Mutagenetix > Incidental Mutation

Incidental Mutation 'R7815:Kpna6'

601455

Institutional Source

Beutler Lab

Gene Symbol

Kpna6

Ensembl Gene

ENSMUSG00000003731

Gene Name

karyopherin subunit alpha 6

Synonyms

NPI-2, IPOA7, importin alpha 7

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129537773-129566560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129551590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 65 (M65V)

Ref Sequence

ENSEMBL: ENSMUSP00000114265 (fasta)

Gene Model

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

AlphaFold

O35345

Predicted Effect

probably benign
Transcript: ENSMUST00000003828
AA Change: M65V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: M65V

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: M68V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: M68V

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
AA Change: M65V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731
AA Change: M65V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,818,866 (GRCm39)	D1285G	probably benign	Het
Abcc9	A	G	6: 142,598,331 (GRCm39)	V669A	probably damaging	Het
Ajap1	C	A	4: 153,517,288 (GRCm39)	G18C	probably damaging	Het
Alms1	G	T	6: 85,592,340 (GRCm39)	M397I	probably benign	Het
Ampd2	A	T	3: 107,982,247 (GRCm39)	M794K	probably benign	Het
Ankrd35	A	T	3: 96,592,117 (GRCm39)	Q801L	probably damaging	Het
Casz1	A	T	4: 149,013,762 (GRCm39)	I109F	possibly damaging	Het
Ces5a	G	A	8: 94,247,623 (GRCm39)	S297F	possibly damaging	Het
Col7a1	A	G	9: 108,798,633 (GRCm39)	D1762G	probably damaging	Het
Dsp	A	T	13: 38,375,446 (GRCm39)	Y1077F	probably benign	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erbb4	A	G	1: 68,081,885 (GRCm39)	Y1050H	probably damaging	Het
Fpgt	A	T	3: 154,792,289 (GRCm39)	S579R	probably benign	Het
Gabra4	T	A	5: 71,815,152 (GRCm39)	M1L	possibly damaging	Het
Galk2	G	A	2: 125,817,321 (GRCm39)	S370N	probably damaging	Het
Gpr155	T	A	2: 73,192,904 (GRCm39)	T516S	probably benign	Het
Homez	T	C	14: 55,095,675 (GRCm39)	N11S	probably benign	Het
Hspg2	G	A	4: 137,239,775 (GRCm39)	G494D	probably damaging	Het
Htr3b	C	T	9: 48,856,833 (GRCm39)	R215Q	probably benign	Het
Igfbp4	A	G	11: 98,932,654 (GRCm39)	E111G	probably benign	Het
Igkv8-19	T	C	6: 70,318,420 (GRCm39)	T5A	probably benign	Het
Insrr	A	G	3: 87,716,002 (GRCm39)	K566E	probably damaging	Het
Iqsec3	A	G	6: 121,450,317 (GRCm39)	V69A	probably benign	Het
Kdm5d	T	C	Y: 940,702 (GRCm39)	V1071A	probably damaging	Het
Kif28	A	G	1: 179,563,548 (GRCm39)	C143R	probably damaging	Het
L3mbtl3	T	C	10: 26,156,276 (GRCm39)	S669G	unknown	Het
Man1a2	A	T	3: 100,563,495 (GRCm39)	I50N	probably damaging	Het
Map3k11	A	T	19: 5,745,667 (GRCm39)	M356L	possibly damaging	Het
Meioc	A	T	11: 102,566,414 (GRCm39)	N677Y	probably damaging	Het
Myom3	A	T	4: 135,528,674 (GRCm39)	K1108M	possibly damaging	Het
Nav1	C	T	1: 135,512,377 (GRCm39)	E228K	possibly damaging	Het
Ncapd3	G	A	9: 26,974,736 (GRCm39)	W736*	probably null	Het
Nfkb1	T	C	3: 135,309,552 (GRCm39)	D514G	probably damaging	Het
Nnt	T	A	13: 119,494,111 (GRCm39)	T657S	possibly damaging	Het
Or4k5	A	G	14: 50,386,253 (GRCm39)	F26S	probably benign	Het
Or51b4	A	G	7: 103,530,992 (GRCm39)	S153P	probably benign	Het
Oser1	A	T	2: 163,253,336 (GRCm39)	S58T	possibly damaging	Het
Pcdha5	T	A	18: 37,094,556 (GRCm39)	I355N	possibly damaging	Het
Pllp	C	G	8: 95,402,804 (GRCm39)	G99A	probably damaging	Het
Pram1	A	G	17: 33,861,106 (GRCm39)	N509S	probably benign	Het
Prkd1	A	C	12: 50,472,300 (GRCm39)	N204K	probably damaging	Het
Prss23	G	A	7: 89,159,253 (GRCm39)	P272L	probably damaging	Het
Pxdn	T	C	12: 30,055,824 (GRCm39)	F1057L	probably damaging	Het
Rapgef5	T	A	12: 117,719,702 (GRCm39)	S777R	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rfx3	A	T	19: 27,803,448 (GRCm39)	M265K	probably benign	Het
S100a7a	C	A	3: 90,565,119 (GRCm39)	H105N	probably benign	Het
Serpinb3b	T	C	1: 107,084,625 (GRCm39)	D132G	probably damaging	Het
Sp7	T	A	15: 102,274,822 (GRCm39)		probably benign	Het
Tacstd2	A	G	6: 67,512,140 (GRCm39)	F184S	possibly damaging	Het
Trdc	C	A	14: 54,381,259 (GRCm39)		probably benign	Het
Trpa1	T	A	1: 14,974,486 (GRCm39)	H232L	probably benign	Het
Trpc3	G	T	3: 36,709,294 (GRCm39)	T394K	probably benign	Het
Tuba3b	G	A	6: 145,566,847 (GRCm39)	V363I	possibly damaging	Het
Tubb2a	C	A	13: 34,258,962 (GRCm39)	R276L	probably benign	Het
Ubap2l	A	T	3: 89,951,071 (GRCm39)	L72*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Wdr26	A	G	1: 181,036,638 (GRCm39)	V166A	probably benign	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Xirp2	G	A	2: 67,339,756 (GRCm39)	G666R	probably damaging	Het
Zfp131	T	C	13: 120,237,516 (GRCm39)	K247E	probably 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
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
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'- AATCCACGTCTGCTTCAAGGTAC -3'
(R):5'- TTCTCCTCACCATTACACAAAGTG -3'

Sequencing Primer
(F):5'- AGGTACAATATTTAAAAGGGATTCCC -3'
(R):5'- GTCTGCTTAAATTAAATGTTGGCCTC -3'

Posted On

2019-12-03