Mutagenetix > Incidental Mutation

Incidental Mutation 'R5749:Fbxo17'

445916

Institutional Source

Beutler Lab

Gene Symbol

Fbxo17

Ensembl Gene

ENSMUSG00000030598

Gene Name

F-box protein 17

Synonyms

FBXO26, Fbg4, Fbx17

MMRRC Submission

043200-MU

Accession Numbers

Essential gene?

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

Stock #

R5749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28416229-28437569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28436897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 284 (R284H)

Ref Sequence

ENSEMBL: ENSMUSP00000130422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032818] [ENSMUST00000056078] [ENSMUST00000094632] [ENSMUST00000108278] [ENSMUST00000108279] [ENSMUST00000165004] [ENSMUST00000167118] [ENSMUST00000207877] [ENSMUST00000171183]

AlphaFold

Q9QZM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000032818
AA Change: R284H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: R284H

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 benign
Transcript: ENSMUST00000094632

SMART Domains

Protein: ENSMUSP00000092216
Gene: ENSMUSG00000070699

Domain	Start	End	E-Value	Type
Pfam:Seryl_tRNA_N	58	174	3.8e-8	PFAM
Pfam:tRNA-synt_2b	284	468	5.2e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108278
AA Change: R284H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: R284H

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: ENSMUST00000108279

SMART Domains

Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598

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: R284H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: R284H

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

noncoding transcript
Transcript: ENSMUST00000207897

Predicted Effect

probably benign
Transcript: ENSMUST00000207877

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

Meta Mutation Damage Score

0.1211

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	G	A	11: 54,214,881 (GRCm39)		probably null	Het
Ankrd12	T	C	17: 66,293,091 (GRCm39)	S781G	probably benign	Het
Bicc1	A	G	10: 70,782,799 (GRCm39)	S523P	probably benign	Het
Ccdc163	T	A	4: 116,571,309 (GRCm39)	C44*	probably null	Het
Ccdc83	T	C	7: 89,873,156 (GRCm39)	T400A	probably damaging	Het
Cobl	A	G	11: 12,216,965 (GRCm39)	S426P	possibly damaging	Het
Cyp2b19	T	C	7: 26,462,844 (GRCm39)	I242T	possibly damaging	Het
Efnb2	A	C	8: 8,689,347 (GRCm39)	C92G	probably damaging	Het
Fam90a1a	T	A	8: 22,453,057 (GRCm39)	S137R	possibly damaging	Het
Fem1b	A	G	9: 62,704,288 (GRCm39)	L324P	probably damaging	Het
Fsd1	T	A	17: 56,302,849 (GRCm39)		probably null	Het
Gtpbp4	A	G	13: 9,045,983 (GRCm39)		probably null	Het
Ifi209	A	C	1: 173,464,893 (GRCm39)	I8L	probably damaging	Het
Itga8	T	C	2: 12,266,889 (GRCm39)	E182G	probably damaging	Het
Itsn1	T	A	16: 91,703,743 (GRCm39)	L87H	probably damaging	Het
Klk1b16	T	C	7: 43,790,210 (GRCm39)	I160T	probably benign	Het
Lbp	T	A	2: 158,161,673 (GRCm39)	V52D	probably damaging	Het
Med23	T	C	10: 24,764,347 (GRCm39)	V318A	possibly damaging	Het
Myo16	C	T	8: 10,463,245 (GRCm39)	S604L	probably benign	Het
Or10ag52	C	T	2: 87,043,287 (GRCm39)	T17I	probably benign	Het
Or10g1	T	A	14: 52,647,961 (GRCm39)	M123L	probably damaging	Het
Or5b12	A	G	19: 12,897,589 (GRCm39)	V28A	probably benign	Het
Or6c38	A	T	10: 128,928,966 (GRCm39)	N292K	probably damaging	Het
Pcdh8	T	C	14: 80,007,525 (GRCm39)	D346G	probably damaging	Het
Ppara	A	T	15: 85,673,229 (GRCm39)	D140V	probably benign	Het
Prlr	T	A	15: 10,328,804 (GRCm39)	D426E	probably benign	Het
Prss36	T	A	7: 127,532,814 (GRCm39)	I192F	probably damaging	Het
Psg25	T	C	7: 18,258,776 (GRCm39)	E300G	probably damaging	Het
Pxylp1	A	G	9: 96,738,424 (GRCm39)	F26L	possibly damaging	Het
Rapgef4	A	T	2: 72,073,101 (GRCm39)	T796S	probably damaging	Het
Stard9	A	G	2: 120,534,267 (GRCm39)	H3508R	probably damaging	Het
Tep1	T	A	14: 51,081,529 (GRCm39)	D1282V	possibly damaging	Het
Tgfbr3l	A	G	8: 4,299,310 (GRCm39)	E59G	probably damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Tns3	A	T	11: 8,401,177 (GRCm39)	H1040Q	probably benign	Het
Usp10	G	A	8: 120,667,872 (GRCm39)	E58K	probably damaging	Het
Vmn2r23	A	G	6: 123,710,232 (GRCm39)	T512A	probably benign	Het
Vmn2r52	C	T	7: 9,892,959 (GRCm39)	D727N	probably damaging	Het
Vmn2r66	T	A	7: 84,655,979 (GRCm39)	K346*	probably null	Het
Vmn2r93	T	A	17: 18,518,546 (GRCm39)	F2I	probably benign	Het
Zfp697	T	C	3: 98,332,780 (GRCm39)	S69P	probably benign	Het
Zftraf1	A	C	15: 76,542,844 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGGGAGTCTGCTAAGATGG -3'
(R):5'- GTAGTCCCTGCTTGAGAGACAG -3'

Sequencing Primer
(F):5'- TCTGCTAAGATGGAAGAGGGGTC -3'
(R):5'- CCCTGCTTGAGAGACAGAAGCTATG -3'

Posted On

2016-11-21