Mutagenetix > Incidental Mutation

Incidental Mutation 'R8874:Kpnb1'

676482

Institutional Source

Beutler Lab

Gene Symbol

Kpnb1

Ensembl Gene

ENSMUSG00000001440

Gene Name

karyopherin subunit beta 1

Synonyms

Impnb

MMRRC Submission

068744-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8874 (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 97056209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 699 (N699S)

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: N699S

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: N699S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,875,671 (GRCm39)	M615V	possibly damaging	Het
Bud31	T	C	5: 145,079,379 (GRCm39)		probably null	Het
Calhm4	A	G	10: 33,920,264 (GRCm39)	M1T	probably null	Het
Ccdc42	A	G	11: 68,485,396 (GRCm39)	K105E	probably damaging	Het
Cenpq	A	G	17: 41,242,551 (GRCm39)	S93P	probably damaging	Het
Cfh	A	G	1: 140,014,159 (GRCm39)	F1222L	probably damaging	Het
Cpxm2	A	T	7: 131,708,010 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,365,157 (GRCm39)	D1627G	possibly damaging	Het
Diras2	T	C	13: 52,661,737 (GRCm39)	E190G	possibly damaging	Het
Dpyd	G	C	3: 118,792,981 (GRCm39)	A563P	probably damaging	Het
Efcab8	T	A	2: 153,640,569 (GRCm39)	N343K		Het
Gbp2b	A	G	3: 142,314,040 (GRCm39)	E440G	probably benign	Het
Ghrhr	T	C	6: 55,355,891 (GRCm39)	F30L	probably benign	Het
Gm3404	T	A	5: 146,464,953 (GRCm39)	V231E	possibly damaging	Het
Gramd4	A	G	15: 85,985,093 (GRCm39)	H143R	probably damaging	Het
Greb1l	A	T	18: 10,544,896 (GRCm39)	E1408V	probably benign	Het
Hdgfl1	T	G	13: 26,954,007 (GRCm39)	Y22S	probably damaging	Het
Heatr1	T	A	13: 12,445,793 (GRCm39)	V1590D	probably damaging	Het
Hecw2	A	T	1: 53,943,608 (GRCm39)		probably benign	Het
Igkv8-30	C	A	6: 70,094,150 (GRCm39)	R87L	probably damaging	Het
Il18rap	T	A	1: 40,564,506 (GRCm39)	C179S	probably damaging	Het
Itprid2	A	G	2: 79,487,684 (GRCm39)	K589R	probably benign	Het
Jph4	T	C	14: 55,351,534 (GRCm39)	T161A	possibly damaging	Het
Klhdc7a	A	T	4: 139,694,896 (GRCm39)	M17K	probably damaging	Het
Lama3	T	C	18: 12,582,643 (GRCm39)		probably null	Het
Lca5	A	G	9: 83,277,503 (GRCm39)	F614L	probably damaging	Het
Lyst	T	C	13: 13,812,147 (GRCm39)	V853A	probably benign	Het
Map2	A	T	1: 66,455,523 (GRCm39)	T1406S	probably damaging	Het
Med23	A	G	10: 24,771,617 (GRCm39)	I552V	possibly damaging	Het
Myo1h	A	T	5: 114,472,163 (GRCm39)	I414L		Het
Myom1	A	G	17: 71,413,199 (GRCm39)	K1271E	probably damaging	Het
Or14j5	A	T	17: 38,161,675 (GRCm39)	K64M	probably damaging	Het
Or2n1b	T	A	17: 38,459,623 (GRCm39)	V48E	possibly damaging	Het
Or7e177	T	C	9: 20,212,069 (GRCm39)	F192S	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prdm2	A	T	4: 142,859,785 (GRCm39)	D1168E	possibly damaging	Het
Prr5	T	C	15: 84,583,916 (GRCm39)	M181T	probably damaging	Het
Ptpdc1	A	G	13: 48,744,168 (GRCm39)	I151T	probably damaging	Het
Ptpn7	T	C	1: 135,067,004 (GRCm39)	V287A	possibly damaging	Het
Ptprz1	T	C	6: 23,042,747 (GRCm39)	V2057A		Het
Rad17	G	T	13: 100,754,327 (GRCm39)	A631E	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Slc22a2	A	T	17: 12,828,866 (GRCm39)	D324V	probably benign	Het
Strc	C	T	2: 121,205,353 (GRCm39)		probably null	Het
Taf4b	T	G	18: 14,963,127 (GRCm39)	D622E	probably benign	Het
Tgfbrap1	A	C	1: 43,114,973 (GRCm39)	N42K	probably benign	Het
Uvrag	A	G	7: 98,628,943 (GRCm39)	F375L	probably benign	Het
Vmn2r76	A	G	7: 85,877,999 (GRCm39)	I466T	probably damaging	Het
Vmn2r8	T	C	5: 108,956,617 (GRCm39)	K2E	probably damaging	Het
Vps13d	T	C	4: 144,881,772 (GRCm39)	T1274A		Het
Vwa3b	C	T	1: 37,074,839 (GRCm39)	A2V	possibly damaging	Het
Ylpm1	T	C	12: 85,116,394 (GRCm39)	V2092A	probably damaging	Het
Zfp638	T	C	6: 83,946,135 (GRCm39)	S1055P	probably damaging	Het
Zzef1	A	G	11: 72,754,815 (GRCm39)	T982A	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
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
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'- TGCTCTGAAGATGCAAGAAACTTG -3'
(R):5'- CTCTGGTTCACATAATTATGAGAGACG -3'

Sequencing Primer
(F):5'- TGAGTTACTGCTGGATAGAGAAATC -3'
(R):5'- TGAGAGACGTTTAAATAATCAAGCTG -3'

Posted On

2021-07-15