Mutagenetix > Incidental Mutation

Incidental Mutation 'R1791:Ipo7'

201729

Institutional Source

Beutler Lab

Gene Symbol

Ipo7

Ensembl Gene

ENSMUSG00000066232

Gene Name

importin 7

Synonyms

RanBP7, Imp7, A330055O14Rik

MMRRC Submission

039821-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109617522-109655816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109626339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 49 (D49G)

Ref Sequence

ENSEMBL: ENSMUSP00000146367 (fasta)

Gene Model

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

AlphaFold

Q9EPL8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082666

Predicted Effect

probably benign
Transcript: ENSMUST00000084731
AA Change: D49G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: D49G

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 damaging
Transcript: ENSMUST00000208951
AA Change: D49G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.5802

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

95% (104/110)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adrm1b	T	A	3: 92,335,538 (GRCm39)	D388V	probably damaging	Het
Akap13	T	G	7: 75,260,783 (GRCm39)	C333G	probably benign	Het
Akap6	T	C	12: 53,115,908 (GRCm39)	S1004P	probably damaging	Het
Akap7	T	C	10: 25,115,583 (GRCm39)	T181A	probably benign	Het
Ap3b1	A	G	13: 94,545,305 (GRCm39)	E186G	possibly damaging	Het
Arhgap17	T	C	7: 122,885,925 (GRCm39)	T736A	probably benign	Het
Bltp3a	T	A	17: 28,113,720 (GRCm39)	D1297E	probably damaging	Het
Bmp8a	G	T	4: 123,218,378 (GRCm39)	R214S	possibly damaging	Het
Cacna1f	T	C	X: 7,486,678 (GRCm39)	S890P	probably damaging	Het
Cd96	A	T	16: 45,938,362 (GRCm39)	Y34*	probably null	Het
Cdc42ep4	A	G	11: 113,620,163 (GRCm39)	L76P	probably damaging	Het
Cdh23	A	G	10: 60,227,505 (GRCm39)	V1195A	possibly damaging	Het
Cfap57	G	A	4: 118,428,921 (GRCm39)	T1015M	possibly damaging	Het
Chrm3	C	A	13: 9,927,452 (GRCm39)	G528V	probably damaging	Het
Cimap1c	A	T	9: 56,759,027 (GRCm39)	F43I	possibly damaging	Het
Clip4	T	C	17: 72,108,937 (GRCm39)		probably benign	Het
Col9a1	A	T	1: 24,224,386 (GRCm39)	R189S	unknown	Het
Cul4b	A	T	X: 37,636,728 (GRCm39)	I481N	probably damaging	Het
Cyp26b1	A	G	6: 84,561,441 (GRCm39)	S74P	probably benign	Het
Cyp3a57	A	G	5: 145,307,820 (GRCm39)	N192S	probably benign	Het
Dcbld1	A	G	10: 52,195,572 (GRCm39)	D260G	probably damaging	Het
Dhrs7	T	C	12: 72,699,939 (GRCm39)	N231S	probably benign	Het
Disp3	G	A	4: 148,325,975 (GRCm39)	P1261L	probably damaging	Het
Dnaaf4	T	C	9: 72,867,966 (GRCm39)	Y76H	possibly damaging	Het
Eml5	C	A	12: 98,853,315 (GRCm39)	V95F	probably benign	Het
Emsy	A	G	7: 98,297,087 (GRCm39)	I32T	probably damaging	Het
Esr1	A	G	10: 4,733,913 (GRCm39)	R238G	probably damaging	Het
Exosc1	T	C	19: 41,916,524 (GRCm39)	K84R	probably benign	Het
F830016B08Rik	T	A	18: 60,433,589 (GRCm39)	V224E	probably benign	Het
Fam228a	T	A	12: 4,782,748 (GRCm39)	N115I	probably damaging	Het
Farp1	T	C	14: 121,494,157 (GRCm39)	I546T	probably damaging	Het
Fbxo30	T	A	10: 11,165,531 (GRCm39)	C84*	probably null	Het
Fbxw17	A	G	13: 50,579,810 (GRCm39)		probably benign	Het
Foxo4	G	C	X: 100,302,069 (GRCm39)	R192P	probably benign	Het
Galnt7	G	T	8: 57,995,564 (GRCm39)	T377K	probably benign	Het
Garnl3	T	C	2: 32,924,139 (GRCm39)	I248V	probably benign	Het
Glod4	A	G	11: 76,128,534 (GRCm39)	Y104H	probably damaging	Het
Glrb	T	C	3: 80,767,482 (GRCm39)	Y246C	probably damaging	Het
Gm5292	A	G	5: 44,101,752 (GRCm39)		noncoding transcript	Het
Gm5424	C	A	10: 61,908,086 (GRCm39)		noncoding transcript	Het
Gm7276	C	T	18: 77,273,431 (GRCm39)		probably benign	Het
Golga5	A	G	12: 102,458,390 (GRCm39)	N611S	possibly damaging	Het
Gucy2c	A	C	6: 136,721,025 (GRCm39)	Y391D	probably damaging	Het
H6pd	A	G	4: 150,066,130 (GRCm39)	I760T	probably damaging	Het
Hapln2	T	A	3: 87,931,712 (GRCm39)	I5F	possibly damaging	Het
Hdac11	G	T	6: 91,145,806 (GRCm39)	V169L	probably benign	Het
Hectd2	T	C	19: 36,586,816 (GRCm39)	V557A	possibly damaging	Het
Huwe1	T	A	X: 150,647,749 (GRCm39)	N747K	probably benign	Het
Ints1	A	G	5: 139,760,277 (GRCm39)	S66P	probably benign	Het
Itgb4	G	A	11: 115,879,346 (GRCm39)	C575Y	probably damaging	Het
Klhl3	A	G	13: 58,181,044 (GRCm39)	V250A	possibly damaging	Het
Klk1b24	A	G	7: 43,839,852 (GRCm39)		probably null	Het
Map3k11	T	A	19: 5,745,600 (GRCm39)	Y333*	probably null	Het
Mbp	A	G	18: 82,572,474 (GRCm39)	T57A	probably benign	Het
Myh9	A	G	15: 77,657,464 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,961,472 (GRCm39)	R1040Q	probably damaging	Het
Ncdn	A	G	4: 126,645,732 (GRCm39)		probably null	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or10ab5	T	A	7: 108,245,571 (GRCm39)	T71S	probably benign	Het
Or11h4	AGGGATTGGG	AGGGATTGGGATTGGG	14: 50,974,144 (GRCm39)		probably benign	Het
Or4k15c	A	G	14: 50,321,499 (GRCm39)	F213S	probably benign	Het
Or51b6b	T	C	7: 103,310,005 (GRCm39)		probably null	Het
Or51f1	G	A	7: 102,505,569 (GRCm39)	Q307*	probably null	Het
Or8d2	T	A	9: 38,759,901 (GRCm39)	S164T	possibly damaging	Het
Pbx3	T	C	2: 34,114,464 (GRCm39)	T82A	possibly damaging	Het
Pi15	T	C	1: 17,672,945 (GRCm39)	F48S	probably benign	Het
Pkhd1	A	G	1: 20,655,376 (GRCm39)		probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Prrc2c	G	T	1: 162,532,551 (GRCm39)		probably benign	Het
Prune1	A	G	3: 95,175,553 (GRCm39)	Y41H	possibly damaging	Het
Rcsd1	T	C	1: 165,483,541 (GRCm39)	D150G	probably damaging	Het
Rgs12	A	T	5: 35,123,456 (GRCm39)	Q413L	possibly damaging	Het
Rhox2h	A	G	X: 36,850,848 (GRCm39)	Y185H	probably damaging	Het
Rnf17	T	A	14: 56,741,464 (GRCm39)	C1306*	probably null	Het
Ros1	T	A	10: 51,976,183 (GRCm39)	M1499L	probably benign	Het
Rubcnl	T	C	14: 75,284,989 (GRCm39)	S503P	probably damaging	Het
Sap18b	A	T	8: 96,552,342 (GRCm39)	R117S	probably benign	Het
Shank2	A	G	7: 143,964,336 (GRCm39)	E858G	probably damaging	Het
Shtn1	T	C	19: 59,020,632 (GRCm39)	R197G	probably damaging	Het
Slamf8	G	A	1: 172,412,087 (GRCm39)	R163*	probably null	Het
Slc6a3	T	C	13: 73,714,411 (GRCm39)	I392T	possibly damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Sp8	T	C	12: 118,812,751 (GRCm39)	V202A	possibly damaging	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Stpg2	A	T	3: 139,023,162 (GRCm39)	T393S	probably benign	Het
Tagap	T	C	17: 8,150,299 (GRCm39)	M228T	probably damaging	Het
Tagap	A	G	17: 8,152,377 (GRCm39)	T521A	probably benign	Het
Tas2r123	T	G	6: 132,824,528 (GRCm39)	S142A	probably damaging	Het
Tat	T	A	8: 110,718,261 (GRCm39)	S49T	probably benign	Het
Tfap4	G	T	16: 4,369,933 (GRCm39)	Q41K	possibly damaging	Het
Thbs2	T	C	17: 14,906,075 (GRCm39)	N275S	probably benign	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tnrc6a	T	C	7: 122,792,140 (GRCm39)	V1886A	possibly damaging	Het
Trim56	G	A	5: 137,143,252 (GRCm39)	A88V	probably damaging	Het
Trio	A	G	15: 27,841,842 (GRCm39)	Y1081H	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ube2o	G	A	11: 116,432,320 (GRCm39)	T882I	probably benign	Het
Upk3a	A	G	15: 84,904,815 (GRCm39)	T188A	possibly damaging	Het
Vmn1r79	A	C	7: 11,910,358 (GRCm39)	D80A	probably damaging	Het
Wls	C	A	3: 159,617,450 (GRCm39)	T375K	probably benign	Het
Wnt5a	T	C	14: 28,233,835 (GRCm39)	M1T	probably null	Het
Zcchc4	A	G	5: 52,953,932 (GRCm39)	E204G	probably damaging	Het
Zfp513	G	A	5: 31,357,678 (GRCm39)	P232S	possibly 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
R0355:Ipo7	UTSW	7	109,648,868 (GRCm39)	missense	probably benign	0.00
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
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'- GTAAAGATGTTAGCTACTGGACCC -3'
(R):5'- TTCATGTAAGCCCTACTACCAAATATC -3'

Sequencing Primer
(F):5'- CAGGTTTTATGAACAATATACCCCAG -3'
(R):5'- CCAAATATCAAGGTACCTGCTGTTGC -3'

Posted On

2014-06-23