Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Kpna3'

161408

Institutional Source

Beutler Lab

Gene Symbol

Kpna3

Ensembl Gene

ENSMUSG00000021929

Gene Name

karyopherin (importin) alpha 3

Synonyms

IPOA4

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.621) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61365211-61439874 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 61383220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022496 (fasta)

Gene Model

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

AlphaFold

O35344

Predicted Effect

probably benign
Transcript: ENSMUST00000022496

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411 (GRCm38)	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369 (GRCm38)	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810 (GRCm38)	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721 (GRCm38)	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936 (GRCm38)	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682 (GRCm38)	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047 (GRCm38)	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230 (GRCm38)	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394 (GRCm38)		probably benign	Het
Ccdc127	C	T	13: 74,356,915 (GRCm38)	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036 (GRCm38)	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495 (GRCm38)	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284 (GRCm38)		probably null	Het
Crybg1	T	C	10: 43,975,078 (GRCm38)	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348 (GRCm38)	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880 (GRCm38)	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159 (GRCm38)		probably benign	Het
Epg5	T	C	18: 77,962,427 (GRCm38)	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685 (GRCm38)	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414 (GRCm38)		probably benign	Het
Fam214a	A	T	9: 75,006,321 (GRCm38)	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688 (GRCm38)	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087 (GRCm38)	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128 (GRCm38)	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575 (GRCm38)	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761 (GRCm38)	K347I	probably benign	Het
Helz	T	A	11: 107,592,840 (GRCm38)		probably benign	Het
Hivep3	C	T	4: 120,096,575 (GRCm38)	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834 (GRCm38)		probably benign	Het
Kif13a	A	G	13: 46,791,511 (GRCm38)		probably benign	Het
Mmp15	C	G	8: 95,369,562 (GRCm38)	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263 (GRCm38)	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390 (GRCm38)	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403 (GRCm38)	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381 (GRCm38)	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960 (GRCm38)	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950 (GRCm38)	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963 (GRCm38)	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425 (GRCm38)		probably null	Het
Pknox1	T	C	17: 31,592,092 (GRCm38)		probably benign	Het
Plb1	A	G	5: 32,264,912 (GRCm38)	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904 (GRCm38)	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999 (GRCm38)	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726 (GRCm38)	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707 (GRCm38)		probably benign	Het
Sstr4	A	G	2: 148,396,359 (GRCm38)	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123 (GRCm38)	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355 (GRCm38)	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305 (GRCm38)		probably benign	Het

Other mutations in Kpna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Kpna3	APN	14	61,374,288 (GRCm38)	missense	possibly damaging	0.94
IGL00321:Kpna3	APN	14	61,391,853 (GRCm38)	splice site	probably benign
IGL01013:Kpna3	APN	14	61,370,517 (GRCm38)	missense	probably damaging	1.00
IGL01833:Kpna3	APN	14	61,370,445 (GRCm38)	missense	possibly damaging	0.92
IGL02661:Kpna3	APN	14	61,372,949 (GRCm38)	splice site	probably benign
IGL03070:Kpna3	APN	14	61,370,782 (GRCm38)	splice site	probably benign
R1719:Kpna3	UTSW	14	61,387,477 (GRCm38)	missense	probably damaging	1.00
R1728:Kpna3	UTSW	14	61,367,701 (GRCm38)	missense	probably benign	0.00
R1760:Kpna3	UTSW	14	61,370,541 (GRCm38)	missense	probably benign	0.03
R1784:Kpna3	UTSW	14	61,367,701 (GRCm38)	missense	probably benign	0.00
R2107:Kpna3	UTSW	14	61,370,484 (GRCm38)	missense	possibly damaging	0.52
R4184:Kpna3	UTSW	14	61,368,175 (GRCm38)	missense	probably damaging	0.96
R4952:Kpna3	UTSW	14	61,370,389 (GRCm38)	missense	probably damaging	1.00
R5081:Kpna3	UTSW	14	61,391,245 (GRCm38)	missense	probably damaging	0.97
R5766:Kpna3	UTSW	14	61,403,014 (GRCm38)	missense	probably benign	0.07
R5887:Kpna3	UTSW	14	61,403,012 (GRCm38)	missense	probably benign	0.04
R5927:Kpna3	UTSW	14	61,384,647 (GRCm38)	missense	probably damaging	0.96
R7116:Kpna3	UTSW	14	61,368,186 (GRCm38)	missense	probably benign	0.32
R7615:Kpna3	UTSW	14	61,372,962 (GRCm38)	missense	possibly damaging	0.81
R7674:Kpna3	UTSW	14	61,367,637 (GRCm38)	missense	probably benign
R7799:Kpna3	UTSW	14	61,384,733 (GRCm38)	missense	probably damaging	1.00
R8115:Kpna3	UTSW	14	61,370,918 (GRCm38)	missense	probably damaging	1.00
R8239:Kpna3	UTSW	14	61,387,470 (GRCm38)	missense	probably damaging	1.00
R8896:Kpna3	UTSW	14	61,391,845 (GRCm38)	missense	probably benign	0.11
R9636:Kpna3	UTSW	14	61,387,454 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGGGCAGAGAAAACCCTCAAA -3'
(R):5'- GCTTGTCGCTGGCATCTCCATT -3'

Sequencing Primer
(F):5'- GGATCAAGAAATCAGCATCTCTACTG -3'
(R):5'- tcagaaatccgcctgcc -3'

Posted On

2014-03-14