Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01013:Kpna3'

53964

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kpna3

Ensembl Gene

ENSMUSG00000021929

Gene Name

karyopherin subunit alpha 3

Synonyms

importin alpha 4, IPOA4, importin alpha 4

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

61602660-61677323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61607966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 413 (I413K)

Ref Sequence

ENSEMBL: ENSMUSP00000022496 (fasta)

Gene Model

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

AlphaFold

O35344

Predicted Effect

probably damaging
Transcript: ENSMUST00000022496
AA Change: I413K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: I413K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225207

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,034,053 (GRCm39)	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185 (GRCm39)	L2059*	probably null	Het
Ankar	T	A	1: 72,690,148 (GRCm39)	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,671,433 (GRCm39)	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,165,007 (GRCm39)	R1103L	probably benign	Het
B4galt6	A	G	18: 20,822,070 (GRCm39)	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,457,335 (GRCm39)	P1534L	probably benign	Het
Ccdc78	A	G	17: 26,008,028 (GRCm39)	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,616,865 (GRCm39)	R141*	probably null	Het
Cpsf1	G	A	15: 76,483,497 (GRCm39)	Q883*	probably null	Het
Crot	A	G	5: 9,043,575 (GRCm39)	Y16H	probably benign	Het
Cyld	T	G	8: 89,468,990 (GRCm39)	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,188,738 (GRCm39)		probably null	Het
Fam89b	G	T	19: 5,779,397 (GRCm39)	D53E	probably benign	Het
Fig4	T	C	10: 41,143,782 (GRCm39)	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230 (GRCm39)	Y184F	probably damaging	Het
Hp	C	A	8: 110,305,653 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,600 (GRCm39)	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,310,987 (GRCm39)	N620D	possibly damaging	Het
Jakmip3	A	C	7: 138,619,302 (GRCm39)	E228A	possibly damaging	Het
Letm1	A	T	5: 33,919,934 (GRCm39)	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,134 (GRCm39)	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,874,300 (GRCm39)		probably benign	Het
Mcidas	T	A	13: 113,134,119 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,235,281 (GRCm39)		probably null	Het
Mrc1	T	C	2: 14,333,236 (GRCm39)	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 3,980,716 (GRCm39)	Q473K	probably damaging	Het
Muc6	A	T	7: 141,234,333 (GRCm39)	C719*	probably null	Het
Nsun7	T	C	5: 66,440,944 (GRCm39)	I355T	possibly damaging	Het
Padi6	A	G	4: 140,456,314 (GRCm39)	L560P	probably damaging	Het
Parl	C	A	16: 20,101,540 (GRCm39)	A285S	possibly damaging	Het
Pclo	A	T	5: 14,843,848 (GRCm39)	M4795L	unknown	Het
Polr2f	A	G	15: 79,030,329 (GRCm39)	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,454,413 (GRCm39)	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,331,001 (GRCm39)	D44G	probably benign	Het
Slc25a16	A	G	10: 62,780,212 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,074,392 (GRCm39)	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,515,891 (GRCm39)	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,078,055 (GRCm39)		probably null	Het
Tcf7l2	T	C	19: 55,908,059 (GRCm39)		probably benign	Het
Tnrc6c	G	T	11: 117,612,855 (GRCm39)	V498L	probably benign	Het
Tymp	G	A	15: 89,260,513 (GRCm39)	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,365,978 (GRCm39)	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,715,720 (GRCm39)	I41T	probably damaging	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
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
R5927:Kpna3	UTSW	14	61,622,096 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2013-06-28