Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Kpna3'

678056

Institutional Source

Beutler Lab

Gene Symbol

Kpna3

Ensembl Gene

ENSMUSG00000021929

Gene Name

karyopherin (importin) alpha 3

Synonyms

IPOA4

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61365211-61439874 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61391845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 39 (N39D)

Ref Sequence

ENSEMBL: ENSMUSP00000022496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022496]

AlphaFold

O35344

Predicted Effect

probably benign
Transcript: ENSMUST00000022496
AA Change: N39D

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: N39D

Domain	Start	End	E-Value	Type
Pfam:IBB	7	93	1e-25	PFAM
ARM	103	144	9.52e-11	SMART
ARM	146	186	2.15e-9	SMART
ARM	188	229	8.59e0	SMART
ARM	232	271	1.78e-1	SMART
ARM	273	313	4.31e-9	SMART
ARM	315	355	5.91e-7	SMART
ARM	357	397	5.22e-8	SMART
ARM	400	440	1.51e-4	SMART
Pfam:Arm_3	447	499	5.4e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,252,074	S784A	probably benign	Het
Ap3d1	T	A	10: 80,716,591	H581L	probably benign	Het
Atp11a	T	C	8: 12,849,781	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,387,514	D213G	probably benign	Het
Bcl11a	A	G	11: 24,163,640	S328G	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cadps2	T	A	6: 23,410,877	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,853,835	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 180,130,808		probably benign	Het
Cep152	A	T	2: 125,566,235	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,106,626	I404V	probably benign	Het
Cr2	A	T	1: 195,169,273	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,760,253	Y257C	unknown	Het
Dennd1c	T	A	17: 57,074,512	D116V	probably damaging	Het
Dph2	G	A	4: 117,890,378	R270*	probably null	Het
Dpp8	A	C	9: 65,078,036	H792P	possibly damaging	Het
Dupd1	T	C	14: 21,686,695	D113G	probably benign	Het
Efs	T	C	14: 54,920,299	E185G	possibly damaging	Het
Eml3	A	G	19: 8,936,692	E480G	probably damaging	Het
Fam193a	A	G	5: 34,426,484	T336A	probably benign	Het
Fermt1	C	T	2: 132,941,932		probably benign	Het
Galnt4	T	A	10: 99,110,093	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,603,566	T146K	probably damaging	Het
Gbp5	C	T	3: 142,505,547	T346I	probably damaging	Het
Glrx	G	T	13: 75,847,198	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,654,782	T225S	probably damaging	Het
Grm3	A	G	5: 9,512,483	F456L	possibly damaging	Het
Gse1	T	G	8: 120,576,446	S1109A	unknown	Het
Gstp3	A	T	19: 4,058,573	L63Q	probably damaging	Het
Hapln3	G	A	7: 79,117,491	R267W	probably benign	Het
Herc4	T	A	10: 63,311,507	I801N	possibly damaging	Het
Ido1	G	T	8: 24,587,864	D153E	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnj9	T	A	1: 172,325,793	S255C	probably damaging	Het
Krt39	A	T	11: 99,518,269	S269T	probably damaging	Het
Lfng	G	A	5: 140,613,223	V296I	probably benign	Het
Lrit3	T	A	3: 129,791,483	I209F	probably damaging	Het
Map4k5	T	A	12: 69,823,501	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328	P652L	probably benign	Het
Med30	G	A	15: 52,721,120	V145I	possibly damaging	Het
Megf6	T	A	4: 154,242,403	D163E	probably damaging	Het
Meltf	T	A	16: 31,890,704		probably benign	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mppe1	T	C	18: 67,237,401	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673	P1516S	probably benign	Het
Myo3b	C	A	2: 70,238,816	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,165,617	T226A	probably benign	Het
Nod1	A	G	6: 54,944,292	V347A	probably benign	Het
Nup210	A	T	6: 91,042,253		probably null	Het
Nup210l	A	G	3: 90,118,625	R185G	probably damaging	Het
Olfr202	A	T	16: 59,284,089	M136K	probably damaging	Het
Olfr62	A	T	4: 118,666,305	M263L	probably benign	Het
Olfr957	A	G	9: 39,511,474	L82P	probably damaging	Het
Oma1	T	C	4: 103,353,632	L445S	probably damaging	Het
Oxsm	A	T	14: 16,242,677	F31I	probably benign	Het
Pdcd5	A	T	7: 35,647,370	M1K	probably null	Het
Pkd1l2	T	C	8: 117,013,876	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,492,151	S404C	probably null	Het
Plec	A	G	15: 76,194,360	V60A	unknown	Het
Prpsap2	A	G	11: 61,752,910	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804	L239P	probably damaging	Het
Ryr3	A	T	2: 112,753,050	Y2845*	probably null	Het
Spta1	T	C	1: 174,217,982	C1569R	probably damaging	Het
Stard13	G	A	5: 151,062,650	S465L	probably damaging	Het
Tmub1	A	T	5: 24,446,682	S80T	probably benign	Het
Trpv5	A	G	6: 41,670,913	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,503,782	A455V	probably benign	Het
Washc4	T	A	10: 83,570,018	N459K	probably damaging	Het
Wdr11	C	T	7: 129,605,713	R300*	probably null	Het
Zer1	A	G	2: 30,103,418	F559L	probably damaging	Het
Zfat	A	T	15: 68,180,670	V425D	probably damaging	Het
Zfp738	G	A	13: 67,669,791	L694F		Het
Zfp839	C	T	12: 110,868,843	A844V	probably damaging	Het

Other mutations in Kpna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Kpna3	APN	14	61374288	missense	possibly damaging	0.94
IGL00321:Kpna3	APN	14	61391853	splice site	probably benign
IGL01013:Kpna3	APN	14	61370517	missense	probably damaging	1.00
IGL01833:Kpna3	APN	14	61370445	missense	possibly damaging	0.92
IGL02661:Kpna3	APN	14	61372949	splice site	probably benign
IGL03070:Kpna3	APN	14	61370782	splice site	probably benign
R1428:Kpna3	UTSW	14	61383220	splice site	probably benign
R1719:Kpna3	UTSW	14	61387477	missense	probably damaging	1.00
R1728:Kpna3	UTSW	14	61367701	missense	probably benign	0.00
R1760:Kpna3	UTSW	14	61370541	missense	probably benign	0.03
R1784:Kpna3	UTSW	14	61367701	missense	probably benign	0.00
R2107:Kpna3	UTSW	14	61370484	missense	possibly damaging	0.52
R4184:Kpna3	UTSW	14	61368175	missense	probably damaging	0.96
R4952:Kpna3	UTSW	14	61370389	missense	probably damaging	1.00
R5081:Kpna3	UTSW	14	61391245	missense	probably damaging	0.97
R5766:Kpna3	UTSW	14	61403014	missense	probably benign	0.07
R5887:Kpna3	UTSW	14	61403012	missense	probably benign	0.04
R5927:Kpna3	UTSW	14	61384647	missense	probably damaging	0.96
R7116:Kpna3	UTSW	14	61368186	missense	probably benign	0.32
R7615:Kpna3	UTSW	14	61372962	missense	possibly damaging	0.81
R7674:Kpna3	UTSW	14	61367637	missense	probably benign
R7799:Kpna3	UTSW	14	61384733	missense	probably damaging	1.00
R8115:Kpna3	UTSW	14	61370918	missense	probably damaging	1.00
R8239:Kpna3	UTSW	14	61387470	missense	probably damaging	1.00
R9636:Kpna3	UTSW	14	61387454	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTATCACTTGTGGCATTCTGC -3'
(R):5'- CCCCAGGTAAACCCTTATAGTG -3'

Sequencing Primer
(F):5'- TCAGGTAATGATTTAACATGCCTTG -3'
(R):5'- AACCCTTATAGTGTTGGTCAGGACAG -3'

Posted On

2021-08-02