Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Ranbp17'

273671

Institutional Source

Beutler Lab

Gene Symbol

Ranbp17

Ensembl Gene

ENSMUSG00000040594

Gene Name

RAN binding protein 17

Synonyms

4932704E15Rik

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

33211795-33513746 bp(-) (GRCm38)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

GCCTGGATACTGACC to GCC at 33219203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099879 (fasta)

Gene Model

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

AlphaFold

Q99NF8

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	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
IGL02588:Ranbp17	APN	11	33217361	missense	probably benign
IGL02870:Ranbp17	APN	11	33243262	missense	probably damaging	1.00
IGL03149:Ranbp17	APN	11	33243183	missense	possibly damaging	0.76
PIT4445001:Ranbp17	UTSW	11	33481020	critical splice donor site	probably null
PIT4480001:Ranbp17	UTSW	11	33297340	critical splice donor site	probably null
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
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
R7096:Ranbp17	UTSW	11	33474896	missense	probably benign
R7156:Ranbp17	UTSW	11	33297420	missense	probably damaging	1.00
R7451:Ranbp17	UTSW	11	33284114	splice site	probably null
R7958:Ranbp17	UTSW	11	33487702	missense	probably damaging	1.00
R9348:Ranbp17	UTSW	11	33479232	missense	probably benign	0.01
R9529:Ranbp17	UTSW	11	33474826	missense	unknown
RF016:Ranbp17	UTSW	11	33329511	missense	probably damaging	0.99
X0013:Ranbp17	UTSW	11	33289562	splice site	probably null
X0024:Ranbp17	UTSW	11	33213404	makesense	probably null
Z1176:Ranbp17	UTSW	11	33481108	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAACTGCCTTAGAATGGCAAG -3'
(R):5'- TGCCATCAGAAAGGTGGCAG -3'

Sequencing Primer
(F):5'- TCTGGGATACTGCCGAGCAAG -3'
(R):5'- CATCAGAAAGGTGGCAGGATGG -3'

Posted On

2015-04-02