Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02588:Ranbp17'

299632

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp17

Ensembl Gene

ENSMUSG00000040594

Gene Name

RAN binding protein 17

Synonyms

4932704E15Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

33211795-33513746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33217361 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1034 (V1034A)

Ref Sequence

ENSEMBL: ENSMUSP00000099879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102815]

Predicted Effect

probably benign
Transcript: ENSMUST00000102815
AA Change: V1034A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: V1034A

Domain	Start	End	E-Value	Type
IBN_N	30	95	3.24e-5	SMART
low complexity region	270	283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131851

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,886,499	W258*	probably null	Het
Ankmy2	T	C	12: 36,176,686		probably benign	Het
Arhgap26	G	T	18: 38,601,617		probably benign	Het
Aspscr1	A	G	11: 120,677,531	D60G	possibly damaging	Het
Cdh15	C	A	8: 122,856,552	Y31*	probably null	Het
Cnih3	A	G	1: 181,409,704	R76G	probably benign	Het
Cplx1	C	A	5: 108,525,423	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,268,871	I597F	probably damaging	Het
Dnah17	G	T	11: 118,025,653	F4231L	possibly damaging	Het
Dst	T	G	1: 34,117,484	L173R	probably damaging	Het
Fam84b	T	C	15: 60,823,150	D249G	probably damaging	Het
Fezf2	A	T	14: 12,343,687	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,383,410	L247Q	probably damaging	Het
Gm10912	C	T	2: 104,066,852		probably benign	Het
Gpcpd1	A	T	2: 132,534,753	L541H	probably damaging	Het
Gpld1	C	T	13: 24,943,699	T28I	probably damaging	Het
Lmf2	A	T	15: 89,355,406		probably null	Het
Mex3c	A	G	18: 73,590,045	N403S	probably damaging	Het
Nlrp1b	A	T	11: 71,182,279	L246*	probably null	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Nlrp4c	A	T	7: 6,084,648	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843		noncoding transcript	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Nuggc	T	A	14: 65,617,777		probably benign	Het
Olfr1228	T	C	2: 89,249,698		probably benign	Het
Olfr646	C	T	7: 104,107,053	T258I	possibly damaging	Het
Papolg	T	A	11: 23,890,252	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pdp2	A	G	8: 104,594,904	K462E	possibly damaging	Het
Plod1	A	T	4: 147,913,290	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,198,853	G25*	probably null	Het
Ptch1	T	C	13: 63,511,918	D1307G	probably benign	Het
Rbl2	T	A	8: 91,087,084	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,872,892	T11A	probably benign	Het
Rfc3	A	T	5: 151,642,916	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,416,536	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,428,665	K157E	probably benign	Het
Slc22a17	A	G	14: 54,907,994	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,697,977		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
St14	C	A	9: 31,090,033		probably benign	Het
Sympk	G	A	7: 19,042,625	V481M	probably benign	Het
Timeless	T	A	10: 128,243,334	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Ugt3a2	A	T	15: 9,361,456	H106L	probably benign	Het
Zbtb45	A	T	7: 13,006,277	C470*	probably null	Het

Other mutations in Ranbp17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ranbp17	APN	11	33493402	missense	probably benign	0.13
IGL00582:Ranbp17	APN	11	33504683	missense	probably damaging	0.99
IGL00698:Ranbp17	APN	11	33441910	missense	probably benign	0.00
IGL00789:Ranbp17	APN	11	33243249	missense	probably benign	0.27
IGL01304:Ranbp17	APN	11	33266147	missense	possibly damaging	0.91
IGL01936:Ranbp17	APN	11	33487689	missense	probably benign	0.00
IGL01937:Ranbp17	APN	11	33328520	missense	possibly damaging	0.73
IGL01945:Ranbp17	APN	11	33328520	missense	possibly damaging	0.73
IGL01993:Ranbp17	APN	11	33500770	missense	possibly damaging	0.48
IGL02870:Ranbp17	APN	11	33243262	missense	probably damaging	1.00
IGL03149:Ranbp17	APN	11	33243183	missense	possibly damaging	0.76
R0079:Ranbp17	UTSW	11	33500682	missense	probably damaging	1.00
R0349:Ranbp17	UTSW	11	33500689	missense	probably benign
R0395:Ranbp17	UTSW	11	33474896	missense	probably benign
R1456:Ranbp17	UTSW	11	33266310	missense	probably damaging	1.00
R1539:Ranbp17	UTSW	11	33297394	missense	probably damaging	0.99
R1542:Ranbp17	UTSW	11	33264672	missense	probably benign
R1770:Ranbp17	UTSW	11	33217301	missense	probably benign	0.31
R2216:Ranbp17	UTSW	11	33481125	missense	probably damaging	1.00
R2656:Ranbp17	UTSW	11	33243122	missense	probably benign
R2883:Ranbp17	UTSW	11	33504708	missense	probably damaging	1.00
R3498:Ranbp17	UTSW	11	33219203	small deletion	probably benign
R3499:Ranbp17	UTSW	11	33219203	small deletion	probably benign
R3721:Ranbp17	UTSW	11	33219203	small deletion	probably benign
R3788:Ranbp17	UTSW	11	33219203	small deletion	probably benign
R3790:Ranbp17	UTSW	11	33219203	small deletion	probably benign
R3914:Ranbp17	UTSW	11	33479189	missense	probably benign	0.02
R3915:Ranbp17	UTSW	11	33479189	missense	probably benign	0.02
R3949:Ranbp17	UTSW	11	33479189	missense	probably benign	0.02
R4021:Ranbp17	UTSW	11	33479189	missense	probably benign	0.02
R4022:Ranbp17	UTSW	11	33479189	missense	probably benign	0.02
R4027:Ranbp17	UTSW	11	33500718	missense	possibly damaging	0.67
R4421:Ranbp17	UTSW	11	33475056	missense	probably benign	0.01
R4462:Ranbp17	UTSW	11	33217421	critical splice acceptor site	probably null
R4659:Ranbp17	UTSW	11	33266288	missense	probably damaging	1.00
R4791:Ranbp17	UTSW	11	33487746	missense	probably benign	0.11
R4837:Ranbp17	UTSW	11	33328451	missense	probably damaging	1.00
R4914:Ranbp17	UTSW	11	33213425	missense	probably benign
R4939:Ranbp17	UTSW	11	33219223	missense	probably benign	0.31
R5119:Ranbp17	UTSW	11	33404181	makesense	probably null
R5171:Ranbp17	UTSW	11	33217419	missense	probably benign
R5182:Ranbp17	UTSW	11	33219287	intron	probably benign
R5288:Ranbp17	UTSW	11	33219241	missense	possibly damaging	0.75
R5384:Ranbp17	UTSW	11	33219241	missense	possibly damaging	0.75
R5385:Ranbp17	UTSW	11	33219241	missense	possibly damaging	0.75
R5398:Ranbp17	UTSW	11	33474998	missense	probably damaging	1.00
R6658:Ranbp17	UTSW	11	33219214	nonsense	probably null
R6701:Ranbp17	UTSW	11	33475066	missense	probably damaging	1.00
R6796:Ranbp17	UTSW	11	33217398	missense	probably benign
R6869:Ranbp17	UTSW	11	33513074	start gained	probably benign
X0013:Ranbp17	UTSW	11	33289562	unclassified	probably null
X0024:Ranbp17	UTSW	11	33213404	makesense	probably null

Posted On

2015-04-16