Mutagenetix > Incidental Mutation

Incidental Mutation 'R9360:Kpna6'

708622

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9360 (G1)

Quality Score

224.009

Status

Not validated

Chromosome

Chromosomal Location

129537773-129566560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129547635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 304 (M304K)

Ref Sequence

ENSEMBL: ENSMUSP00000099650 (fasta)

Gene Model

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

AlphaFold

O35345

Predicted Effect

probably benign
Transcript: ENSMUST00000003828
AA Change: M301K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: M301K

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: M304K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: M304K

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 benign
Transcript: ENSMUST00000126010

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	G	12: 81,468,261 (GRCm39)	L120P	probably damaging	Het
Asb6	A	G	2: 30,714,334 (GRCm39)	S259P	probably damaging	Het
Atp6v0a2	C	A	5: 124,767,259 (GRCm39)	S7R	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cacna1h	G	A	17: 25,594,336 (GRCm39)	A2274V	probably benign	Het
Caml	A	C	13: 55,771,030 (GRCm39)	N43H	probably damaging	Het
Ccar2	A	G	14: 70,379,445 (GRCm39)	S518P	probably damaging	Het
Cdkl3	A	G	11: 51,924,349 (GRCm39)	I546V	probably null	Het
Chac1	C	T	2: 119,182,854 (GRCm39)	T84I	probably damaging	Het
Col6a6	T	C	9: 105,644,686 (GRCm39)	T1201A	probably benign	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Cyp4f17	C	T	17: 32,743,880 (GRCm39)	R353C	probably benign	Het
Depdc1a	A	G	3: 159,232,168 (GRCm39)	M640V	possibly damaging	Het
Dgkq	A	G	5: 108,798,469 (GRCm39)	V633A	probably damaging	Het
Fdft1	A	T	14: 63,415,189 (GRCm39)	Y14*	probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Ftdc1	T	C	16: 58,434,234 (GRCm39)	D161G	probably benign	Het
Gfm2	T	A	13: 97,289,752 (GRCm39)	V179E	probably damaging	Het
Gpr12	A	G	5: 146,520,299 (GRCm39)	F208L	probably benign	Het
Greb1	A	G	12: 16,790,037 (GRCm39)	S4P	probably damaging	Het
Hlcs	A	T	16: 93,932,672 (GRCm39)	I717N	probably damaging	Het
Hormad1	G	A	3: 95,483,622 (GRCm39)	A145T	probably benign	Het
Kcmf1	A	T	6: 72,838,826 (GRCm39)	C33*	probably null	Het
Kif13a	A	T	13: 46,962,472 (GRCm39)	S561T	probably benign	Het
Klhl20	G	T	1: 160,921,269 (GRCm39)	P571Q	probably benign	Het
Krt75	T	C	15: 101,476,729 (GRCm39)	K387E	probably damaging	Het
Lum	A	T	10: 97,404,752 (GRCm39)	K216*	probably null	Het
Meioc	A	G	11: 102,565,779 (GRCm39)	N409S	probably benign	Het
Mrpl20	T	C	4: 155,888,402 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,593,943 (GRCm39)	I374N	probably benign	Het
Nbea	A	G	3: 55,943,319 (GRCm39)	I652T	possibly damaging	Het
Nhsl1	G	A	10: 18,194,898 (GRCm39)	G56R	probably damaging	Het
Obscn	T	C	11: 58,973,650 (GRCm39)	I1894V	probably benign	Het
Olig2	A	C	16: 91,023,774 (GRCm39)	T163P	probably damaging	Het
Or13c7c	A	G	4: 43,835,765 (GRCm39)	S242P	probably benign	Het
Or4g7	T	C	2: 111,309,684 (GRCm39)	I185T	probably benign	Het
Or5p81	T	A	7: 108,266,977 (GRCm39)	L118Q	probably damaging	Het
Or7e168	T	A	9: 19,720,529 (GRCm39)	V305D	possibly damaging	Het
Parp4	G	A	14: 56,878,775 (GRCm39)		probably null	Het
Pcdhb2	T	C	18: 37,429,551 (GRCm39)	I508T	probably damaging	Het
Pcdhga8	T	C	18: 37,859,787 (GRCm39)	F281S	probably damaging	Het
Pom121l12	T	A	11: 14,549,516 (GRCm39)	M74K	possibly damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Rhag	T	C	17: 41,142,548 (GRCm39)	V251A	possibly damaging	Het
Rrs1	A	G	1: 9,616,845 (GRCm39)	*366W	probably null	Het
Sgpp2	A	G	1: 78,367,143 (GRCm39)	D92G	probably damaging	Het
Slc44a3	C	A	3: 121,325,908 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,968,956 (GRCm39)	M257V	probably benign	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tet2	G	T	3: 133,192,903 (GRCm39)	N510K	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,550 (GRCm39)	I836M	unknown	Het
Thada	A	G	17: 84,499,410 (GRCm39)	V1929A	probably benign	Het
Tram1l1	A	T	3: 124,115,899 (GRCm39)	D353V	probably damaging	Het
Trf	T	A	9: 103,094,734 (GRCm39)		probably null	Het
Trim15	A	T	17: 37,177,942 (GRCm39)	C18S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,952 (GRCm39)	I211T	probably damaging	Het
Zdhhc17	A	G	10: 110,783,165 (GRCm39)	V501A	probably benign	Het
Zfp563	A	G	17: 33,324,428 (GRCm39)	E341G	probably benign	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
R6799:Kpna6	UTSW	4	129,551,247 (GRCm39)	missense	probably damaging	0.99
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
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'- CTTGCAGCTCCAGACCTTTG -3'
(R):5'- GTAGCCCTATGATCAGTCCTCC -3'

Sequencing Primer
(F):5'- CCTTTGTAGGTCAGCTATCTGC -3'
(R):5'- AGTCCTCCTCTGCTTCCAACAG -3'

Posted On

2022-04-18