Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Kpna6'

40977

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

038348-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129537773-129566560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129551251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 85 (M85V)

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: M85V

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

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: M85V

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: M88V

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

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: M88V

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: M85V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731
AA Change: M85V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146361

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,547,500 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,420 (GRCm39)	V3568E	probably damaging	Het
Alpi	T	C	1: 87,027,487 (GRCm39)	E293G	possibly damaging	Het
Apoa4	A	G	9: 46,153,822 (GRCm39)	D141G	probably benign	Het
Atg9a	T	C	1: 75,161,143 (GRCm39)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,762,510 (GRCm39)	R922Q	probably damaging	Het
Bmal2	T	G	6: 146,731,216 (GRCm39)	V507G	probably benign	Het
Bpnt1	G	A	1: 185,073,413 (GRCm39)		probably benign	Het
Brms1	T	A	19: 5,096,727 (GRCm39)	C136*	probably null	Het
Ccdc180	T	A	4: 45,890,900 (GRCm39)	V24E	probably benign	Het
Cdh17	A	G	4: 11,785,186 (GRCm39)	Y326C	possibly damaging	Het
Cgn	A	T	3: 94,669,899 (GRCm39)	D1080E	possibly damaging	Het
Clec4f	C	T	6: 83,629,911 (GRCm39)	V216M	probably benign	Het
Cpd	C	G	11: 76,681,664 (GRCm39)	G1160R	probably damaging	Het
Csf2ra	A	G	19: 61,215,035 (GRCm39)	L143P	probably damaging	Het
Ddb2	G	T	2: 91,065,165 (GRCm39)	Q87K	probably benign	Het
Defb41	A	G	1: 18,321,471 (GRCm39)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,303,267 (GRCm39)	N1546D	probably benign	Het
Dll1	A	T	17: 15,589,216 (GRCm39)	H486Q	probably damaging	Het
Dmac1	A	G	4: 75,196,337 (GRCm39)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,681,369 (GRCm39)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,643,448 (GRCm39)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,755,264 (GRCm39)	D973Y	unknown	Het
Entpd3	T	A	9: 120,386,608 (GRCm39)	N196K	probably damaging	Het
Fam53a	C	A	5: 33,765,076 (GRCm39)	G210V	probably damaging	Het
Farsb	T	A	1: 78,439,011 (GRCm39)	K395*	probably null	Het
Fem1b	A	G	9: 62,704,082 (GRCm39)	S393P	probably damaging	Het
Fsip2	T	A	2: 82,806,952 (GRCm39)	D1090E	probably damaging	Het
Fsip2	A	C	2: 82,817,299 (GRCm39)	N4344T	possibly damaging	Het
Gata3	G	A	2: 9,863,258 (GRCm39)	P419S	probably damaging	Het
Gm7247	T	A	14: 51,807,057 (GRCm39)		probably benign	Het
Gphn	A	G	12: 78,684,277 (GRCm39)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,689,755 (GRCm39)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm39)		probably benign	Het
Grik3	C	A	4: 125,517,368 (GRCm39)	N70K	probably damaging	Het
Gsap	T	A	5: 21,455,933 (GRCm39)		probably benign	Het
Iars1	T	A	13: 49,846,611 (GRCm39)	C237S	probably damaging	Het
Itprid1	T	C	6: 55,849,457 (GRCm39)		probably benign	Het
Kank2	G	A	9: 21,685,970 (GRCm39)	R635*	probably null	Het
Kcnj16	G	T	11: 110,915,549 (GRCm39)	W70C	probably damaging	Het
Kri1	G	A	9: 21,186,661 (GRCm39)	S447L	probably damaging	Het
L2hgdh	G	A	12: 69,768,105 (GRCm39)	P131L	possibly damaging	Het
Lrp1b	A	G	2: 40,632,829 (GRCm39)	V3528A	probably benign	Het
Lrrc46	A	T	11: 96,929,605 (GRCm39)	L77Q	probably damaging	Het
Mdc1	A	G	17: 36,159,925 (GRCm39)	T678A	probably benign	Het
Mrpl44	T	C	1: 79,757,212 (GRCm39)	L219S	probably damaging	Het
Myo7a	T	C	7: 97,714,905 (GRCm39)	D112G	probably damaging	Het
Ncoa3	A	G	2: 165,897,098 (GRCm39)	T630A	possibly damaging	Het
Nsl1	T	C	1: 190,814,381 (GRCm39)	L194P	probably damaging	Het
Or4k39	G	A	2: 111,239,140 (GRCm39)	G127S	probably benign	Het
Or5ac23	T	C	16: 59,149,428 (GRCm39)	Y148C	possibly damaging	Het
Or8u10	T	C	2: 85,915,705 (GRCm39)	K139E	probably benign	Het
Pde4d	A	G	13: 109,876,955 (GRCm39)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,142,978 (GRCm39)	R845G	probably null	Het
Pld1	A	G	3: 28,150,033 (GRCm39)		probably benign	Het
Pramel25	T	A	4: 143,521,572 (GRCm39)	L396H	probably damaging	Het
Psd	T	A	19: 46,311,781 (GRCm39)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,195 (GRCm39)	W332R	probably damaging	Het
Rab3d	A	T	9: 21,827,222 (GRCm39)	S3T	possibly damaging	Het
Rnf212	T	A	5: 108,893,530 (GRCm39)	M70L	possibly damaging	Het
Scd3	A	G	19: 44,204,076 (GRCm39)	Y88C	probably damaging	Het
Sema4f	A	G	6: 82,896,674 (GRCm39)		probably benign	Het
Sez6	C	A	11: 77,844,699 (GRCm39)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,502,660 (GRCm39)	I290T	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a3	T	A	16: 91,874,522 (GRCm39)	I193N	probably damaging	Het
Slc5a4a	A	G	10: 76,014,031 (GRCm39)	I413V	probably null	Het
Snip1	T	A	4: 124,966,633 (GRCm39)	Y354*	probably null	Het
Spata31d1c	A	G	13: 65,180,876 (GRCm39)		probably benign	Het
Speer2	G	A	16: 69,655,640 (GRCm39)	T62M	probably damaging	Het
Tmco5	A	G	2: 116,717,768 (GRCm39)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,673,361 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,568 (GRCm39)	K336N	probably damaging	Het
Trim60	T	C	8: 65,453,973 (GRCm39)	E92G	probably benign	Het
Ttc21a	C	A	9: 119,773,006 (GRCm39)	Q228K	probably damaging	Het
Ttn	A	T	2: 76,626,804 (GRCm39)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm39)	I168N	probably damaging	Het
Vmn1r167	T	G	7: 23,204,334 (GRCm39)	R227S	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,984 (GRCm39)	I56L	probably benign	Het
Zfp385c	G	A	11: 100,520,782 (GRCm39)	P293S	probably benign	Het
Zfp473	T	A	7: 44,383,899 (GRCm39)	S144C	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
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
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'- GCCAGCAAGGTAGGATGAGCAAT -3'
(R):5'- GGAAGCTCTTCTGTGCCTTCTGTG -3'

Sequencing Primer
(F):5'- tggggggagggtataggg -3'
(R):5'- TTCTGTGGACAATCCACCAG -3'

Posted On

2013-05-23