Mutagenetix > Incidental Mutation

Incidental Mutation 'R8115:Kpna3'

631155

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

067544-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.645) question?

Stock #

R8115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61602660-61677323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61608367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 364 (V364L)

Ref Sequence

ENSEMBL: ENSMUSP00000022496 (fasta)

Gene Model

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

AlphaFold

O35344

Predicted Effect

probably damaging
Transcript: ENSMUST00000022496
AA Change: V364L

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

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: V364L

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: 99.7%
3x: 99.5%
10x: 98.4%
20x: 94.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,996 (GRCm39)	I211L	probably benign	Het
Abhd16b	G	A	2: 181,135,527 (GRCm39)	R143H	possibly damaging	Het
Abt1	T	C	13: 23,606,402 (GRCm39)	E184G	probably damaging	Het
Aqp1	AGG	AGGG	6: 55,322,498 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,642 (GRCm39)	R877Q	probably damaging	Het
B3galt1	A	G	2: 67,948,320 (GRCm39)	T12A	possibly damaging	Het
Bcat1	G	A	6: 144,955,819 (GRCm39)	P354L	probably damaging	Het
C9orf72	T	C	4: 35,218,763 (GRCm39)	Y32C		Het
Cad	T	C	5: 31,218,271 (GRCm39)	F452L	possibly damaging	Het
Cadps2	T	A	6: 23,328,897 (GRCm39)	I973F	probably benign	Het
Cenpq	T	C	17: 41,243,720 (GRCm39)	N43D	probably damaging	Het
Chd9	G	T	8: 91,762,960 (GRCm39)	V2262L	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,402 (GRCm39)	Q161K	probably damaging	Het
D630003M21Rik	A	T	2: 158,058,510 (GRCm39)	H463Q	probably benign	Het
Defb1	C	T	8: 22,284,500 (GRCm39)	H40Y	probably benign	Het
Dmrtb1	A	T	4: 107,534,256 (GRCm39)	D186E	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efr3a	T	A	15: 65,738,644 (GRCm39)	F758I	probably damaging	Het
Fap	A	G	2: 62,349,385 (GRCm39)	I501T	probably benign	Het
Galr3	C	T	15: 78,927,524 (GRCm39)	R322*	probably null	Het
Hrnr	C	A	3: 93,231,039 (GRCm39)	R426S	unknown	Het
Hsp90ab1	A	T	17: 45,880,201 (GRCm39)	M476K	possibly damaging	Het
Igsf3	G	T	3: 101,362,595 (GRCm39)	R872L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Iqsec3	T	G	6: 121,449,989 (GRCm39)	R178S	unknown	Het
Itgbl1	T	C	14: 124,094,955 (GRCm39)	C327R	probably damaging	Het
Itsn2	A	T	12: 4,723,602 (GRCm39)	Q1179L	possibly damaging	Het
Kcnb2	T	C	1: 15,781,851 (GRCm39)	*908R	probably null	Het
Kdm5b	G	T	1: 134,547,411 (GRCm39)	W1020L	possibly damaging	Het
Lsm14a	T	C	7: 34,074,662 (GRCm39)	I93V	probably benign	Het
Mast2	A	G	4: 116,292,644 (GRCm39)	S109P	probably benign	Het
Muc4	G	A	16: 32,575,678 (GRCm39)	S1726N	unknown	Het
Myo7a	T	C	7: 97,715,653 (GRCm39)	D1477G	probably damaging	Het
Nostrin	G	A	2: 69,011,264 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,074,996 (GRCm39)	V352E	probably damaging	Het
Or9a2	T	A	6: 41,748,472 (GRCm39)	T254S	probably benign	Het
Pafah1b1	A	G	11: 74,575,319 (GRCm39)	V195A	probably damaging	Het
Pcdhb4	G	A	18: 37,442,453 (GRCm39)	V588M	probably damaging	Het
Pcsk5	A	G	19: 17,487,530 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,756,707 (GRCm39)	I428V	unknown	Het
Pmfbp1	G	A	8: 110,263,669 (GRCm39)	V824M	probably damaging	Het
Prkag3	T	C	1: 74,787,118 (GRCm39)	R47G	possibly damaging	Het
Prl8a1	T	A	13: 27,758,028 (GRCm39)	H227L	probably benign	Het
Prune2	A	G	19: 17,101,288 (GRCm39)	D2264G	probably benign	Het
Psg28	A	G	7: 18,164,311 (GRCm39)	Y134H	probably benign	Het
Rab3gap2	T	A	1: 184,999,447 (GRCm39)	Y1019N	possibly damaging	Het
Rbm15	A	T	3: 107,238,966 (GRCm39)	F477L	probably damaging	Het
Ric1	A	T	19: 29,563,973 (GRCm39)	N576Y	probably damaging	Het
S1pr1	T	A	3: 115,506,298 (GRCm39)	T99S	probably benign	Het
Serpinb9b	G	T	13: 33,219,531 (GRCm39)	V153F	probably null	Het
Sh2d3c	A	G	2: 32,615,276 (GRCm39)	E122G	probably benign	Het
Slc6a11	T	A	6: 114,108,442 (GRCm39)	W69R	probably damaging	Het
Slco6c1	T	A	1: 97,000,686 (GRCm39)	I539F	probably damaging	Het
Smgc	G	T	15: 91,733,322 (GRCm39)		probably null	Het
Spata17	T	C	1: 186,849,653 (GRCm39)	Y194C	probably damaging	Het
Tap1	A	T	17: 34,412,293 (GRCm39)		probably null	Het
Topbp1	T	C	9: 103,197,740 (GRCm39)	S440P	probably benign	Het
Trpc6	T	C	9: 8,609,982 (GRCm39)	L150P	probably damaging	Het
Ttll4	C	T	1: 74,726,489 (GRCm39)	Q696*	probably null	Het
Ubash3b	C	T	9: 40,937,624 (GRCm39)	E447K	probably damaging	Het
Unc5cl	T	C	17: 48,774,438 (GRCm39)	S477P	possibly damaging	Het
Unc80	A	G	1: 66,688,072 (GRCm39)	T2357A	probably benign	Het
Vmn1r58	A	T	7: 5,413,341 (GRCm39)	S296R	probably benign	Het
Vmn2r85	G	T	10: 130,261,820 (GRCm39)	N172K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yipf7	T	A	5: 69,684,570 (GRCm39)	T82S	probably benign	Het
Zap70	A	G	1: 36,820,287 (GRCm39)	S523G	probably damaging	Het
Zfp354a	A	G	11: 50,960,490 (GRCm39)	T233A	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
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
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'- GTTAAGTTGCTAATTGCCCAAGC -3'
(R):5'- AGTCTTGCACAACCGATCAC -3'

Sequencing Primer
(F):5'- AGCAGCTTCCTTTTGTGTTCCAAAG -3'
(R):5'- TGCACAACCGATCACTTTTTAG -3'

Posted On

2020-06-30