Mutagenetix > Incidental Mutation

Incidental Mutation 'R0457:Kpna1'

41253

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

038657-MU

Accession Numbers

Essential gene?

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

Stock #

R0457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35803693-35859479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35823275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 42 (D42E)

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: D64E

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

SMART Domains

Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: D64E

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: D64E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133318
Gene: ENSMUSG00000022905
AA Change: D64E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173696
AA Change: D64E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905
AA Change: D64E

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: D64E

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

SMART Domains

Protein: ENSMUSP00000133819
Gene: ENSMUSG00000022905
AA Change: D64E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174737
AA Change: D42E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133852
Gene: ENSMUSG00000022905
AA Change: D42E

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,844,054 (GRCm39)	I249M	possibly damaging	Het
Adcy5	T	C	16: 35,094,915 (GRCm39)	S691P	probably benign	Het
Ajm1	G	T	2: 25,468,358 (GRCm39)	R518S	possibly damaging	Het
Aspscr1	A	G	11: 120,568,444 (GRCm39)	E12G	probably benign	Het
Atp2a2	T	C	5: 122,607,777 (GRCm39)	Q244R	probably benign	Het
Birc6	A	G	17: 74,959,023 (GRCm39)	M3818V	probably benign	Het
Birc6	C	T	17: 74,969,620 (GRCm39)	A4230V	probably damaging	Het
Bub1b	T	C	2: 118,440,340 (GRCm39)	F148S	probably damaging	Het
C1ra	T	C	6: 124,499,712 (GRCm39)	S633P	probably benign	Het
Cacna2d1	A	G	5: 16,472,414 (GRCm39)	T274A	probably damaging	Het
Cmya5	A	G	13: 93,232,095 (GRCm39)	W998R	possibly damaging	Het
Crbn	T	C	6: 106,758,018 (GRCm39)	K404R	probably benign	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Csmd1	C	A	8: 16,551,407 (GRCm39)		probably null	Het
Defa-ps1	A	T	8: 22,185,758 (GRCm39)		noncoding transcript	Het
Dnajc10	T	A	2: 80,175,290 (GRCm39)	V559D	possibly damaging	Het
Dock1	A	T	7: 134,739,874 (GRCm39)	E1423D	possibly damaging	Het
Dpf3	A	T	12: 83,319,179 (GRCm39)	S44T	probably damaging	Het
Dyrk3	A	T	1: 131,064,094 (GRCm39)	V31D	possibly damaging	Het
F5	T	C	1: 164,021,769 (GRCm39)	S1415P	probably benign	Het
Fam186b	A	C	15: 99,169,166 (GRCm39)	I927S	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fer1l6	G	A	15: 58,509,943 (GRCm39)		probably null	Het
Fndc7	G	T	3: 108,783,861 (GRCm39)	S249R	probably benign	Het
Ganab	A	G	19: 8,884,614 (GRCm39)	E139G	possibly damaging	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gm17324	T	A	9: 78,355,580 (GRCm39)	M1K	probably null	Het
Gtpbp6	T	A	5: 110,254,608 (GRCm39)	R126S	probably damaging	Het
Hapln4	G	A	8: 70,541,122 (GRCm39)	W385*	probably null	Het
Hmcn2	T	A	2: 31,305,296 (GRCm39)		probably null	Het
Hsp90ab1	A	G	17: 45,879,914 (GRCm39)	V534A	probably damaging	Het
Kat6b	C	A	14: 21,720,598 (GRCm39)	T1650K	probably damaging	Het
Lrrc14b	A	G	13: 74,509,279 (GRCm39)	M376T	probably benign	Het
Lrrc40	A	G	3: 157,760,201 (GRCm39)		probably null	Het
Ltv1	T	C	10: 13,067,887 (GRCm39)	T34A	probably benign	Het
Mga	T	A	2: 119,746,969 (GRCm39)	N373K	probably damaging	Het
Msh3	A	T	13: 92,357,505 (GRCm39)	M101K	probably damaging	Het
Mthfd2l	T	C	5: 91,168,065 (GRCm39)	M320T	possibly damaging	Het
Mug1	G	A	6: 121,838,514 (GRCm39)	E506K	probably benign	Het
Ngb	T	C	12: 87,147,503 (GRCm39)	D54G	probably damaging	Het
Ntrk1	A	G	3: 87,699,014 (GRCm39)	F84L	probably benign	Het
Or1j18	A	T	2: 36,624,545 (GRCm39)	I71F	probably benign	Het
Or52n2b	T	A	7: 104,566,180 (GRCm39)	T108S	probably benign	Het
Phf12	T	A	11: 77,908,994 (GRCm39)	I358N	possibly damaging	Het
Plec	A	G	15: 76,061,801 (GRCm39)	F2577S	probably damaging	Het
Polr1c	T	A	17: 46,558,689 (GRCm39)	Y36F	probably benign	Het
Prkd1	A	T	12: 50,413,155 (GRCm39)	M672K	probably damaging	Het
Prob1	T	C	18: 35,785,539 (GRCm39)	Y905C	probably damaging	Het
Ptpn23	T	A	9: 110,215,361 (GRCm39)	H1433L	possibly damaging	Het
Rnf11	A	T	4: 109,314,149 (GRCm39)	L80Q	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Scgb2b7	A	T	7: 31,403,437 (GRCm39)	C90S	possibly damaging	Het
Slc4a9	T	C	18: 36,668,471 (GRCm39)	L710P	probably damaging	Het
Spire1	T	A	18: 67,685,670 (GRCm39)	I35F	probably damaging	Het
Sptbn2	T	C	19: 4,795,966 (GRCm39)	V1715A	possibly damaging	Het
St7	T	C	6: 17,819,281 (GRCm39)	F62L	probably damaging	Het
Svep1	C	T	4: 58,118,136 (GRCm39)	G862D	probably damaging	Het
Syne1	A	T	10: 4,972,041 (GRCm39)	M8789K	probably damaging	Het
Synpo2	A	G	3: 122,906,421 (GRCm39)	L965P	probably damaging	Het
Trhde	A	T	10: 114,284,167 (GRCm39)	M772K	probably benign	Het
Ttn	T	A	2: 76,608,851 (GRCm39)	K15976*	probably null	Het
Unc13a	A	C	8: 72,110,645 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,851,318 (GRCm39)	E1214G	possibly damaging	Het
Vmn1r29	T	C	6: 58,285,072 (GRCm39)	V264A	probably benign	Het
Vmn1r60	T	A	7: 5,548,118 (GRCm39)		probably benign	Het
Wdr90	C	T	17: 26,079,459 (GRCm39)	R225H	probably benign	Het
Wnk1	G	A	6: 119,946,293 (GRCm39)	T620I	probably damaging	Het
Zan	C	T	5: 137,405,968 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,902 (GRCm39)	C387*	probably null	Het
Zfp521	T	C	18: 13,977,897 (GRCm39)	T839A	probably benign	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
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'- TCTGAAGTCTTCTCACCAGGAAACACT -3'
(R):5'- AAGCTCCGCAGATCTTAGTTTCTGTC -3'

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

Posted On

2013-05-23