Mutagenetix > Incidental Mutation

Incidental Mutation 'R0825:Kpnb1'

78187

Institutional Source

Beutler Lab

Gene Symbol

Kpnb1

Ensembl Gene

ENSMUSG00000001440

Gene Name

karyopherin subunit beta 1

Synonyms

Impnb

MMRRC Submission

039005-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0825 (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 97062501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 421 (S421R)

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: S421R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: S421R

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

0.1483

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 91.4%

Validation Efficiency

98% (46/47)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,619,551 (GRCm39)	I963N	probably damaging	Het
Aox4	A	G	1: 58,288,068 (GRCm39)	D727G	possibly damaging	Het
Arhgef26	T	A	3: 62,334,014 (GRCm39)	I590N	probably damaging	Het
Arid1b	T	G	17: 5,392,453 (GRCm39)	C1994W	probably damaging	Het
Chd9	T	C	8: 91,777,825 (GRCm39)	I2628T	probably benign	Het
Clspn	G	A	4: 126,466,923 (GRCm39)		probably benign	Het
Cyp2a4	A	T	7: 26,012,341 (GRCm39)	T375S	probably benign	Het
Dmtf1	A	T	5: 9,180,388 (GRCm39)	M226K	probably damaging	Het
Erap1	T	C	13: 74,822,733 (GRCm39)		probably benign	Het
Frmpd1	A	G	4: 45,285,394 (GRCm39)	D1405G	possibly damaging	Het
Gfm2	A	T	13: 97,279,612 (GRCm39)		probably benign	Het
Ghsr	T	C	3: 27,428,776 (GRCm39)	V267A	probably damaging	Het
Golga2	A	C	2: 32,194,803 (GRCm39)	Q650P	probably damaging	Het
Hmgcl	A	G	4: 135,687,381 (GRCm39)	T219A	probably benign	Het
Ift27	C	A	15: 78,049,336 (GRCm39)		probably benign	Het
Igfn1	C	T	1: 135,890,864 (GRCm39)	E2379K	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Minar1	G	A	9: 89,485,332 (GRCm39)	Q22*	probably null	Het
Mtx3	C	A	13: 92,986,849 (GRCm39)	T264K	probably damaging	Het
Nrg3	G	A	14: 39,194,348 (GRCm39)	P137L	possibly damaging	Het
Nt5c2	A	G	19: 46,887,344 (GRCm39)		probably benign	Het
Or2y1e	T	A	11: 49,218,509 (GRCm39)	H90Q	probably benign	Het
Or5ac17	G	T	16: 59,036,813 (GRCm39)	H54Q	possibly damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd5	G	A	7: 35,346,338 (GRCm39)	R91W	possibly damaging	Het
Pxdn	G	A	12: 30,034,995 (GRCm39)		probably benign	Het
Rgl2	T	A	17: 34,154,133 (GRCm39)		probably null	Het
Rnf217	T	C	10: 31,393,453 (GRCm39)	D376G	probably damaging	Het
Septin9	C	T	11: 117,250,286 (GRCm39)	L519F	probably damaging	Het
Slc15a5	C	T	6: 137,995,087 (GRCm39)	C386Y	possibly damaging	Het
Srrm4	T	A	5: 116,591,772 (GRCm39)	I256F	unknown	Het
Stab1	G	T	14: 30,874,557 (GRCm39)	D950E	probably benign	Het
Stim2	A	G	5: 54,275,825 (GRCm39)	T667A	probably benign	Het
Strbp	A	T	2: 37,525,539 (GRCm39)	N144K	probably benign	Het
Sync	A	G	4: 129,187,190 (GRCm39)	Y74C	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tgfbi	T	C	13: 56,786,523 (GRCm39)		probably benign	Het
Tmf1	A	T	6: 97,152,956 (GRCm39)	N372K	probably benign	Het
Ubr4	G	T	4: 139,206,887 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,197,224 (GRCm39)	N1226K	probably benign	Het
Ugt2b34	T	C	5: 87,054,560 (GRCm39)	I74V	possibly damaging	Het
Wdfy3	A	G	5: 102,017,917 (GRCm39)	L2541P	probably damaging	Het
Zfhx3	T	G	8: 109,675,840 (GRCm39)	F2297V	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
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
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'- ACACCTCCTAATGGCTCGGACAAG -3'
(R):5'- TGTCAGGATAGAAGCCAGTGCCAC -3'

Sequencing Primer
(F):5'- GGACAAGCTCCTGCCTTC -3'
(R):5'- actcaggctggcatcaaac -3'

Posted On

2013-10-16