Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00492:Fbxo17'

10728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo17

Ensembl Gene

ENSMUSG00000030598

Gene Name

F-box protein 17

Synonyms

FBXO26, Fbg4, Fbx17

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL00492

Quality Score

Status

Chromosome

Chromosomal Location

28416229-28437569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28434766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 184 (S184R)

Ref Sequence

ENSEMBL: ENSMUSP00000130422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032818] [ENSMUST00000056078] [ENSMUST00000108278] [ENSMUST00000108279] [ENSMUST00000165004] [ENSMUST00000167118] [ENSMUST00000171183]

AlphaFold

Q9QZM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032818
AA Change: S184R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: S184R

Domain	Start	End	E-Value	Type
FBOX	21	62	7.7e-6	SMART
low complexity region	83	92	N/A	INTRINSIC
FBA	101	283	7.76e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056078

SMART Domains

Protein: ENSMUSP00000062066
Gene: ENSMUSG00000045948

Domain	Start	End	E-Value	Type
Pfam:Ribosom_S12_S23	31	139	2.4e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108278
AA Change: S184R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: S184R

Domain	Start	End	E-Value	Type
FBOX	21	62	7.7e-6	SMART
low complexity region	83	92	N/A	INTRINSIC
FBA	101	283	7.76e-96	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108279
AA Change: S184R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598
AA Change: S184R

Domain	Start	End	E-Value	Type
FBOX	21	62	7.7e-6	SMART
low complexity region	83	92	N/A	INTRINSIC
FBA	101	242	1.34e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165004

SMART Domains

Protein: ENSMUSP00000129492
Gene: ENSMUSG00000045948

Domain	Start	End	E-Value	Type
Pfam:Ribosom_S12_S23	23	125	3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165246

Predicted Effect

probably damaging
Transcript: ENSMUST00000167118
AA Change: S184R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: S184R

Domain	Start	End	E-Value	Type
FBOX	21	62	7.7e-6	SMART
low complexity region	83	92	N/A	INTRINSIC
FBA	101	283	7.76e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171183

SMART Domains

Protein: ENSMUSP00000132443
Gene: ENSMUSG00000045948

Domain	Start	End	E-Value	Type
Pfam:Ribosom_S12_S23	31	139	2.4e-36	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap29	G	T	3: 121,796,961 (GRCm39)	E108*	probably null	Het
Braf	A	T	6: 39,637,933 (GRCm39)		probably null	Het
Calr3	G	A	8: 73,185,240 (GRCm39)	Q112*	probably null	Het
Dis3	A	G	14: 99,320,110 (GRCm39)	I649T	probably damaging	Het
Dop1b	T	C	16: 93,577,670 (GRCm39)	V65A	probably benign	Het
Dpp4	A	G	2: 62,209,646 (GRCm39)	Y126H	probably damaging	Het
Dtwd2	A	T	18: 49,856,776 (GRCm39)	Y170*	probably null	Het
Efcab7	A	G	4: 99,719,700 (GRCm39)	T61A	probably benign	Het
Fbxl3	G	T	14: 103,332,730 (GRCm39)	L83M	probably damaging	Het
Fcf1	T	C	12: 85,029,106 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,153,723 (GRCm39)	Y223C	probably damaging	Het
Kcnn1	A	G	8: 71,300,706 (GRCm39)	F432S	probably benign	Het
Kmt2a	C	T	9: 44,719,231 (GRCm39)		probably benign	Het
Lce1j	T	C	3: 92,696,713 (GRCm39)	T22A	unknown	Het
Lrfn5	T	A	12: 61,890,912 (GRCm39)	S734T	probably benign	Het
Lyst	T	A	13: 13,852,760 (GRCm39)	S2253R	possibly damaging	Het
Msantd5f1	C	T	4: 73,605,570 (GRCm39)	T327I	probably damaging	Het
Myrfl	G	A	10: 116,632,011 (GRCm39)	L645F	possibly damaging	Het
Nudt9	A	G	5: 104,209,628 (GRCm39)		probably benign	Het
Ostn	T	A	16: 27,140,132 (GRCm39)	M15K	possibly damaging	Het
Psg20	T	C	7: 18,408,536 (GRCm39)	T395A	possibly damaging	Het
Rpf1	G	A	3: 146,218,002 (GRCm39)	H171Y	probably benign	Het
Shprh	A	G	10: 11,063,902 (GRCm39)	E1325G	probably damaging	Het
Slc22a8	G	T	19: 8,571,499 (GRCm39)	V77L	probably benign	Het
Tbck	A	C	3: 132,428,501 (GRCm39)	K285N	probably benign	Het
Vmn1r86	C	T	7: 12,836,468 (GRCm39)	C86Y	possibly damaging	Het
Zdhhc20	A	G	14: 58,111,381 (GRCm39)	I73T	probably damaging	Het
Zfp512b	T	C	2: 181,228,862 (GRCm39)	D701G	probably damaging	Het
Zfp735	T	A	11: 73,602,192 (GRCm39)	Y379N	possibly damaging	Het
Znfx1	G	T	2: 166,878,843 (GRCm39)	H980Q	probably damaging	Het

Other mutations in Fbxo17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03306:Fbxo17	APN	7	28,434,782 (GRCm39)	missense	probably damaging	1.00
R0141:Fbxo17	UTSW	7	28,432,916 (GRCm39)	missense	possibly damaging	0.59
R0144:Fbxo17	UTSW	7	28,434,765 (GRCm39)	missense	probably damaging	1.00
R0418:Fbxo17	UTSW	7	28,432,916 (GRCm39)	missense	possibly damaging	0.59
R1166:Fbxo17	UTSW	7	28,432,953 (GRCm39)	missense	probably damaging	1.00
R3691:Fbxo17	UTSW	7	28,436,887 (GRCm39)	missense	probably damaging	0.99
R4688:Fbxo17	UTSW	7	28,431,979 (GRCm39)	missense	probably benign
R4921:Fbxo17	UTSW	7	28,432,214 (GRCm39)	missense	probably benign	0.14
R5691:Fbxo17	UTSW	7	28,436,897 (GRCm39)	missense	probably damaging	1.00
R5712:Fbxo17	UTSW	7	28,436,897 (GRCm39)	missense	probably damaging	1.00
R5749:Fbxo17	UTSW	7	28,436,897 (GRCm39)	missense	probably damaging	1.00
R5750:Fbxo17	UTSW	7	28,436,897 (GRCm39)	missense	probably damaging	1.00
R8891:Fbxo17	UTSW	7	28,434,733 (GRCm39)	missense	possibly damaging	0.86
R9020:Fbxo17	UTSW	7	28,436,782 (GRCm39)	missense	possibly damaging	0.92
Z1176:Fbxo17	UTSW	7	28,432,202 (GRCm39)	missense	unknown
Z1186:Fbxo17	UTSW	7	28,432,169 (GRCm39)	small deletion	probably benign

Posted On

2012-12-06