Mutagenetix > Incidental Mutation

Incidental Mutation 'R9365:Kpna1'

708932

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

Accession Numbers

Essential gene?

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

Stock #

R9365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35803693-35859479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35833287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 121 (V121G)

Ref Sequence

ENSEMBL: ENSMUSP00000004054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004054] [ENSMUST00000172534] [ENSMUST00000173555] [ENSMUST00000173696] [ENSMUST00000174500] [ENSMUST00000174737]

AlphaFold

Q60960

Predicted Effect

probably damaging
Transcript: ENSMUST00000004054
AA Change: V121G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: V121G

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

probably benign
Transcript: ENSMUST00000173555

SMART Domains

Protein: ENSMUSP00000133318
Gene: ENSMUSG00000022905

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173696
AA Change: V121G

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

SMART Domains

Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905
AA Change: V121G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174500
AA Change: V121G

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

SMART Domains

Protein: ENSMUSP00000133819
Gene: ENSMUSG00000022905
AA Change: V121G

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

SMART Domains

Protein: ENSMUSP00000133852
Gene: ENSMUSG00000022905

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ahi1	G	A	10: 20,848,035 (GRCm39)	R481Q	probably damaging	Het
Arhgef3	T	C	14: 27,101,555 (GRCm39)	I77T	probably damaging	Het
Ash1l	T	A	3: 88,889,207 (GRCm39)	V362E	possibly damaging	Het
Bcat2	T	A	7: 45,225,294 (GRCm39)	F57L	probably damaging	Het
Ccdc73	C	T	2: 104,738,011 (GRCm39)	L36F	probably damaging	Het
Ccl19	C	T	4: 42,756,288 (GRCm39)	V15I	probably benign	Het
Cenpe	T	A	3: 134,954,207 (GRCm39)	V1688E	possibly damaging	Het
Ces1a	A	T	8: 93,774,727 (GRCm39)	F4I	probably benign	Het
Chchd6	G	A	6: 89,551,413 (GRCm39)	P83S	probably benign	Het
Cnr1	T	C	4: 33,943,798 (GRCm39)	M62T	probably benign	Het
Colec12	T	C	18: 9,848,146 (GRCm39)	L108P	probably damaging	Het
Cyb5a	T	C	18: 84,894,979 (GRCm39)		probably benign	Het
Dhrs4	C	T	14: 55,724,776 (GRCm39)	T181I	probably benign	Het
Disc1	T	C	8: 125,851,285 (GRCm39)	S392P	probably benign	Het
Dnah3	A	G	7: 119,566,859 (GRCm39)	F69L		Het
Ehmt1	T	C	2: 24,728,722 (GRCm39)	D726G	probably damaging	Het
Epg5	T	A	18: 77,997,957 (GRCm39)	L462I	probably damaging	Het
Exoc2	A	T	13: 31,040,697 (GRCm39)	S774T	probably benign	Het
Fam135b	A	G	15: 71,334,813 (GRCm39)	S794P	probably benign	Het
Frmd4a	T	C	2: 4,606,973 (GRCm39)	V646A	probably benign	Het
Gm3543	G	T	14: 41,804,093 (GRCm39)	D57E	possibly damaging	Het
Golgb1	T	A	16: 36,736,124 (GRCm39)	D1831E	probably damaging	Het
Hace1	T	G	10: 45,586,092 (GRCm39)		probably null	Het
Irgc	T	C	7: 24,131,872 (GRCm39)	E315G	possibly damaging	Het
Ism1	A	G	2: 139,582,321 (GRCm39)	Y211C	probably damaging	Het
Lifr	T	A	15: 7,198,521 (GRCm39)	F250L	probably damaging	Het
Llgl2	A	G	11: 115,740,407 (GRCm39)	T368A	probably benign	Het
Lmln	T	A	16: 32,925,169 (GRCm39)	C467*	probably null	Het
Lrrtm3	T	C	10: 63,923,943 (GRCm39)	E408G	probably benign	Het
Melk	C	T	4: 44,340,693 (GRCm39)	A330V	probably null	Het
Mmp13	T	G	9: 7,277,921 (GRCm39)	D271E	probably benign	Het
Myh11	T	C	16: 14,052,297 (GRCm39)	T390A		Het
Myh8	A	G	11: 67,174,632 (GRCm39)	K249R	probably benign	Het
Nr1h4	T	A	10: 89,319,315 (GRCm39)	M184L	probably damaging	Het
Obscn	T	A	11: 58,885,337 (GRCm39)		probably null	Het
Otog	T	G	7: 45,920,688 (GRCm39)	C964G	probably damaging	Het
Oxct2b	T	C	4: 123,010,589 (GRCm39)	S170P	probably benign	Het
Pcdha4	T	C	18: 37,087,112 (GRCm39)	S432P	possibly damaging	Het
Prb1a	T	A	6: 132,184,201 (GRCm39)	R477S	unknown	Het
Prh1	G	A	6: 132,549,108 (GRCm39)	G205D	unknown	Het
Psg23	C	T	7: 18,344,393 (GRCm39)	G354D	probably damaging	Het
Pura	T	G	18: 36,420,913 (GRCm39)	D233E	possibly damaging	Het
Rb1cc1	G	T	1: 6,315,117 (GRCm39)	L423F	probably damaging	Het
Rimbp3	T	C	16: 17,026,620 (GRCm39)	S15P	possibly damaging	Het
Scn1a	A	G	2: 66,148,465 (GRCm39)	F7L	probably benign	Het
Sftpb	A	T	6: 72,284,189 (GRCm39)	R203*	probably null	Het
Slc30a9	A	G	5: 67,507,142 (GRCm39)	K478R	probably damaging	Het
Slc35f5	T	A	1: 125,496,333 (GRCm39)	M156K	probably benign	Het
Slc41a3	A	G	6: 90,612,327 (GRCm39)	I232V	probably benign	Het
Slit2	A	G	5: 48,461,534 (GRCm39)	D1527G	probably benign	Het
Srfbp1	T	G	18: 52,623,540 (GRCm39)	V389G	possibly damaging	Het
Sun2	C	T	15: 79,622,720 (GRCm39)		probably null	Het
Tep1	G	T	14: 51,064,597 (GRCm39)	A2386D	probably damaging	Het
Tex15	T	A	8: 34,064,564 (GRCm39)	S1331R	possibly damaging	Het
Tgm1	A	T	14: 55,942,349 (GRCm39)	N667K	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Ube4a	T	C	9: 44,862,191 (GRCm39)	H150R	probably benign	Het
Uty	T	C	Y: 1,099,712 (GRCm39)	N1161S	possibly damaging	Het
Vmn2r16	T	A	5: 109,488,064 (GRCm39)	D312E	probably damaging	Het
Wdr55	T	G	18: 36,893,354 (GRCm39)	C5W	probably damaging	Het
Zbtb24	C	A	10: 41,332,540 (GRCm39)	P405Q	probably damaging	Het
Zkscan2	T	A	7: 123,079,591 (GRCm39)	I789F	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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTGTAACTTGACCAAACTC -3'
(R):5'- TAGGATCCTCTCATGCAGACTC -3'

Sequencing Primer
(F):5'- TTGACCAAACTCAATTTTAACCTTTG -3'
(R):5'- GATCCTCTCATGCAGACTCCTACTG -3'

Posted On

2022-04-18