Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:Ipo7'

155380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ipo7

Ensembl Gene

ENSMUSG00000066232

Gene Name

importin 7

Synonyms

A330055O14Rik, Imp7, RanBP7

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

110018274-110056609 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 110029848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146367 (fasta)

Gene Model

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

AlphaFold

Q9EPL8

Predicted Effect

probably benign
Transcript: ENSMUST00000084731

SMART Domains

Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232

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: ENSMUST00000208408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208821

Predicted Effect

probably benign
Transcript: ENSMUST00000208951

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,513,209	Y511H	probably damaging	Het
Abca7	T	G	10: 80,013,909	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,858,975	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,567,342	D909V	probably benign	Het
Anapc16	T	C	10: 59,988,757	E119G	possibly damaging	Het
C1qtnf12	T	C	4: 155,966,429	V285A	possibly damaging	Het
Cbr1	A	C	16: 93,608,231	N89T	probably damaging	Het
Cdh23	T	A	10: 60,311,137	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,889,579		noncoding transcript	Het
Cst9	T	C	2: 148,835,349	F47L	probably damaging	Het
Dqx1	T	C	6: 83,066,427		probably benign	Het
Dus4l	T	C	12: 31,642,795	S150G	probably benign	Het
E2f2	A	T	4: 136,180,417	K142*	probably null	Het
Eif2ak4	T	A	2: 118,446,304	H169Q	probably benign	Het
Fmo9	C	T	1: 166,663,335	A525T	probably benign	Het
Gm42878	T	C	5: 121,545,184	D6G	probably benign	Het
Igfals	A	G	17: 24,880,082	Y49C	probably damaging	Het
Iltifb	T	C	10: 118,290,164	N176S	possibly damaging	Het
Itga1	T	C	13: 114,985,121	E784G	probably damaging	Het
Jcad	G	T	18: 4,672,855	E206*	probably null	Het
Kif24	A	T	4: 41,392,978		probably benign	Het
Lrrc2	T	A	9: 110,980,818		probably null	Het
Ltbp1	A	G	17: 75,227,245		probably benign	Het
Man2c1	C	T	9: 57,137,960	T451I	possibly damaging	Het
Manba	T	A	3: 135,542,389	N346K	probably damaging	Het
Nell1	T	C	7: 50,176,216		probably benign	Het
Nfat5	T	C	8: 107,367,641	V744A	probably damaging	Het
Nms	T	C	1: 38,946,111	M98T	possibly damaging	Het
Nos1	A	T	5: 117,938,274	K1120*	probably null	Het
Olfr741	C	A	14: 50,485,541	Q28K	probably benign	Het
Plekho1	C	T	3: 95,990,835	R172H	probably damaging	Het
Pot1b	A	T	17: 55,669,750	C391S	possibly damaging	Het
Scn1a	G	A	2: 66,332,301		probably benign	Het
Sgce	T	G	6: 4,711,326	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,643,969	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,420,093		probably benign	Het
Tmem131l	T	A	3: 83,938,055	K423*	probably null	Het
Tnrc18	C	T	5: 142,764,887	E1444K	possibly damaging	Het
Tpp1	T	C	7: 105,747,650		probably benign	Het
Trip12	A	C	1: 84,728,278	S610R	probably benign	Het
Ushbp1	G	T	8: 71,387,432	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,268,052	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,608,585	I455T	probably benign	Het
Zbtb41	T	C	1: 139,442,883	F686S	probably damaging	Het

Other mutations in Ipo7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02472:Ipo7	APN	7	110040853	missense	probably damaging	1.00
IGL02502:Ipo7	APN	7	110051050	missense	probably damaging	1.00
IGL02514:Ipo7	APN	7	110048828	missense	possibly damaging	0.78
IGL02535:Ipo7	APN	7	110054026	missense	probably damaging	0.98
IGL02961:Ipo7	APN	7	110047016	missense	probably benign	0.02
R0089:Ipo7	UTSW	7	110050765	intron	probably benign
R0355:Ipo7	UTSW	7	110049661	missense	probably benign	0.00
R0565:Ipo7	UTSW	7	110049593	intron	probably benign
R1342:Ipo7	UTSW	7	110029804	missense	possibly damaging	0.82
R1405:Ipo7	UTSW	7	110029841	missense	probably benign	0.03
R1405:Ipo7	UTSW	7	110039249	missense	probably damaging	0.97
R1405:Ipo7	UTSW	7	110029841	missense	probably benign	0.03
R1405:Ipo7	UTSW	7	110039249	missense	probably damaging	0.97
R1791:Ipo7	UTSW	7	110027132	missense	probably damaging	0.98
R1838:Ipo7	UTSW	7	110042109	missense	probably damaging	1.00
R2116:Ipo7	UTSW	7	110051118	missense	probably damaging	0.99
R2120:Ipo7	UTSW	7	110049631	missense	probably damaging	1.00
R4366:Ipo7	UTSW	7	110029712	missense	possibly damaging	0.58
R4366:Ipo7	UTSW	7	110048216	missense	possibly damaging	0.88
R4805:Ipo7	UTSW	7	110051484	missense	probably benign	0.16
R5228:Ipo7	UTSW	7	110046762	missense	probably benign	0.00
R5903:Ipo7	UTSW	7	110050813	missense	probably damaging	1.00
R5976:Ipo7	UTSW	7	110048807	missense	probably damaging	1.00
R6254:Ipo7	UTSW	7	110049060	missense	probably benign	0.00
R6335:Ipo7	UTSW	7	110018468	missense	possibly damaging	0.92
R6360:Ipo7	UTSW	7	110027129	missense	probably damaging	1.00
R6776:Ipo7	UTSW	7	110047065	missense	probably damaging	0.98
R7132:Ipo7	UTSW	7	110054047	missense	probably benign	0.17
R7329:Ipo7	UTSW	7	110049017	missense	possibly damaging	0.94
R7491:Ipo7	UTSW	7	110039194	missense	possibly damaging	0.91
R7763:Ipo7	UTSW	7	110052799	missense	possibly damaging	0.62
R8070:Ipo7	UTSW	7	110052807	missense	probably benign	0.01
R8479:Ipo7	UTSW	7	110039245	missense	probably benign	0.23
R8547:Ipo7	UTSW	7	110052793	missense	probably benign	0.01
R8839:Ipo7	UTSW	7	110042016	missense	probably damaging	1.00
R8897:Ipo7	UTSW	7	110044736	critical splice donor site	probably null
R9024:Ipo7	UTSW	7	110044736	critical splice donor site	probably null
R9089:Ipo7	UTSW	7	110044459	missense	possibly damaging	0.79
R9245:Ipo7	UTSW	7	110044619	missense	probably damaging	1.00
RF017:Ipo7	UTSW	7	110048794	missense	probably benign	0.00
X0062:Ipo7	UTSW	7	110052886	missense	probably damaging	1.00
X0066:Ipo7	UTSW	7	110052734	missense	probably damaging	0.97

Posted On

2014-02-04