Mutagenetix > Incidental Mutation

Incidental Mutation 'R6799:Kpna6'

533190

Institutional Source

Beutler Lab

Gene Symbol

Kpna6

Ensembl Gene

ENSMUSG00000003731

Gene Name

karyopherin subunit alpha 6

Synonyms

NPI-2, IPOA7, importin alpha 7

MMRRC Submission

044912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129537773-129566560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129551247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 86 (L86P)

Ref Sequence

ENSEMBL: ENSMUSP00000114265 (fasta)

Gene Model

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

AlphaFold

O35345

Predicted Effect

probably damaging
Transcript: ENSMUST00000003828
AA Change: L86P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: L86P

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 damaging
Transcript: ENSMUST00000102590
AA Change: L89P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: L89P

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: L86P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731
AA Change: L86P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	T	5: 144,981,624 (GRCm39)	Y153F	probably damaging	Het
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Albfm1	A	G	5: 90,727,474 (GRCm39)	H364R	probably damaging	Het
Anapc1	C	G	2: 128,501,657 (GRCm39)	R795T	probably null	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Arhgap26	A	G	18: 39,232,660 (GRCm39)	N96D	probably damaging	Het
Asxl3	G	T	18: 22,598,457 (GRCm39)	E191*	probably null	Het
Cc2d2b	A	G	19: 40,779,652 (GRCm39)	E697G	possibly damaging	Het
Chaf1a	A	T	17: 56,354,059 (GRCm39)	I110F	unknown	Het
Clca4b	A	T	3: 144,621,388 (GRCm39)		probably null	Het
Dagla	C	A	19: 10,234,214 (GRCm39)	V366L	probably damaging	Het
Dapk1	A	G	13: 60,900,049 (GRCm39)	N878S	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dhx38	A	G	8: 110,279,834 (GRCm39)	L952P	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Dtymk	A	G	1: 93,726,214 (GRCm39)	L15P	probably benign	Het
E330034G19Rik	A	G	14: 24,346,178 (GRCm39)	M30V	probably benign	Het
Egfr	G	A	11: 16,846,952 (GRCm39)	C783Y	probably damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw24	T	A	9: 109,453,998 (GRCm39)	R49S	probably damaging	Het
Fcsk	T	C	8: 111,620,050 (GRCm39)	M276V	probably benign	Het
Gm8797	A	T	3: 5,816,027 (GRCm39)	T22S	probably benign	Het
Hao1	T	C	2: 134,372,685 (GRCm39)	S108G	probably damaging	Het
Hdac4	C	A	1: 91,929,935 (GRCm39)	A184S	probably damaging	Het
Hikeshi	T	A	7: 89,579,553 (GRCm39)		probably benign	Het
Hivep2	C	T	10: 14,004,757 (GRCm39)	R452C	probably benign	Het
Hsdl1	T	C	8: 120,293,169 (GRCm39)	S68G	probably benign	Het
Kctd20	T	C	17: 29,182,351 (GRCm39)		probably null	Het
Klf11	T	C	12: 24,705,638 (GRCm39)	V364A	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lpin1	T	A	12: 16,611,045 (GRCm39)	N516Y	probably damaging	Het
Lrp2	T	C	2: 69,314,248 (GRCm39)	Y2161C	probably damaging	Het
Lrrtm3	A	T	10: 63,923,630 (GRCm39)	C512*	probably null	Het
Mfsd1	T	C	3: 67,507,314 (GRCm39)	I405T	probably damaging	Het
Msc	T	G	1: 14,825,491 (GRCm39)	D161A	probably damaging	Het
Mttp	T	C	3: 137,800,841 (GRCm39)	I755V	probably benign	Het
Ncam1	T	C	9: 49,419,911 (GRCm39)	T803A	probably damaging	Het
Nlrp14	A	G	7: 106,795,346 (GRCm39)	I210V	probably benign	Het
Npat	A	T	9: 53,462,930 (GRCm39)	H108L	probably benign	Het
Nt5dc1	A	G	10: 34,189,703 (GRCm39)	I329T	possibly damaging	Het
Or10v5	T	A	19: 11,806,178 (GRCm39)	I71F	possibly damaging	Het
Or51q1c	T	A	7: 103,648,006 (GRCm39)		probably null	Het
Or8b35	T	C	9: 37,904,478 (GRCm39)	L230P	possibly damaging	Het
Parm1	C	T	5: 91,742,070 (GRCm39)	T146I	possibly damaging	Het
Parp2	T	C	14: 51,058,553 (GRCm39)	Y528H	probably damaging	Het
Pias1	G	T	9: 62,789,334 (GRCm39)	S624R	probably benign	Het
Ppif	A	G	14: 25,696,488 (GRCm39)	H95R	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Psg20	A	G	7: 18,418,345 (GRCm39)	Y141H	probably benign	Het
Pygm	A	T	19: 6,448,157 (GRCm39)	Y733F	probably damaging	Het
Rcc1l	A	T	5: 134,205,552 (GRCm39)	M1K	probably null	Het
Rfpl4b	T	C	10: 38,697,341 (GRCm39)	K87E	possibly damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Scn5a	A	C	9: 119,324,688 (GRCm39)	I1380S	possibly damaging	Het
Sel1l	A	G	12: 91,781,742 (GRCm39)		probably null	Het
Slc18a1	T	A	8: 69,493,633 (GRCm39)	I400L	probably benign	Het
Slc30a3	A	G	5: 31,246,958 (GRCm39)	S73P	probably damaging	Het
Slc9a5	A	T	8: 106,090,600 (GRCm39)	N685I	possibly damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trdmt1	A	G	2: 13,520,824 (GRCm39)		probably null	Het
Ttyh1	G	T	7: 4,136,221 (GRCm39)		probably null	Het
Tyms	A	T	5: 30,266,069 (GRCm39)	D283E	probably benign	Het
Vmn2r110	T	A	17: 20,803,798 (GRCm39)	Y259F	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r88	C	A	14: 51,651,426 (GRCm39)	Q255K	probably benign	Het
Vmn2r95	C	T	17: 18,659,555 (GRCm39)	P100S	probably damaging	Het
Zfp128	A	T	7: 12,624,826 (GRCm39)	H398L	possibly damaging	Het

Other mutations in Kpna6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Kpna6	APN	4	129,549,276 (GRCm39)	missense	probably damaging	1.00
IGL02750:Kpna6	APN	4	129,555,170 (GRCm39)	missense	probably damaging	1.00
IGL02904:Kpna6	APN	4	129,544,480 (GRCm39)	missense	probably benign	0.24
IGL02998:Kpna6	APN	4	129,549,297 (GRCm39)	missense	probably benign	0.00
IGL03370:Kpna6	APN	4	129,549,314 (GRCm39)	missense	probably damaging	1.00
krazy_eight	UTSW	4	129,549,221 (GRCm39)	critical splice donor site	probably null
magnificent_seven	UTSW	4	129,543,099 (GRCm39)	nonsense	probably null
R0054:Kpna6	UTSW	4	129,551,251 (GRCm39)	missense	probably benign	0.01
R0054:Kpna6	UTSW	4	129,551,251 (GRCm39)	missense	probably benign	0.01
R0305:Kpna6	UTSW	4	129,543,042 (GRCm39)	missense	probably benign	0.00
R0390:Kpna6	UTSW	4	129,551,597 (GRCm39)	missense	possibly damaging	0.61
R0623:Kpna6	UTSW	4	129,549,209 (GRCm39)	unclassified	probably benign
R0646:Kpna6	UTSW	4	129,544,583 (GRCm39)	missense	probably benign	0.43
R1067:Kpna6	UTSW	4	129,541,896 (GRCm39)	missense	probably benign	0.39
R1348:Kpna6	UTSW	4	129,555,152 (GRCm39)	nonsense	probably null
R1661:Kpna6	UTSW	4	129,551,264 (GRCm39)	missense	probably benign	0.10
R1665:Kpna6	UTSW	4	129,551,264 (GRCm39)	missense	probably benign	0.10
R1766:Kpna6	UTSW	4	129,551,235 (GRCm39)	missense	probably benign	0.33
R4833:Kpna6	UTSW	4	129,551,572 (GRCm39)	missense	possibly damaging	0.51
R4941:Kpna6	UTSW	4	129,541,825 (GRCm39)	missense	probably damaging	1.00
R4974:Kpna6	UTSW	4	129,550,198 (GRCm39)	splice site	probably null
R5244:Kpna6	UTSW	4	129,549,221 (GRCm39)	critical splice donor site	probably null
R5914:Kpna6	UTSW	4	129,566,485 (GRCm39)	unclassified	probably benign
R6148:Kpna6	UTSW	4	129,543,099 (GRCm39)	nonsense	probably null
R6713:Kpna6	UTSW	4	129,547,777 (GRCm39)	missense	probably damaging	1.00
R6942:Kpna6	UTSW	4	129,545,514 (GRCm39)	splice site	probably null
R7073:Kpna6	UTSW	4	129,548,139 (GRCm39)	missense	probably damaging	1.00
R7794:Kpna6	UTSW	4	129,541,844 (GRCm39)	missense	probably benign
R7815:Kpna6	UTSW	4	129,551,590 (GRCm39)	missense	probably benign
R8290:Kpna6	UTSW	4	129,555,097 (GRCm39)	critical splice donor site	probably null
R9360:Kpna6	UTSW	4	129,547,635 (GRCm39)	missense	probably benign	0.00
Z1176:Kpna6	UTSW	4	129,549,341 (GRCm39)	missense	probably damaging	1.00
Z1176:Kpna6	UTSW	4	129,541,871 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGACATATTCAAAGAAAACCTGGCC -3'
(R):5'- TTGAAGCAGACGTGGATTGG -3'

Sequencing Primer
(F):5'- TTAATTCCAGCACTCGGGAG -3'
(R):5'- GGATAAGCCCTCCTATCACTTGAGG -3'

Posted On

2018-09-12