Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Ranbp17'

171580

Institutional Source

Beutler Lab

Gene Symbol

Ranbp17

Ensembl Gene

ENSMUSG00000040594

Gene Name

RAN binding protein 17

Synonyms

4932704E15Rik

MMRRC Submission

039578-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33161795-33463746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33247394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 246 (I246V)

Ref Sequence

ENSEMBL: ENSMUSP00000147123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102815] [ENSMUST00000129179] [ENSMUST00000207401]

AlphaFold

Q99NF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102815
AA Change: I727V

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: I727V

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 benign
Transcript: ENSMUST00000129179

SMART Domains

Protein: ENSMUSP00000137898
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 damaging
Transcript: ENSMUST00000207401
AA Change: I246V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Akna	T	A	4: 63,297,547 (GRCm39)	T836S	probably benign	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Anapc2	C	A	2: 25,163,075 (GRCm39)	T104K	probably benign	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dmac2l	G	A	12: 69,787,845 (GRCm39)	D94N	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,747,869 (GRCm39)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Ninl	A	G	2: 150,817,867 (GRCm39)	V99A	probably damaging	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Pkn1	C	A	8: 84,396,966 (GRCm39)	R890L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CAAGAAAGTGACCTCTGTGAGCCG -3'
(R):5'- AGTGGAGTTGCTCAGCAGATTGATG -3'

Sequencing Primer
(F):5'- AAATGCTGCGCTCAGTTATCTG -3'
(R):5'- TGATGGTCTGTTTATTAAAGAGCC -3'

Posted On

2014-04-13