	APN	11	97,164,730 (GRCm38)	missense	probably benign
IGL02161:Kpnb1	APN	11	97,168,936 (GRCm38)	missense	probably benign	0.01
IGL02679:Kpnb1	APN	11	97,177,260 (GRCm38)	missense	possibly damaging	0.92
IGL02866:Kpnb1	APN	11	97,177,286 (GRCm38)	missense	probably damaging	0.99
IGL02899:Kpnb1	APN	11	97,175,786 (GRCm38)	missense	probably damaging	1.00
R0373:Kpnb1	UTSW	11	97,185,090 (GRCm38)	missense	probably damaging	1.00
R0542:Kpnb1	UTSW	11	97,187,572 (GRCm38)	missense	probably benign	0.12
R0724:Kpnb1	UTSW	11	97,178,304 (GRCm38)	missense	probably damaging	1.00
R0825:Kpnb1	UTSW	11	97,171,675 (GRCm38)	missense	probably damaging	0.98
R0853:Kpnb1	UTSW	11	97,187,411 (GRCm38)	missense	probably damaging	0.97
R3802:Kpnb1	UTSW	11	97,166,129 (GRCm38)	missense	possibly damaging	0.92
R4458:Kpnb1	UTSW	11	97,169,170 (GRCm38)	missense	probably damaging	1.00
R4490:Kpnb1	UTSW	11	97,171,598 (GRCm38)	missense	probably benign
R4757:Kpnb1	UTSW	11	97,177,334 (GRCm38)	missense	possibly damaging	0.65
R5500:Kpnb1	UTSW	11	97,173,111 (GRCm38)	missense	possibly damaging	0.94
R6360:Kpnb1	UTSW	11	97,173,270 (GRCm38)	missense	probably benign
R6494:Kpnb1	UTSW	11	97,181,648 (GRCm38)	missense	probably benign	0.04
R7678:Kpnb1	UTSW	11	97,169,173 (GRCm38)	missense	probably damaging	1.00
R8171:Kpnb1	UTSW	11	97,175,747 (GRCm38)	critical splice donor site	probably null
R8874:Kpnb1	UTSW	11	97,165,383 (GRCm38)	missense	probably benign	0.25
R9318:Kpnb1	UTSW	11	97,163,458 (GRCm38)	missense	probably benign
R9621:Kpnb1	UTSW	11	97,167,634 (GRCm38)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CCAAAGAAAGCAGACATCTTCTTGGCA -3'
(R):5'- GGGTAGCACCAGTAGGTTTAACCCTTC -3'

Sequencing Primer
(F):5'- ccattcatcaggggactcac -3'
(R):5'- CTCATGGTACATGGAGGGGG -3'

Posted On

2014-03-28