Mutagenetix > Incidental Mutation

Incidental Mutation 'R5887:Kpna3'

456185

Institutional Source

Beutler Lab

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 #

R5887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61602660-61677323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61640461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 34 (V34I)

Ref Sequence

ENSEMBL: ENSMUSP00000022496 (fasta)

Gene Model

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

AlphaFold

O35344

Predicted Effect

probably benign
Transcript: ENSMUST00000022496
AA Change: V34I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: V34I

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: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,892,124 (GRCm39)	Q129*	probably null	Het
Acad8	A	T	9: 26,890,620 (GRCm39)		probably null	Het
AK157302	T	C	13: 21,679,579 (GRCm39)	I35T	possibly damaging	Het
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Calcrl	A	T	2: 84,200,841 (GRCm39)	W68R	probably damaging	Het
Cd200l1	T	A	16: 45,238,279 (GRCm39)	L178F	probably damaging	Het
Cd59a	A	G	2: 103,934,546 (GRCm39)	R5G	probably damaging	Het
Chl1	C	T	6: 103,694,565 (GRCm39)	A1091V	probably benign	Het
Copg1	T	C	6: 87,879,279 (GRCm39)	F442L	probably damaging	Het
Creld1	T	C	6: 113,469,860 (GRCm39)	*421Q	probably null	Het
Crocc2	T	A	1: 93,121,838 (GRCm39)	H662Q	possibly damaging	Het
Csf2ra	G	A	19: 61,215,766 (GRCm39)	A13V	possibly damaging	Het
Cul3	T	C	1: 80,254,139 (GRCm39)	T546A	possibly damaging	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Dock6	T	A	9: 21,731,690 (GRCm39)	H1173L	probably damaging	Het
Dpysl4	T	C	7: 138,676,192 (GRCm39)	I328T	possibly damaging	Het
Dspp	G	A	5: 104,323,321 (GRCm39)	G155R	probably damaging	Het
Fbxo33	A	T	12: 59,251,545 (GRCm39)	C57*	probably null	Het
Frrs1	T	A	3: 116,690,399 (GRCm39)	V14D	probably benign	Het
Gm13199	C	T	2: 5,867,113 (GRCm39)	G96S	unknown	Het
Gpr155	A	T	2: 73,174,062 (GRCm39)	C754*	probably null	Het
Gpr62	A	T	9: 106,342,814 (GRCm39)	V38E	probably damaging	Het
Kcnt2	C	A	1: 140,353,104 (GRCm39)	P271H	probably damaging	Het
Lamb1	C	T	12: 31,316,863 (GRCm39)	Q71*	probably null	Het
Lipk	T	C	19: 34,016,507 (GRCm39)	I245T	possibly damaging	Het
Lrp1b	T	G	2: 40,711,719 (GRCm39)	N3281T	possibly damaging	Het
Lrp5	A	C	19: 3,654,094 (GRCm39)	I1111S	probably benign	Het
Mmrn1	T	C	6: 60,964,058 (GRCm39)	V1020A	probably benign	Het
Or4c107	G	A	2: 88,789,098 (GRCm39)	C96Y	possibly damaging	Het
Or8b48	G	A	9: 38,493,080 (GRCm39)	C169Y	probably damaging	Het
Or8g34	T	C	9: 39,372,787 (GRCm39)	L17P	probably damaging	Het
Pcdha7	A	T	18: 37,108,960 (GRCm39)	T662S	probably damaging	Het
Pcdhga6	A	G	18: 37,841,612 (GRCm39)	D444G	probably damaging	Het
Pkd2	T	G	5: 104,646,405 (GRCm39)	D737E	probably damaging	Het
Plcd4	C	T	1: 74,590,249 (GRCm39)	R161W	probably damaging	Het
Prpf8	A	G	11: 75,391,734 (GRCm39)	Y1494C	possibly damaging	Het
Rad17	A	C	13: 100,770,369 (GRCm39)		probably null	Het
Rbm17	A	T	2: 11,590,485 (GRCm39)	F390Y	probably damaging	Het
Rhod	A	T	19: 4,489,315 (GRCm39)	L22Q	probably damaging	Het
Serpina1f	T	C	12: 103,656,046 (GRCm39)	D394G	possibly damaging	Het
Serpina1f	G	A	12: 103,659,890 (GRCm39)	Q131*	probably null	Het
Spocd1	A	T	4: 129,842,752 (GRCm39)	S56C	probably damaging	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Tasor	T	A	14: 27,188,254 (GRCm39)	L900*	probably null	Het
Tbx18	T	C	9: 87,595,566 (GRCm39)	D336G	possibly damaging	Het
Tfg	A	T	16: 56,514,779 (GRCm39)	Y135*	probably null	Het
Tjp2	A	G	19: 24,073,963 (GRCm39)	L1108P	probably benign	Het
Tmem150c	C	A	5: 100,243,524 (GRCm39)	V8L	probably benign	Het
Ttn	A	T	2: 76,746,789 (GRCm39)	H4753Q	probably benign	Het
Tyw1	T	A	5: 130,354,540 (GRCm39)	I589N	probably damaging	Het
Usp40	C	T	1: 87,927,592 (GRCm39)	R139Q	probably damaging	Het
Zgrf1	A	G	3: 127,378,414 (GRCm39)	Y174C	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGATTCTCATAAACTTTCACTGA -3'
(R):5'- GCTTTCTAGCTAATCACTGTTTATTGT -3'

Sequencing Primer
(F):5'- CAGCTAGTGACTTTAGATGGCCC -3'
(R):5'- GTACACAGTCATATATTCAGGCAGGC -3'

Posted On

2017-02-15