Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Ipo7'

29765

Institutional Source

Beutler Lab

Gene Symbol

Ipo7

Ensembl Gene

ENSMUSG00000066232

Gene Name

importin 7

Synonyms

RanBP7, Imp7, A330055O14Rik

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109617522-109655816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109648868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 714 (Y714H)

Ref Sequence

ENSEMBL: ENSMUSP00000081782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]

AlphaFold

Q9EPL8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082517

Predicted Effect

probably benign
Transcript: ENSMUST00000084731
AA Change: Y714H

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

SMART Domains

Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: Y714H

Domain	Start	End	E-Value	Type
IBN_N	22	101	3.06e-15	SMART
Pfam:Cse1	168	452	2.8e-12	PFAM
low complexity region	701	712	N/A	INTRINSIC
low complexity region	881	900	N/A	INTRINSIC
low complexity region	923	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208821

Predicted Effect

probably benign
Transcript: ENSMUST00000208951

Meta Mutation Damage Score

0.0790

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Ipo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Ipo7	APN	7	109,629,055 (GRCm39)	intron	probably benign
IGL02472:Ipo7	APN	7	109,640,060 (GRCm39)	missense	probably damaging	1.00
IGL02502:Ipo7	APN	7	109,650,257 (GRCm39)	missense	probably damaging	1.00
IGL02514:Ipo7	APN	7	109,648,035 (GRCm39)	missense	possibly damaging	0.78
IGL02535:Ipo7	APN	7	109,653,233 (GRCm39)	missense	probably damaging	0.98
IGL02961:Ipo7	APN	7	109,646,223 (GRCm39)	missense	probably benign	0.02
R0089:Ipo7	UTSW	7	109,649,972 (GRCm39)	intron	probably benign
R0565:Ipo7	UTSW	7	109,648,800 (GRCm39)	intron	probably benign
R1342:Ipo7	UTSW	7	109,629,011 (GRCm39)	missense	possibly damaging	0.82
R1405:Ipo7	UTSW	7	109,638,456 (GRCm39)	missense	probably damaging	0.97
R1405:Ipo7	UTSW	7	109,638,456 (GRCm39)	missense	probably damaging	0.97
R1405:Ipo7	UTSW	7	109,629,048 (GRCm39)	missense	probably benign	0.03
R1405:Ipo7	UTSW	7	109,629,048 (GRCm39)	missense	probably benign	0.03
R1791:Ipo7	UTSW	7	109,626,339 (GRCm39)	missense	probably damaging	0.98
R1838:Ipo7	UTSW	7	109,641,316 (GRCm39)	missense	probably damaging	1.00
R2116:Ipo7	UTSW	7	109,650,325 (GRCm39)	missense	probably damaging	0.99
R2120:Ipo7	UTSW	7	109,648,838 (GRCm39)	missense	probably damaging	1.00
R4366:Ipo7	UTSW	7	109,647,423 (GRCm39)	missense	possibly damaging	0.88
R4366:Ipo7	UTSW	7	109,628,919 (GRCm39)	missense	possibly damaging	0.58
R4805:Ipo7	UTSW	7	109,650,691 (GRCm39)	missense	probably benign	0.16
R5228:Ipo7	UTSW	7	109,645,969 (GRCm39)	missense	probably benign	0.00
R5903:Ipo7	UTSW	7	109,650,020 (GRCm39)	missense	probably damaging	1.00
R5976:Ipo7	UTSW	7	109,648,014 (GRCm39)	missense	probably damaging	1.00
R6254:Ipo7	UTSW	7	109,648,267 (GRCm39)	missense	probably benign	0.00
R6335:Ipo7	UTSW	7	109,617,675 (GRCm39)	missense	possibly damaging	0.92
R6360:Ipo7	UTSW	7	109,626,336 (GRCm39)	missense	probably damaging	1.00
R6776:Ipo7	UTSW	7	109,646,272 (GRCm39)	missense	probably damaging	0.98
R7132:Ipo7	UTSW	7	109,653,254 (GRCm39)	missense	probably benign	0.17
R7329:Ipo7	UTSW	7	109,648,224 (GRCm39)	missense	possibly damaging	0.94
R7491:Ipo7	UTSW	7	109,638,401 (GRCm39)	missense	possibly damaging	0.91
R7763:Ipo7	UTSW	7	109,652,006 (GRCm39)	missense	possibly damaging	0.62
R8070:Ipo7	UTSW	7	109,652,014 (GRCm39)	missense	probably benign	0.01
R8479:Ipo7	UTSW	7	109,638,452 (GRCm39)	missense	probably benign	0.23
R8547:Ipo7	UTSW	7	109,652,000 (GRCm39)	missense	probably benign	0.01
R8839:Ipo7	UTSW	7	109,641,223 (GRCm39)	missense	probably damaging	1.00
R8897:Ipo7	UTSW	7	109,643,943 (GRCm39)	critical splice donor site	probably null
R9024:Ipo7	UTSW	7	109,643,943 (GRCm39)	critical splice donor site	probably null
R9089:Ipo7	UTSW	7	109,643,666 (GRCm39)	missense	possibly damaging	0.79
R9245:Ipo7	UTSW	7	109,643,826 (GRCm39)	missense	probably damaging	1.00
RF017:Ipo7	UTSW	7	109,648,001 (GRCm39)	missense	probably benign	0.00
X0062:Ipo7	UTSW	7	109,652,093 (GRCm39)	missense	probably damaging	1.00
X0066:Ipo7	UTSW	7	109,651,941 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTGTGATAGTGTTAACTTCTCCTCTGCC -3'
(R):5'- TCCTACTTCGATCCACAACCATGAGTAA -3'

Sequencing Primer
(F):5'- ACAAGTGTATTAGGAGTTCAGAGTC -3'
(R):5'- TCCACAACCATGAGTAAATCATGTC -3'

Posted On

2013-04-24