Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Kpna3'

459971

Institutional Source

Beutler Lab

Gene Symbol

Kpna3

Ensembl Gene

ENSMUSG00000021929

Gene Name

karyopherin subunit alpha 3

Synonyms

importin alpha 4, IPOA4, importin alpha 4

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61602660-61677323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61622096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 223 (V223I)

Ref Sequence

ENSEMBL: ENSMUSP00000022496 (fasta)

Gene Model

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

AlphaFold

O35344

Predicted Effect

probably damaging
Transcript: ENSMUST00000022496
AA Change: V223I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: V223I

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

0.0983

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	probably benign	Het

Other mutations in Kpna3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Kpna3	APN	14	61,611,737 (GRCm39)	missense	possibly damaging	0.94
IGL00321:Kpna3	APN	14	61,629,302 (GRCm39)	splice site	probably benign
IGL01013:Kpna3	APN	14	61,607,966 (GRCm39)	missense	probably damaging	1.00
IGL01833:Kpna3	APN	14	61,607,894 (GRCm39)	missense	possibly damaging	0.92
IGL02661:Kpna3	APN	14	61,610,398 (GRCm39)	splice site	probably benign
IGL03070:Kpna3	APN	14	61,608,231 (GRCm39)	splice site	probably benign
R1428:Kpna3	UTSW	14	61,620,669 (GRCm39)	splice site	probably benign
R1719:Kpna3	UTSW	14	61,624,926 (GRCm39)	missense	probably damaging	1.00
R1728:Kpna3	UTSW	14	61,605,150 (GRCm39)	missense	probably benign	0.00
R1760:Kpna3	UTSW	14	61,607,990 (GRCm39)	missense	probably benign	0.03
R1784:Kpna3	UTSW	14	61,605,150 (GRCm39)	missense	probably benign	0.00
R2107:Kpna3	UTSW	14	61,607,933 (GRCm39)	missense	possibly damaging	0.52
R4184:Kpna3	UTSW	14	61,605,624 (GRCm39)	missense	probably damaging	0.96
R4952:Kpna3	UTSW	14	61,607,838 (GRCm39)	missense	probably damaging	1.00
R5081:Kpna3	UTSW	14	61,628,694 (GRCm39)	missense	probably damaging	0.97
R5766:Kpna3	UTSW	14	61,640,463 (GRCm39)	missense	probably benign	0.07
R5887:Kpna3	UTSW	14	61,640,461 (GRCm39)	missense	probably benign	0.04
R7116:Kpna3	UTSW	14	61,605,635 (GRCm39)	missense	probably benign	0.32
R7615:Kpna3	UTSW	14	61,610,411 (GRCm39)	missense	possibly damaging	0.81
R7674:Kpna3	UTSW	14	61,605,086 (GRCm39)	missense	probably benign
R7799:Kpna3	UTSW	14	61,622,182 (GRCm39)	missense	probably damaging	1.00
R8115:Kpna3	UTSW	14	61,608,367 (GRCm39)	missense	probably damaging	1.00
R8239:Kpna3	UTSW	14	61,624,919 (GRCm39)	missense	probably damaging	1.00
R8896:Kpna3	UTSW	14	61,629,294 (GRCm39)	missense	probably benign	0.11
R9636:Kpna3	UTSW	14	61,624,903 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACACTCAACTTTGACATATGGTGTG -3'
(R):5'- GCCATTGCACACATTTCAGAC -3'

Sequencing Primer
(F):5'- CTACAGATTGAGTTTCAGGACAGCC -3'
(R):5'- AGACTTTCTCATCCTGACTGTG -3'

Posted On

2017-02-28