Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Kpna6'

31583

Institutional Source

Beutler Lab

Gene Symbol

Kpna6

Ensembl Gene

ENSMUSG00000003731

Gene Name

karyopherin (importin) alpha 6

Synonyms

IPOA7, NPI-2

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129643980-129672767 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129657804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 65 (S65R)

Ref Sequence

ENSEMBL: ENSMUSP00000099650 (fasta)

Gene Model

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

AlphaFold

O35345

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003828
AA Change: S62R

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: S62R

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

possibly damaging
Transcript: ENSMUST00000102590
AA Change: S65R

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: S65R

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: S62R

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731
AA Change: S62R

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

0.0727

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688 (GRCm38)	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054 (GRCm38)	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099 (GRCm38)	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678 (GRCm38)	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421 (GRCm38)		probably benign	Het
Cand2	A	G	6: 115,774,653 (GRCm38)	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005 (GRCm38)	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708 (GRCm38)	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476 (GRCm38)	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192 (GRCm38)		probably benign	Het
Cep152	T	C	2: 125,576,869 (GRCm38)		probably benign	Het
Cep290	A	G	10: 100,508,758 (GRCm38)	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111 (GRCm38)	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468 (GRCm38)	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150 (GRCm38)	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655 (GRCm38)		probably benign	Het
Csmd2	T	C	4: 128,133,673 (GRCm38)		probably benign	Het
Cthrc1	A	T	15: 39,086,764 (GRCm38)	*172L	probably null	Het
Cul9	A	T	17: 46,528,589 (GRCm38)	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304 (GRCm38)		probably benign	Het
Dhx58	A	T	11: 100,699,264 (GRCm38)	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913 (GRCm38)	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029 (GRCm38)	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362 (GRCm38)	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501 (GRCm38)	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116 (GRCm38)	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777 (GRCm38)	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355 (GRCm38)		probably benign	Het
Gm13084	T	A	4: 143,811,699 (GRCm38)	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381 (GRCm38)		probably benign	Het
Grin2a	C	A	16: 9,579,585 (GRCm38)	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022 (GRCm38)	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948 (GRCm38)	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990 (GRCm38)		probably benign	Het
Hsd3b1	A	T	3: 98,853,039 (GRCm38)	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094 (GRCm38)		probably null	Het
Igf2bp2	A	G	16: 22,081,801 (GRCm38)	F129L	possibly damaging	Het
Kirrel3	T	A	9: 35,020,163 (GRCm38)	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412 (GRCm38)	I204T	probably damaging	Het
Lama3	A	T	18: 12,407,563 (GRCm38)	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107 (GRCm38)		probably null	Het
Lgr6	C	T	1: 134,994,010 (GRCm38)	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175 (GRCm38)	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315 (GRCm38)	L366P	probably damaging	Het
Mef2a	A	G	7: 67,251,724 (GRCm38)	M100T	probably damaging	Het
Mettl13	G	A	1: 162,538,889 (GRCm38)	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320 (GRCm38)	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804 (GRCm38)	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021 (GRCm38)	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620 (GRCm38)	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966 (GRCm38)	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883 (GRCm38)	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729 (GRCm38)		probably benign	Het
Nfrkb	A	G	9: 31,388,897 (GRCm38)		probably benign	Het
Nlrp4d	T	C	7: 10,388,778 (GRCm38)	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152 (GRCm38)	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297 (GRCm38)		probably benign	Het
Ofcc1	T	A	13: 40,015,313 (GRCm38)	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299 (GRCm38)	I150V	probably benign	Het
Optn	A	G	2: 5,046,195 (GRCm38)	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341 (GRCm38)	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613 (GRCm38)		probably null	Het
Pde5a	T	G	3: 122,835,583 (GRCm38)	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419 (GRCm38)		probably null	Het
Pih1d2	T	A	9: 50,621,046 (GRCm38)	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366 (GRCm38)	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360 (GRCm38)		probably benign	Het
Prdm10	G	A	9: 31,349,268 (GRCm38)		probably null	Het
Prex2	T	A	1: 11,089,706 (GRCm38)		probably null	Het
Prss56	T	G	1: 87,184,730 (GRCm38)		probably null	Het
Prtg	A	G	9: 72,844,958 (GRCm38)	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575 (GRCm38)	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860 (GRCm38)	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634 (GRCm38)	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998 (GRCm38)	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547 (GRCm38)	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677 (GRCm38)	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526 (GRCm38)	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177 (GRCm38)	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386 (GRCm38)	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640 (GRCm38)	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977 (GRCm38)	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231 (GRCm38)	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490 (GRCm38)	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243 (GRCm38)	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179 (GRCm38)	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095 (GRCm38)	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277 (GRCm38)	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573 (GRCm38)		probably benign	Het
Sptlc1	T	C	13: 53,337,612 (GRCm38)	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708 (GRCm38)	N31S	probably benign	Het
Tjp1	T	C	7: 65,314,990 (GRCm38)	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442 (GRCm38)	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109 (GRCm38)	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588 (GRCm38)	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931 (GRCm38)	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021 (GRCm38)	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602 (GRCm38)		probably benign	Het
Ubr5	G	T	15: 38,030,672 (GRCm38)	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148 (GRCm38)	H301L	probably benign	Het
Upf2	T	A	2: 6,018,894 (GRCm38)		probably benign	Het
Utrn	T	C	10: 12,710,060 (GRCm38)	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181 (GRCm38)	D734G	probably damaging	Het
Vmn2r68	C	G	7: 85,233,258 (GRCm38)		probably null	Het
Vmn2r68	T	A	7: 85,233,249 (GRCm38)		probably benign	Het
Vwf	T	A	6: 125,626,361 (GRCm38)	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278 (GRCm38)	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213 (GRCm38)		probably benign	Het
Zfp180	C	T	7: 24,104,707 (GRCm38)	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225 (GRCm38)	Y279N	probably benign	Het

Other mutations in Kpna6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Kpna6	APN	4	129,655,483 (GRCm38)	missense	probably damaging	1.00
IGL02750:Kpna6	APN	4	129,661,377 (GRCm38)	missense	probably damaging	1.00
IGL02904:Kpna6	APN	4	129,650,687 (GRCm38)	missense	probably benign	0.24
IGL02998:Kpna6	APN	4	129,655,504 (GRCm38)	missense	probably benign	0.00
IGL03370:Kpna6	APN	4	129,655,521 (GRCm38)	missense	probably damaging	1.00
krazy_eight	UTSW	4	129,655,428 (GRCm38)	critical splice donor site	probably null
magnificent_seven	UTSW	4	129,649,306 (GRCm38)	nonsense	probably null
R0054:Kpna6	UTSW	4	129,657,458 (GRCm38)	missense	probably benign	0.01
R0054:Kpna6	UTSW	4	129,657,458 (GRCm38)	missense	probably benign	0.01
R0305:Kpna6	UTSW	4	129,649,249 (GRCm38)	missense	probably benign	0.00
R0623:Kpna6	UTSW	4	129,655,416 (GRCm38)	unclassified	probably benign
R0646:Kpna6	UTSW	4	129,650,790 (GRCm38)	missense	probably benign	0.43
R1067:Kpna6	UTSW	4	129,648,103 (GRCm38)	missense	probably benign	0.39
R1348:Kpna6	UTSW	4	129,661,359 (GRCm38)	nonsense	probably null
R1661:Kpna6	UTSW	4	129,657,471 (GRCm38)	missense	probably benign	0.10
R1665:Kpna6	UTSW	4	129,657,471 (GRCm38)	missense	probably benign	0.10
R1766:Kpna6	UTSW	4	129,657,442 (GRCm38)	missense	probably benign	0.33
R4833:Kpna6	UTSW	4	129,657,779 (GRCm38)	missense	possibly damaging	0.51
R4941:Kpna6	UTSW	4	129,648,032 (GRCm38)	missense	probably damaging	1.00
R4974:Kpna6	UTSW	4	129,656,405 (GRCm38)	splice site	probably null
R5244:Kpna6	UTSW	4	129,655,428 (GRCm38)	critical splice donor site	probably null
R5914:Kpna6	UTSW	4	129,672,692 (GRCm38)	unclassified	probably benign
R6148:Kpna6	UTSW	4	129,649,306 (GRCm38)	nonsense	probably null
R6713:Kpna6	UTSW	4	129,653,984 (GRCm38)	missense	probably damaging	1.00
R6799:Kpna6	UTSW	4	129,657,454 (GRCm38)	missense	probably damaging	0.99
R6942:Kpna6	UTSW	4	129,651,721 (GRCm38)	splice site	probably null
R7073:Kpna6	UTSW	4	129,654,346 (GRCm38)	missense	probably damaging	1.00
R7794:Kpna6	UTSW	4	129,648,051 (GRCm38)	missense	probably benign
R7815:Kpna6	UTSW	4	129,657,797 (GRCm38)	missense	probably benign
R8290:Kpna6	UTSW	4	129,661,304 (GRCm38)	critical splice donor site	probably null
R9360:Kpna6	UTSW	4	129,653,842 (GRCm38)	missense	probably benign	0.00
Z1176:Kpna6	UTSW	4	129,655,548 (GRCm38)	missense	probably damaging	1.00
Z1176:Kpna6	UTSW	4	129,648,078 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CGGCTTCTGCTTCCTAAGATCCTCAA -3'
(R):5'- GGCCTCATTTTCCTCATGCTCATAGT -3'

Sequencing Primer
(F):5'- TGATAGGAGGGCTTATCCAATCC -3'
(R):5'- TGCTCATAGTTTCTTGTCATTATGTC -3'

Posted On

2013-04-24