Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00582:Ranbp17'

13744

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 #

IGL00582

Quality Score

Status

Chromosome

Chromosomal Location

33161795-33463746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33454683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 55 (T55I)

Ref Sequence

ENSEMBL: ENSMUSP00000099879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037522] [ENSMUST00000102815] [ENSMUST00000129179] [ENSMUST00000147751]

AlphaFold

Q99NF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037522
AA Change: T55I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: T55I

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: ENSMUST00000102815
AA Change: T55I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: T55I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129179
AA Change: T55I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: T55I

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: ENSMUST00000147751
AA Change: T50I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118519
Gene: ENSMUSG00000040594
AA Change: T50I

Domain	Start	End	E-Value	Type
IBN_N	25	90	3.24e-5	SMART

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	C	A	9: 70,674,177 (GRCm39)	T513K	possibly damaging	Het
Capn1	C	A	19: 6,057,299 (GRCm39)	G383V	probably damaging	Het
Csf1	A	G	3: 107,664,043 (GRCm39)	S42P	probably benign	Het
Hipk2	A	G	6: 38,796,257 (GRCm39)		probably benign	Het
Knl1	A	T	2: 118,932,980 (GRCm39)	E2046D	probably benign	Het
Lamc3	T	C	2: 31,790,593 (GRCm39)	V271A	probably damaging	Het
Pik3c2a	G	T	7: 115,975,518 (GRCm39)	T683K	possibly damaging	Het
Sema3d	C	T	5: 12,635,162 (GRCm39)	R743C	probably damaging	Het
Setbp1	G	A	18: 78,798,894 (GRCm39)	Q1429*	probably null	Het
Sirt7	A	G	11: 120,509,735 (GRCm39)	I383T	probably benign	Het
Sis	T	C	3: 72,853,969 (GRCm39)	I503V	probably benign	Het
Spmap2l	A	T	5: 77,208,678 (GRCm39)	Y402F	probably damaging	Het
Usp17le	T	C	7: 104,417,994 (GRCm39)	T383A	probably benign	Het
Zfp248	A	T	6: 118,406,693 (GRCm39)	Y299N	probably damaging	Het
Zfp420	T	C	7: 29,574,518 (GRCm39)	I246T	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
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
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