Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02750:Kpna6'

306239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kpna6

Ensembl Gene

ENSMUSG00000003731

Gene Name

karyopherin (importin) alpha 6

Synonyms

IPOA7, NPI-2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

129643980-129672767 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129661377 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 20 (N20D)

Ref Sequence

ENSEMBL: ENSMUSP00000114265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003828] [ENSMUST00000102590] [ENSMUST00000126010]

Predicted Effect

probably benign
Transcript: ENSMUST00000003828
AA Change: N20D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: N20D

Domain	Start	End	E-Value	Type
Pfam:IBB	2	100	9.5e-28	PFAM
ARM	109	151	2.46e-4	SMART
ARM	153	193	6.73e-11	SMART
ARM	195	236	3.19e-3	SMART
ARM	239	278	6.64e-1	SMART
ARM	280	320	1.16e-5	SMART
ARM	322	362	1.98e-8	SMART
ARM	364	404	6.68e-6	SMART
ARM	407	447	1.89e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102590
AA Change: N23D

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: N23D

Domain	Start	End	E-Value	Type
Pfam:IBB	9	102	4.4e-27	PFAM
ARM	112	154	2.46e-4	SMART
ARM	156	196	6.73e-11	SMART
ARM	198	239	3.19e-3	SMART
ARM	242	281	6.64e-1	SMART
ARM	283	323	1.16e-5	SMART
ARM	325	365	1.98e-8	SMART
ARM	367	407	6.68e-6	SMART
ARM	410	450	1.89e-5	SMART
Pfam:Arm_3	464	514	5.3e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000126010
AA Change: N20D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731
AA Change: N20D

Domain	Start	End	E-Value	Type
Pfam:IBB	2	88	3.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146361

Coding Region Coverage

Validation Efficiency

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. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null mutation are infertile and show a block in zygotic genome activation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,548,791	K884R	probably benign	Het
Ano3	T	A	2: 110,665,984		probably benign	Het
Baz2b	C	A	2: 59,968,658	S374I	possibly damaging	Het
Brd4	G	A	17: 32,198,379		probably benign	Het
Cd3g	C	A	9: 44,971,310		probably benign	Het
Ckmt1	C	T	2: 121,363,615		probably benign	Het
Clcnkb	T	C	4: 141,405,362		probably null	Het
Dkkl1	C	T	7: 45,210,112		probably null	Het
Ehmt1	G	A	2: 24,863,869	T161I	probably damaging	Het
Ern2	A	G	7: 122,181,406		probably benign	Het
Fmnl2	T	C	2: 53,103,697	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,507,991	S25Y	probably benign	Het
Gemin7	C	T	7: 19,565,419	V84M	probably null	Het
Gm17654	A	G	14: 43,578,199		probably benign	Het
Grk6	T	C	13: 55,451,543	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,216,889	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,676,512	I581F	probably damaging	Het
Herc2	T	A	7: 56,204,379		probably benign	Het
Hook3	A	T	8: 26,095,754		probably benign	Het
Ints4	T	A	7: 97,517,757		probably null	Het
Krtap29-1	T	C	11: 99,978,684	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,851,280	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,531,683	D268G	probably damaging	Het
Mcm6	T	A	1: 128,343,472	Q470L	probably damaging	Het
Neb	T	C	2: 52,291,055	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,860,375	V285L	probably benign	Het
Olfr118	T	A	17: 37,672,609	C195*	probably null	Het
Olfr1281	A	G	2: 111,329,288	R290G	probably damaging	Het
Olfr307	T	A	7: 86,335,544	N284I	probably damaging	Het
Pdcd1	A	G	1: 94,039,544		probably benign	Het
Pnkp	A	G	7: 44,860,187		probably benign	Het
Pou4f2	A	T	8: 78,435,063	F304I	probably damaging	Het
Rita1	G	A	5: 120,609,651	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,621,939	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,603,164	T168A	probably benign	Het
Skint5	T	A	4: 113,539,362	M1205L	unknown	Het
Sox13	A	C	1: 133,383,796	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,198,491	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,633,389	P710Q	probably damaging	Het
Trpm5	T	C	7: 143,074,484	H1018R	possibly damaging	Het
Ubr2	A	T	17: 46,969,282	M647K	probably benign	Het
Ubr7	A	T	12: 102,771,278	T395S	possibly damaging	Het
Uri1	G	A	7: 37,967,481	R176*	probably null	Het
Vmn1r188	A	T	13: 22,088,730	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,397,634		probably benign	Het
Vmn2r2	C	A	3: 64,117,402	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,582,589	W62R	probably benign	Het
Zfp24	A	T	18: 24,017,353	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236	K1254R	probably null	Het

Other mutations in Kpna6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Kpna6	APN	4	129655483	missense	probably damaging	1.00
IGL02904:Kpna6	APN	4	129650687	missense	probably benign	0.24
IGL02998:Kpna6	APN	4	129655504	missense	probably benign	0.00
IGL03370:Kpna6	APN	4	129655521	missense	probably damaging	1.00
krazy_eight	UTSW	4	129655428	critical splice donor site	probably null
magnificent_seven	UTSW	4	129649306	nonsense	probably null
R0054:Kpna6	UTSW	4	129657458	missense	probably benign	0.01
R0054:Kpna6	UTSW	4	129657458	missense	probably benign	0.01
R0305:Kpna6	UTSW	4	129649249	missense	probably benign	0.00
R0390:Kpna6	UTSW	4	129657804	missense	possibly damaging	0.61
R0623:Kpna6	UTSW	4	129655416	unclassified	probably benign
R0646:Kpna6	UTSW	4	129650790	missense	probably benign	0.43
R1067:Kpna6	UTSW	4	129648103	missense	probably benign	0.39
R1348:Kpna6	UTSW	4	129661359	nonsense	probably null
R1661:Kpna6	UTSW	4	129657471	missense	probably benign	0.10
R1665:Kpna6	UTSW	4	129657471	missense	probably benign	0.10
R1766:Kpna6	UTSW	4	129657442	missense	probably benign	0.33
R4833:Kpna6	UTSW	4	129657779	missense	possibly damaging	0.51
R4941:Kpna6	UTSW	4	129648032	missense	probably damaging	1.00
R4974:Kpna6	UTSW	4	129656405	splice site	probably null
R5244:Kpna6	UTSW	4	129655428	critical splice donor site	probably null
R5914:Kpna6	UTSW	4	129672692	unclassified	probably benign
R6148:Kpna6	UTSW	4	129649306	nonsense	probably null
R6713:Kpna6	UTSW	4	129653984	missense	probably damaging	1.00
R6799:Kpna6	UTSW	4	129657454	missense	probably damaging	0.99
R6942:Kpna6	UTSW	4	129651721	splice site	probably null
R7073:Kpna6	UTSW	4	129654346	missense	probably damaging	1.00
R7794:Kpna6	UTSW	4	129648051	missense	probably benign
R7815:Kpna6	UTSW	4	129657797	missense	probably benign
Z1176:Kpna6	UTSW	4	129648078	missense	not run
Z1176:Kpna6	UTSW	4	129655548	missense	not run

Posted On

2015-04-16