Mutagenetix > Incidental Mutation

Incidental Mutation 'R4462:Ranbp17'

330193

Institutional Source

Beutler Lab

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 #

R4462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33161795-33463746 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 33167421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099879 (fasta)

Gene Model

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

AlphaFold

Q99NF8

Predicted Effect

probably null
Transcript: ENSMUST00000102815

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594

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

Predicted Effect

probably null
Transcript: ENSMUST00000102815

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594

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

Predicted Effect

probably null
Transcript: ENSMUST00000102815

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	T	6: 55,457,084 (GRCm39)	I272F	possibly damaging	Het
Adgrl3	C	T	5: 81,836,357 (GRCm39)	A705V	probably damaging	Het
Arhgef12	A	T	9: 42,893,278 (GRCm39)	V975E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Btnl6	A	G	17: 34,727,031 (GRCm39)	S500P	probably damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Cdon	T	C	9: 35,368,876 (GRCm39)	V34A	probably damaging	Het
Defa17	A	G	8: 22,146,553 (GRCm39)	R60G	probably benign	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fuca2	T	C	10: 13,378,979 (GRCm39)	V41A	probably damaging	Het
Ggt6	C	A	11: 72,328,654 (GRCm39)	H385N	possibly damaging	Het
Hgsnat	G	A	8: 26,444,664 (GRCm39)	T428I	probably damaging	Het
Nefh	A	G	11: 4,891,015 (GRCm39)	S535P	probably damaging	Het
Or2y6	T	A	11: 52,104,801 (GRCm39)	N5I	probably damaging	Het
Or8b1c	T	A	9: 38,384,360 (GRCm39)	F106I	probably benign	Het
Pkhd1l1	T	C	15: 44,445,200 (GRCm39)	F3691L	probably damaging	Het
Polr2a	T	C	11: 69,637,229 (GRCm39)	D282G	probably damaging	Het
Slc13a2	T	C	11: 78,295,213 (GRCm39)	T187A	probably benign	Het
Slco3a1	A	C	7: 74,204,311 (GRCm39)	S10A	probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Trim38	A	G	13: 23,975,435 (GRCm39)	Y458C	probably null	Het
Ubr4	A	G	4: 139,145,813 (GRCm39)	M1537V	possibly damaging	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
IGL00789:Ranbp17	APN	11	33,193,249 (GRCm39)	missense	probably benign	0.27
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTTTCCAACAGACCTGGAGTG -3'
(R):5'- ACAGTCACAGCACCGGATTC -3'

Sequencing Primer
(F):5'- TGGAGTGCCCCCAGAGG -3'
(R):5'- GTCACAGCACCGGATTCTAATGAG -3'

Posted On

2015-07-21