Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03306:Fbxo17'

416400

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: 0.067) question?

Stock #

IGL03306

Quality Score

Status

Chromosome

Chromosomal Location

28416229-28437569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28434782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 189 (I189N)

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: I189N

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

SMART Domains

Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: I189N

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: I189N

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

SMART Domains

Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: I189N

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: I189N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598
AA Change: I189N

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: I189N

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

SMART Domains

Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: I189N

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	T	A	7: 76,239,252 (GRCm39)	F584Y	probably damaging	Het
Amer2	C	A	14: 60,616,001 (GRCm39)	D65E	probably damaging	Het
Arhgap28	A	T	17: 68,159,930 (GRCm39)	L623Q	probably damaging	Het
Cep152	T	C	2: 125,447,328 (GRCm39)	T407A	possibly damaging	Het
Cmpk2	A	G	12: 26,521,442 (GRCm39)	D238G	possibly damaging	Het
Fam169a	C	A	13: 97,243,497 (GRCm39)	Q176K	possibly damaging	Het
Gm5581	T	A	6: 131,145,044 (GRCm39)		noncoding transcript	Het
Gpcpd1	C	T	2: 132,375,993 (GRCm39)		probably null	Het
Lhx2	A	G	2: 38,244,628 (GRCm39)	Y123C	probably damaging	Het
Llgl1	C	A	11: 60,602,180 (GRCm39)	T741N	possibly damaging	Het
Macc1	A	G	12: 119,410,603 (GRCm39)	Q457R	probably benign	Het
Mthfd2l	A	G	5: 91,168,067 (GRCm39)	T321A	probably damaging	Het
Myo6	T	C	9: 80,153,837 (GRCm39)	F271S	probably damaging	Het
Ncoa6	A	G	2: 155,247,427 (GRCm39)	V1959A	probably benign	Het
Npsr1	A	G	9: 24,224,535 (GRCm39)	D304G	probably benign	Het
Nup205	T	C	6: 35,185,104 (GRCm39)	V841A	probably damaging	Het
Or10c1	A	G	17: 37,522,568 (GRCm39)	Y59H	probably damaging	Het
Or1j20	A	T	2: 36,760,537 (GRCm39)		probably benign	Het
Osbpl9	A	G	4: 109,029,529 (GRCm39)		probably benign	Het
Pdgfra	A	G	5: 75,353,194 (GRCm39)	N995D	possibly damaging	Het
Ptgs1	A	T	2: 36,127,717 (GRCm39)	H92L	probably damaging	Het
Rasd1	T	A	11: 59,855,181 (GRCm39)	I100F	possibly damaging	Het
Rbm26	T	C	14: 105,388,758 (GRCm39)	T378A	probably damaging	Het
Slc12a3	T	C	8: 95,078,386 (GRCm39)	S805P	possibly damaging	Het
Smarcal1	G	A	1: 72,665,625 (GRCm39)	V708I	probably benign	Het
Strn	A	G	17: 78,974,652 (GRCm39)	S408P	probably damaging	Het
Suclg1	A	G	6: 73,247,975 (GRCm39)	N232S	probably benign	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Ube3a	T	A	7: 58,935,895 (GRCm39)	L614Q	probably damaging	Het
Wrn	A	G	8: 33,826,149 (GRCm39)	L171P	probably damaging	Het
Zfp335	T	C	2: 164,737,904 (GRCm39)		probably benign	Het

Other mutations in Fbxo17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Fbxo17	APN	7	28,434,766 (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

2016-08-02