Mutagenetix > Incidental Mutation

Incidental Mutation 'R5712:Fbxo17'

450949

Institutional Source

Beutler Lab

Gene Symbol

Fbxo17

Ensembl Gene

ENSMUSG00000030598

Gene Name

F-box protein 17

Synonyms

FBXO26, Fbg4, Fbx17

MMRRC Submission

043334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5712 (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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,563 (GRCm39)	T133A	probably benign	Het
Adcy8	C	T	15: 64,626,715 (GRCm39)	E708K	probably damaging	Het
Alkbh1	A	G	12: 87,475,883 (GRCm39)	C300R	probably benign	Het
Arhgap11a	T	C	2: 113,675,646 (GRCm39)	N52D	probably benign	Het
Ash1l	T	A	3: 88,959,297 (GRCm39)	S2225T	probably damaging	Het
Aspn	A	T	13: 49,716,995 (GRCm39)	Y257F	probably damaging	Het
Atp2b4	A	C	1: 133,658,278 (GRCm39)	V544G	probably damaging	Het
Bclaf1	T	G	10: 20,209,277 (GRCm39)	Y498D	probably damaging	Het
Cacna1d	A	G	14: 29,796,954 (GRCm39)	I1520T	probably damaging	Het
Castor1	T	C	11: 4,168,378 (GRCm39)	L22P	probably damaging	Het
Cfap57	G	T	4: 118,471,992 (GRCm39)	P129Q	probably damaging	Het
Clcn3	A	G	8: 61,390,332 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,679 (GRCm39)	Y93*	probably null	Het
Erich6b	T	A	14: 75,896,340 (GRCm39)	D75E	possibly damaging	Het
Exoc3l4	T	A	12: 111,390,476 (GRCm39)	Y350*	probably null	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fga	C	T	3: 82,940,440 (GRCm39)	T698I	possibly damaging	Het
Fsip2	T	C	2: 82,839,192 (GRCm39)	S6987P	possibly damaging	Het
Gbp9	T	A	5: 105,242,421 (GRCm39)	N106I	possibly damaging	Het
Gls	T	A	1: 52,235,911 (GRCm39)	K401N	probably damaging	Het
Gpatch2l	A	G	12: 86,291,254 (GRCm39)	K146E	probably damaging	Het
Gpr3	A	G	4: 132,937,719 (GRCm39)	S318P	probably benign	Het
Kbtbd7	T	C	14: 79,666,205 (GRCm39)	V679A	possibly damaging	Het
Kcnu1	T	A	8: 26,409,678 (GRCm39)	L127H	probably damaging	Het
Lck	G	T	4: 129,450,103 (GRCm39)	H214Q	probably benign	Het
Lrch4	A	C	5: 137,636,188 (GRCm39)	S380R	possibly damaging	Het
Lrrk2	A	T	15: 91,586,425 (GRCm39)	K414*	probably null	Het
Maco1	A	T	4: 134,555,369 (GRCm39)	M368K	probably benign	Het
Med11	A	G	11: 70,344,058 (GRCm39)	E126G	probably damaging	Het
Mknk1	A	G	4: 115,712,203 (GRCm39)		probably null	Het
Mst1	T	C	9: 107,960,107 (GRCm39)	C355R	probably damaging	Het
Mtcl2	T	A	2: 156,872,841 (GRCm39)	E890V	probably damaging	Het
Myl10	T	C	5: 136,723,092 (GRCm39)	F14L	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nin	T	C	12: 70,089,543 (GRCm39)	T1291A	probably damaging	Het
Pcnt	T	C	10: 76,265,105 (GRCm39)	Q335R	probably damaging	Het
Phc2	A	G	4: 128,638,888 (GRCm39)	T83A	probably damaging	Het
Rdh19	T	A	10: 127,692,756 (GRCm39)	M141K	probably benign	Het
Rnf17	G	A	14: 56,708,856 (GRCm39)	V759I	probably benign	Het
Sirt7	A	T	11: 120,511,677 (GRCm39)	Y18*	probably null	Het
Slc27a5	T	C	7: 12,732,010 (GRCm39)		probably benign	Het
Synpo2	T	A	3: 122,914,859 (GRCm39)	I56F	probably damaging	Het
Tdrd6	C	A	17: 43,937,299 (GRCm39)	G1250C	probably damaging	Het
Tmem190	G	A	7: 4,787,288 (GRCm39)	G164D	probably damaging	Het
Tmigd1	T	C	11: 76,797,858 (GRCm39)	Y67H	probably damaging	Het
Trim3	T	A	7: 105,268,743 (GRCm39)	E70D	probably damaging	Het
Uap1	A	G	1: 169,994,414 (GRCm39)	F21L	possibly damaging	Het
Vmn1r176	A	T	7: 23,534,925 (GRCm39)	V76D	probably benign	Het
Vps13d	A	C	4: 144,813,743 (GRCm39)	S3245A	probably benign	Het
Wnt7a	T	C	6: 91,343,186 (GRCm39)	Y232C	probably damaging	Het
Zan	A	G	5: 137,398,360 (GRCm39)	V4224A	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCAGGGAGTCTGCTAAG -3'
(R):5'- AGTCCCTGCTTGAGAGACAG -3'

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

Posted On

2017-01-03