Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Kpna1'

242513

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

040271-MU

Accession Numbers

Essential gene?

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

Stock #

R2271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35803693-35859479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35851591 bp (GRCm39)

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]

AlphaFold

Q60960

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: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,604,719 (GRCm39)	D40Y	probably benign	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,159,403 (GRCm39)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	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
R0456:Kpna1	UTSW	16	35,823,270 (GRCm39)	missense	possibly damaging	0.94
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
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'- CAGAGCTGGGTCTATGCATTC -3'
(R):5'- GAAATTCCTTTCTTAGTGGTCAAGG -3'

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

Posted On

2014-10-16