Mutagenetix > Incidental Mutations

Incidental Mutation 'R2271:Kpna1'

242513

Institutional Source

Beutler Lab

Gene Symbol

Kpna1

Ensembl Gene

ENSMUSG00000022905

Gene Name

karyopherin (importin) alpha 1

Synonyms

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

MMRRC Submission

040271-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35978750-36037131 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36031221 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 392 (A392T)

Ref Sequence

ENSEMBL: ENSMUSP00000004054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004054] [ENSMUST00000172534] [ENSMUST00000173696]

Predicted Effect

probably damaging
Transcript: ENSMUST00000004054
AA Change: A392T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: A392T

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

probably benign
Transcript: ENSMUST00000172534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173641

SMART Domains

Protein: ENSMUSP00000133664
Gene: ENSMUSG00000022905

Domain	Start	End	E-Value	Type
ARM	16	57	7.16e-6	SMART
ARM	60	99	2.22e1	SMART
ARM	117	157	6.39e-3	SMART
Pfam:Arm_3	171	221	1.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173696

SMART Domains

Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905

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

Meta Mutation Damage Score

0.2681

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,981,579	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,558,873	K574*	probably null	Het
Adam22	T	C	5: 8,121,108	E614G	probably damaging	Het
Ap4e1	T	C	2: 127,047,163		probably null	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094	S611C	probably damaging	Het
Birc6	T	C	17: 74,602,971	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,399,721	D40Y	probably benign	Het
Ccdc83	C	T	7: 90,224,077	V357I	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532	D612G	probably damaging	Het
Chst11	T	C	10: 83,191,170	Y144H	probably damaging	Het
Cops6	A	T	5: 138,161,141	N10I	probably benign	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Cyp27a1	A	G	1: 74,736,687	N344D	probably damaging	Het
Des	T	G	1: 75,363,493	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883	D109V	probably damaging	Het
Disp3	C	T	4: 148,271,602	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,975,129	I2136F	probably benign	Het
Dnah9	T	C	11: 66,112,362	D872G	probably benign	Het
Dnajb14	G	A	3: 137,885,380	G31S	probably benign	Het
Dopey1	T	G	9: 86,494,418	V235G	probably damaging	Het
Efcab6	T	A	15: 83,946,999	R571S	probably benign	Het
Emsy	T	G	7: 98,626,623	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgfbp1	T	A	5: 43,979,330	M207L	probably benign	Het
Filip1	T	C	9: 79,819,930	E469G	probably damaging	Het
Garem2	T	G	5: 30,116,974	L777R	probably damaging	Het
Gm8394	A	G	10: 85,313,731		noncoding transcript	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Hkdc1	T	C	10: 62,417,898	T35A	probably benign	Het
Hps6	C	T	19: 46,005,682	A686V	possibly damaging	Het
Irs1	T	C	1: 82,288,459	S679G	probably benign	Het
Ism1	T	A	2: 139,757,373	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,064,088		probably null	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Mocs1	A	T	17: 49,449,109	K198M	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msh5	A	G	17: 35,044,390	I154T	probably benign	Het
Muc6	T	A	7: 141,637,510	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Neu3	G	C	7: 99,813,443	R358G	probably benign	Het
Ntrk3	A	C	7: 78,516,723		probably null	Het
Olfr1045	A	G	2: 86,197,817	F312L	probably benign	Het
Olfr351	G	A	2: 36,859,625	S241F	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pik3c2b	T	C	1: 133,103,428	S1491P	probably benign	Het
Plb1	G	T	5: 32,293,242	D376Y	probably damaging	Het
Plch1	T	A	3: 63,744,535	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,387,122	E383K	probably benign	Het
Plxnb1	T	C	9: 109,102,708		probably null	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prpf8	T	A	11: 75,495,363	V946E	probably damaging	Het
Ptprh	C	A	7: 4,603,133		probably benign	Het
Rngtt	T	A	4: 33,500,302	C565*	probably null	Het
Sacs	A	G	14: 61,204,660	H1385R	probably benign	Het
Sec24a	A	G	11: 51,716,450	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,999,026	I251L	possibly damaging	Het
Shc1	G	A	3: 89,423,542	G91S	probably damaging	Het
Sin3b	T	A	8: 72,733,419	N211K	probably benign	Het
Slc22a2	A	T	17: 12,586,805	M148L	probably benign	Het
Slc3a1	G	A	17: 85,063,792	V591I	probably benign	Het
Slc47a2	A	T	11: 61,328,526		probably null	Het
Spag17	C	T	3: 100,106,797	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,245,604	S278F	probably damaging	Het
Sphkap	T	A	1: 83,257,221	D1628V	probably damaging	Het
Themis3	C	T	17: 66,555,704	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,217,246	K445E	probably damaging	Het
U2surp	T	C	9: 95,491,420	E232G	possibly damaging	Het
Usp25	T	A	16: 77,076,429	F458L	probably damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,114,103	T227A	probably damaging	Het
Zcchc12	C	T	X: 36,198,465	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,225,547	G413D	probably damaging	Het

Other mutations in Kpna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Kpna1	APN	16	36012889	intron	probably benign
IGL01653:Kpna1	APN	16	36020192	missense	probably benign
IGL02412:Kpna1	APN	16	36031191	missense	probably benign	0.06
IGL03102:Kpna1	APN	16	36012919	missense	probably damaging	1.00
IGL03340:Kpna1	APN	16	36000246	missense	probably damaging	1.00
R0040:Kpna1	UTSW	16	36023241	missense	probably damaging	0.97
R0456:Kpna1	UTSW	16	36002900	missense	possibly damaging	0.94
R0457:Kpna1	UTSW	16	36002905	missense	probably benign	0.03
R1146:Kpna1	UTSW	16	36033379	nonsense	probably null
R1146:Kpna1	UTSW	16	36033379	nonsense	probably null
R1347:Kpna1	UTSW	16	36009326	missense	probably benign	0.44
R1347:Kpna1	UTSW	16	36009326	missense	probably benign	0.44
R2225:Kpna1	UTSW	16	36031221	missense	probably damaging	0.99
R2226:Kpna1	UTSW	16	36031221	missense	probably damaging	0.99
R2227:Kpna1	UTSW	16	36031221	missense	probably damaging	0.99
R2251:Kpna1	UTSW	16	36021569	missense	possibly damaging	0.93
R2252:Kpna1	UTSW	16	36021569	missense	possibly damaging	0.93
R3952:Kpna1	UTSW	16	36002882	missense	probably benign	0.13
R4771:Kpna1	UTSW	16	36033403	missense	probably damaging	1.00
R4954:Kpna1	UTSW	16	36033326	missense	probably damaging	1.00
R5075:Kpna1	UTSW	16	36009352	missense	probably damaging	1.00
R5824:Kpna1	UTSW	16	36020205	missense	possibly damaging	0.91
R5873:Kpna1	UTSW	16	36014228	intron	probably benign
R6221:Kpna1	UTSW	16	36020688	missense	probably benign	0.02
R6603:Kpna1	UTSW	16	36029520	critical splice acceptor site	probably null
R7168:Kpna1	UTSW	16	36015962	intron	probably benign
R7447:Kpna1	UTSW	16	36029639	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGCTGGGTCTATGCATTC -3'
(R):5'- GAAATTCCTTTCTTAGTGGTCAAGG -3'

Sequencing Primer
(F):5'- GTCTACTTAGCAAGTTCCAGGTCAG -3'
(R):5'- CCTTTCTTAGTGGTCAAGGTTTTAG -3'

Posted On

2014-10-16