Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Kpna1'

40048

Institutional Source

Beutler Lab

Gene Symbol

Kpna1

Ensembl Gene

ENSMUSG00000022905

Gene Name

karyopherin subunit alpha 1

Synonyms

NPI1, importin alpha 5, mSRP1, m-importin-alpha-S1, Rch2

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R0456 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35803693-35859479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35823270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 41 (S41P)

Ref Sequence

ENSEMBL: ENSMUSP00000133852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004054] [ENSMUST00000173555] [ENSMUST00000173696] [ENSMUST00000174500] [ENSMUST00000174737]

AlphaFold

Q60960

Predicted Effect

probably benign
Transcript: ENSMUST00000004054
AA Change: S63P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: S63P

Domain	Start	End	E-Value	Type
Pfam:IBB	6	104	1.3e-27	PFAM
ARM	115	156	1.47e-2	SMART
ARM	158	198	2.51e-10	SMART
ARM	200	241	7.16e-6	SMART
ARM	244	283	2.22e1	SMART
ARM	285	325	1.45e-6	SMART
ARM	327	367	1.12e-7	SMART
ARM	369	409	1.76e-5	SMART
ARM	412	452	2.91e-6	SMART
Pfam:Arm_3	466	516	6e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172991

Predicted Effect

probably benign
Transcript: ENSMUST00000173555
AA Change: S63P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133318
Gene: ENSMUSG00000022905
AA Change: S63P

Domain	Start	End	E-Value	Type
Pfam:IBB	2	96	1.9e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173696
AA Change: S63P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905
AA Change: S63P

Domain	Start	End	E-Value	Type
Pfam:IBB	2	105	9.3e-31	PFAM
Blast:ARM	114	149	1e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173715

Predicted Effect

probably benign
Transcript: ENSMUST00000174500
AA Change: S63P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133819
Gene: ENSMUSG00000022905
AA Change: S63P

Domain	Start	End	E-Value	Type
Pfam:IBB	2	96	2.8e-31	PFAM
Blast:ARM	114	145	6e-14	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174737
AA Change: S41P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133852
Gene: ENSMUSG00000022905
AA Change: S41P

Domain	Start	End	E-Value	Type
Pfam:IBB	1	83	1.3e-22	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

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. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a gene trap allele do not display any nervous system or behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Kpna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Kpna1	APN	16	35,833,259 (GRCm39)	intron	probably benign
IGL01653:Kpna1	APN	16	35,840,562 (GRCm39)	missense	probably benign
IGL02412:Kpna1	APN	16	35,851,561 (GRCm39)	missense	probably benign	0.06
IGL03102:Kpna1	APN	16	35,833,289 (GRCm39)	missense	probably damaging	1.00
IGL03340:Kpna1	APN	16	35,820,616 (GRCm39)	missense	probably damaging	1.00
R0040:Kpna1	UTSW	16	35,843,611 (GRCm39)	missense	probably damaging	0.97
R0457:Kpna1	UTSW	16	35,823,275 (GRCm39)	missense	probably benign	0.03
R1146:Kpna1	UTSW	16	35,853,749 (GRCm39)	nonsense	probably null
R1146:Kpna1	UTSW	16	35,853,749 (GRCm39)	nonsense	probably null
R1347:Kpna1	UTSW	16	35,829,696 (GRCm39)	missense	probably benign	0.44
R1347:Kpna1	UTSW	16	35,829,696 (GRCm39)	missense	probably benign	0.44
R2225:Kpna1	UTSW	16	35,851,591 (GRCm39)	missense	probably damaging	0.99
R2226:Kpna1	UTSW	16	35,851,591 (GRCm39)	missense	probably damaging	0.99
R2227:Kpna1	UTSW	16	35,851,591 (GRCm39)	missense	probably damaging	0.99
R2251:Kpna1	UTSW	16	35,841,939 (GRCm39)	missense	possibly damaging	0.93
R2252:Kpna1	UTSW	16	35,841,939 (GRCm39)	missense	possibly damaging	0.93
R2271:Kpna1	UTSW	16	35,851,591 (GRCm39)	missense	probably damaging	0.99
R3952:Kpna1	UTSW	16	35,823,252 (GRCm39)	missense	probably benign	0.13
R4771:Kpna1	UTSW	16	35,853,773 (GRCm39)	missense	probably damaging	1.00
R4954:Kpna1	UTSW	16	35,853,696 (GRCm39)	missense	probably damaging	1.00
R5075:Kpna1	UTSW	16	35,829,722 (GRCm39)	missense	probably damaging	1.00
R5824:Kpna1	UTSW	16	35,840,575 (GRCm39)	missense	possibly damaging	0.91
R5873:Kpna1	UTSW	16	35,834,598 (GRCm39)	intron	probably benign
R6221:Kpna1	UTSW	16	35,841,058 (GRCm39)	missense	probably benign	0.02
R6603:Kpna1	UTSW	16	35,849,890 (GRCm39)	critical splice acceptor site	probably null
R7168:Kpna1	UTSW	16	35,836,332 (GRCm39)	intron	probably benign
R7447:Kpna1	UTSW	16	35,850,009 (GRCm39)	missense	probably damaging	1.00
R7872:Kpna1	UTSW	16	35,843,565 (GRCm39)	missense	probably benign	0.00
R7897:Kpna1	UTSW	16	35,854,235 (GRCm39)	missense	probably benign	0.00
R9069:Kpna1	UTSW	16	35,836,381 (GRCm39)	intron	probably benign
R9124:Kpna1	UTSW	16	35,853,644 (GRCm39)	missense	probably benign	0.06
R9233:Kpna1	UTSW	16	35,853,793 (GRCm39)	missense	probably damaging	0.99
R9365:Kpna1	UTSW	16	35,833,287 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGAAGTCTTCTCACCAGGAAACAC -3'
(R):5'- AGCTCCGCAGATCTTAGTTTCTGTCTA -3'

Sequencing Primer
(F):5'- GTCTTCTCACCAGGAAACACTAAAG -3'
(R):5'- aggacaagaaagagggaaatcag -3'

Posted On

2013-05-23