Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00789:Ranbp17'

13742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp17

Ensembl Gene

ENSMUSG00000040594

Gene Name

RAN binding protein 17

Synonyms

4932704E15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00789

Quality Score

Status

Chromosome

Chromosomal Location

33161795-33463746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33193249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 935 (T935I)

Ref Sequence

ENSEMBL: ENSMUSP00000099879 (fasta)

Gene Model

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

AlphaFold

Q99NF8

Predicted Effect

probably benign
Transcript: ENSMUST00000102815
AA Change: T935I

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: T935I

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

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	A	T	5: 144,222,356 (GRCm39)	L133*	probably null	Het
Baiap2l1	A	T	5: 144,222,879 (GRCm39)		probably null	Het
Cobll1	A	T	2: 64,956,357 (GRCm39)	D300E	probably damaging	Het
Cog5	T	A	12: 31,810,951 (GRCm39)	L215Q	possibly damaging	Het
Cyp4f39	C	A	17: 32,689,886 (GRCm39)	H111N	probably damaging	Het
Dync1i2	G	A	2: 71,078,299 (GRCm39)		probably benign	Het
Gfm2	A	G	13: 97,309,566 (GRCm39)		probably benign	Het
Ms4a13	T	G	19: 11,162,478 (GRCm39)	S80R	probably damaging	Het
Nipbl	C	T	15: 8,326,353 (GRCm39)	V2419M	probably damaging	Het
Nup98	A	G	7: 101,803,178 (GRCm39)	V657A	probably benign	Het
Rab32	T	C	10: 10,426,556 (GRCm39)	N130S	probably benign	Het

Other mutations in Ranbp17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ranbp17	APN	11	33,443,402 (GRCm39)	missense	probably benign	0.13
IGL00582:Ranbp17	APN	11	33,454,683 (GRCm39)	missense	probably damaging	0.99
IGL00698:Ranbp17	APN	11	33,391,910 (GRCm39)	missense	probably benign	0.00
IGL01304:Ranbp17	APN	11	33,216,147 (GRCm39)	missense	possibly damaging	0.91
IGL01936:Ranbp17	APN	11	33,437,689 (GRCm39)	missense	probably benign	0.00
IGL01937:Ranbp17	APN	11	33,278,520 (GRCm39)	missense	possibly damaging	0.73
IGL01945:Ranbp17	APN	11	33,278,520 (GRCm39)	missense	possibly damaging	0.73
IGL01993:Ranbp17	APN	11	33,450,770 (GRCm39)	missense	possibly damaging	0.48
IGL02588:Ranbp17	APN	11	33,167,361 (GRCm39)	missense	probably benign
IGL02870:Ranbp17	APN	11	33,193,262 (GRCm39)	missense	probably damaging	1.00
IGL03149:Ranbp17	APN	11	33,193,183 (GRCm39)	missense	possibly damaging	0.76
PIT4445001:Ranbp17	UTSW	11	33,431,020 (GRCm39)	critical splice donor site	probably null
PIT4480001:Ranbp17	UTSW	11	33,247,340 (GRCm39)	critical splice donor site	probably null
R0079:Ranbp17	UTSW	11	33,450,682 (GRCm39)	missense	probably damaging	1.00
R0349:Ranbp17	UTSW	11	33,450,689 (GRCm39)	missense	probably benign
R0395:Ranbp17	UTSW	11	33,424,896 (GRCm39)	missense	probably benign
R1456:Ranbp17	UTSW	11	33,216,310 (GRCm39)	missense	probably damaging	1.00
R1539:Ranbp17	UTSW	11	33,247,394 (GRCm39)	missense	probably damaging	0.99
R1542:Ranbp17	UTSW	11	33,214,672 (GRCm39)	missense	probably benign
R1770:Ranbp17	UTSW	11	33,167,301 (GRCm39)	missense	probably benign	0.31
R2216:Ranbp17	UTSW	11	33,431,125 (GRCm39)	missense	probably damaging	1.00
R2656:Ranbp17	UTSW	11	33,193,122 (GRCm39)	missense	probably benign
R2883:Ranbp17	UTSW	11	33,454,708 (GRCm39)	missense	probably damaging	1.00
R3498:Ranbp17	UTSW	11	33,169,203 (GRCm39)	small deletion	probably benign
R3499:Ranbp17	UTSW	11	33,169,203 (GRCm39)	small deletion	probably benign
R3721:Ranbp17	UTSW	11	33,169,203 (GRCm39)	small deletion	probably benign
R3788:Ranbp17	UTSW	11	33,169,203 (GRCm39)	small deletion	probably benign
R3790:Ranbp17	UTSW	11	33,169,203 (GRCm39)	small deletion	probably benign
R3914:Ranbp17	UTSW	11	33,429,189 (GRCm39)	missense	probably benign	0.02
R3915:Ranbp17	UTSW	11	33,429,189 (GRCm39)	missense	probably benign	0.02
R3949:Ranbp17	UTSW	11	33,429,189 (GRCm39)	missense	probably benign	0.02
R4021:Ranbp17	UTSW	11	33,429,189 (GRCm39)	missense	probably benign	0.02
R4022:Ranbp17	UTSW	11	33,429,189 (GRCm39)	missense	probably benign	0.02
R4027:Ranbp17	UTSW	11	33,450,718 (GRCm39)	missense	possibly damaging	0.67
R4421:Ranbp17	UTSW	11	33,425,056 (GRCm39)	missense	probably benign	0.01
R4462:Ranbp17	UTSW	11	33,167,421 (GRCm39)	critical splice acceptor site	probably null
R4659:Ranbp17	UTSW	11	33,216,288 (GRCm39)	missense	probably damaging	1.00
R4791:Ranbp17	UTSW	11	33,437,746 (GRCm39)	missense	probably benign	0.11
R4837:Ranbp17	UTSW	11	33,278,451 (GRCm39)	missense	probably damaging	1.00
R4914:Ranbp17	UTSW	11	33,163,425 (GRCm39)	missense	probably benign
R4939:Ranbp17	UTSW	11	33,169,223 (GRCm39)	missense	probably benign	0.31
R5119:Ranbp17	UTSW	11	33,354,181 (GRCm39)	makesense	probably null
R5171:Ranbp17	UTSW	11	33,167,419 (GRCm39)	missense	probably benign
R5182:Ranbp17	UTSW	11	33,169,287 (GRCm39)	intron	probably benign
R5288:Ranbp17	UTSW	11	33,169,241 (GRCm39)	missense	possibly damaging	0.75
R5384:Ranbp17	UTSW	11	33,169,241 (GRCm39)	missense	possibly damaging	0.75
R5385:Ranbp17	UTSW	11	33,169,241 (GRCm39)	missense	possibly damaging	0.75
R5398:Ranbp17	UTSW	11	33,424,998 (GRCm39)	missense	probably damaging	1.00
R6658:Ranbp17	UTSW	11	33,169,214 (GRCm39)	nonsense	probably null
R6701:Ranbp17	UTSW	11	33,425,066 (GRCm39)	missense	probably damaging	1.00
R6796:Ranbp17	UTSW	11	33,167,398 (GRCm39)	missense	probably benign
R6869:Ranbp17	UTSW	11	33,463,074 (GRCm39)	start gained	probably benign
R7096:Ranbp17	UTSW	11	33,424,896 (GRCm39)	missense	probably benign
R7156:Ranbp17	UTSW	11	33,247,420 (GRCm39)	missense	probably damaging	1.00
R7451:Ranbp17	UTSW	11	33,234,114 (GRCm39)	splice site	probably null
R7958:Ranbp17	UTSW	11	33,437,702 (GRCm39)	missense	probably damaging	1.00
R9348:Ranbp17	UTSW	11	33,429,232 (GRCm39)	missense	probably benign	0.01
R9529:Ranbp17	UTSW	11	33,424,826 (GRCm39)	missense	unknown
RF016:Ranbp17	UTSW	11	33,279,511 (GRCm39)	missense	probably damaging	0.99
X0013:Ranbp17	UTSW	11	33,239,562 (GRCm39)	splice site	probably null
X0024:Ranbp17	UTSW	11	33,163,404 (GRCm39)	makesense	probably null
Z1176:Ranbp17	UTSW	11	33,431,108 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06