Mutagenetix > Incidental Mutation

Incidental Mutation 'R6494:Kpnb1'

522971

Institutional Source

Beutler Lab

Gene Symbol

Kpnb1

Ensembl Gene

ENSMUSG00000001440

Gene Name

karyopherin subunit beta 1

Synonyms

Impnb

MMRRC Submission

044626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6494 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97050540-97078707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97072474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 154 (I154V)

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 benign
Transcript: ENSMUST00000001479
AA Change: I154V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: I154V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	C	7: 27,315,774 (GRCm39)	L52P	possibly damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chic2	T	C	5: 75,204,943 (GRCm39)	E6G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Col5a2	C	A	1: 45,417,487 (GRCm39)	D1363Y	probably damaging	Het
Csmd1	C	T	8: 16,261,709 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,138,591 (GRCm39)	Y211F	probably damaging	Het
Efcab3	A	T	11: 104,990,845 (GRCm39)	Y5460F	possibly damaging	Het
Efcab6	T	A	15: 83,928,523 (GRCm39)		probably null	Het
Eno4	T	A	19: 58,951,226 (GRCm39)	Y237N	probably damaging	Het
Fer1l4	T	A	2: 155,887,390 (GRCm39)	D602V	probably benign	Het
Fgfr2	T	C	7: 129,800,280 (GRCm39)	N337S	probably damaging	Het
Fras1	C	T	5: 96,907,423 (GRCm39)	R3203C	possibly damaging	Het
Gbp2	T	A	3: 142,337,769 (GRCm39)	V295E	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,765,745 (GRCm39)	I366M	possibly damaging	Het
Itsn2	C	T	12: 4,684,792 (GRCm39)	R448*	probably null	Het
Klhl35	G	T	7: 99,122,106 (GRCm39)	W69L	probably damaging	Het
Lax1	T	A	1: 133,608,186 (GRCm39)	Y185F	probably damaging	Het
Mmp12	C	T	9: 7,353,479 (GRCm39)	P208L	probably damaging	Het
Ndufb8	C	T	19: 44,543,744 (GRCm39)	V33M	probably null	Het
Nptn	T	G	9: 58,531,035 (GRCm39)	C169G	probably damaging	Het
Nuggc	A	T	14: 65,885,671 (GRCm39)	E766V	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,520 (GRCm39)	N149I	possibly damaging	Het
Or12e14	A	T	2: 87,187,976 (GRCm39)	K63*	probably null	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pkn2	T	C	3: 142,509,429 (GRCm39)	N721S	possibly damaging	Het
Pole	T	C	5: 110,472,588 (GRCm39)	W1590R	possibly damaging	Het
Prph2	A	G	17: 47,222,007 (GRCm39)	T129A	probably benign	Het
Ptpro	A	T	6: 137,359,640 (GRCm39)	K403N	probably benign	Het
Rbck1	T	C	2: 152,172,886 (GRCm39)	D54G	possibly damaging	Het
Serpinb7	T	A	1: 107,363,076 (GRCm39)	L80*	probably null	Het
Setdb2	T	A	14: 59,639,863 (GRCm39)	Y676F	probably benign	Het
Skint1	G	T	4: 111,867,909 (GRCm39)	C12F	probably benign	Het
Slc22a26	T	A	19: 7,779,651 (GRCm39)	D55V	probably damaging	Het
Slc9a8	G	A	2: 167,266,211 (GRCm39)	V63I	probably damaging	Het
Sox2	T	A	3: 34,705,246 (GRCm39)	S228T	probably benign	Het
Spata31g1	A	G	4: 42,971,924 (GRCm39)	N419S	possibly damaging	Het
Spg11	A	G	2: 121,943,706 (GRCm39)	S149P	probably damaging	Het
Tbc1d19	T	A	5: 53,986,725 (GRCm39)	S45T	probably benign	Het
Tsacc	T	C	3: 88,202,703 (GRCm39)	E11G	probably benign	Het
Ttc7b	C	T	12: 100,461,666 (GRCm39)	A104T	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp108	T	A	7: 23,960,782 (GRCm39)	F458I	probably damaging	Het
Zfp616	A	T	11: 73,976,018 (GRCm39)	K762N	probably damaging	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
R3802:Kpnb1	UTSW	11	97,056,955 (GRCm39)	missense	possibly damaging	0.92
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
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'- ACCGTATCAGAAGGTCTCCTG -3'
(R):5'- GTTGGGCACAGAAACGTACC -3'

Sequencing Primer
(F):5'- TTTCAGAGTTCAAGGCCAGC -3'
(R):5'- AGAAACGTACCGGCCTAGTTCG -3'

Posted On

2018-06-06