Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Fbxo17'

22503

Institutional Source

Beutler Lab

Gene Symbol

Fbxo17

Ensembl Gene

ENSMUSG00000030598

Gene Name

F-box protein 17

Synonyms

FBXO26, Fbg4, Fbx17

MMRRC Submission

038429-MU

Accession Numbers

Essential gene?

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

Stock #

R0144 (G1)

Quality Score

201

Status

Validated (trace)

Chromosome

Chromosomal Location

28416229-28437569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 28434765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 183 (D183E)

Ref Sequence

ENSEMBL: ENSMUSP00000103914 (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: D183E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: D183E

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: D183E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: D183E

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: D183E

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

SMART Domains

Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598
AA Change: D183E

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: D183E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: D183E

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

Meta Mutation Damage Score

0.0759

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,652,739 (GRCm39)		probably null	Het
Acp6	T	A	3: 97,073,145 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,780,224 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,109,233 (GRCm39)	I674V	probably benign	Het
Armc2	A	T	10: 41,823,883 (GRCm39)		probably benign	Het
Atp8b1	G	C	18: 64,704,445 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,737,839 (GRCm39)	N1823K	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Brca1	A	T	11: 101,416,947 (GRCm39)	S396T	probably damaging	Het
Btnl6	G	T	17: 34,732,994 (GRCm39)	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797 (GRCm39)	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,656,417 (GRCm39)	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Ceacam15	G	T	7: 16,407,116 (GRCm39)	H134N	probably benign	Het
Cep170	T	C	1: 176,620,161 (GRCm39)	I46V	probably benign	Het
Cfap57	T	C	4: 118,441,902 (GRCm39)	D722G	probably damaging	Het
Col11a1	A	T	3: 113,907,243 (GRCm39)	D628V	unknown	Het
Csmd1	A	T	8: 16,441,838 (GRCm39)	V342E	probably benign	Het
Dennd1a	A	G	2: 38,016,652 (GRCm39)	V64A	probably damaging	Het
Dlec1	G	T	9: 118,971,934 (GRCm39)	G1345V	probably benign	Het
Dnah1	G	A	14: 30,989,831 (GRCm39)		probably benign	Het
Dock5	C	T	14: 68,023,735 (GRCm39)	G1142D	probably benign	Het
Etv2	C	A	7: 30,334,308 (GRCm39)	A142S	probably benign	Het
Fam110c	C	A	12: 31,124,500 (GRCm39)	T154K	unknown	Het
Fbxo30	T	A	10: 11,170,964 (GRCm39)	W681R	probably damaging	Het
Fig4	A	G	10: 41,134,045 (GRCm39)	Y413H	probably damaging	Het
Gab1	A	G	8: 81,511,830 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,510,411 (GRCm39)	M1T	probably null	Het
H2-M10.6	G	A	17: 37,123,133 (GRCm39)	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,889,751 (GRCm39)	D2432G	probably damaging	Het
Il13	T	C	11: 53,524,003 (GRCm39)	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,401,668 (GRCm39)	L479P	probably damaging	Het
Itpr2	T	A	6: 146,228,653 (GRCm39)	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,578,005 (GRCm39)	G427S	probably benign	Het
Kcnb1	T	G	2: 166,946,467 (GRCm39)	N794H	probably damaging	Het
Klhl8	A	T	5: 104,015,804 (GRCm39)	S361R	probably benign	Het
Krt87	T	C	15: 101,336,542 (GRCm39)	Y37C	probably benign	Het
Lbp	A	T	2: 158,161,630 (GRCm39)	S231C	probably damaging	Het
Lpin2	A	G	17: 71,532,071 (GRCm39)	E142G	probably damaging	Het
Lrch4	G	A	5: 137,636,805 (GRCm39)		probably null	Het
Lypd11	A	G	7: 24,423,015 (GRCm39)	V101A	possibly damaging	Het
Manea	A	G	4: 26,340,719 (GRCm39)	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,316,849 (GRCm39)	T618A	probably benign	Het
Me3	A	G	7: 89,389,080 (GRCm39)	D128G	probably damaging	Het
Mix23	A	T	16: 35,905,484 (GRCm39)	N92I	possibly damaging	Het
Mug2	A	G	6: 122,047,970 (GRCm39)		probably benign	Het
Myo9b	A	T	8: 71,798,687 (GRCm39)	Q901L	probably damaging	Het
Nalcn	T	C	14: 123,608,948 (GRCm39)	R640G	probably damaging	Het
Nalcn	C	T	14: 123,647,251 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,283,421 (GRCm39)	N422S	probably damaging	Het
Nf1	T	A	11: 79,437,953 (GRCm39)	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,315,162 (GRCm39)	A358T	probably damaging	Het
Or52s1	A	T	7: 102,861,747 (GRCm39)	I216F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p62	T	C	7: 107,771,178 (GRCm39)	I258V	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pld5	T	C	1: 175,798,107 (GRCm39)	N431D	probably benign	Het
Prss28	G	A	17: 25,528,424 (GRCm39)	V16M	probably damaging	Het
Psmd2	T	A	16: 20,480,975 (GRCm39)		probably null	Het
Ptpn21	A	T	12: 98,654,868 (GRCm39)	S700T	probably benign	Het
Rasa2	A	T	9: 96,474,072 (GRCm39)	V152D	probably damaging	Het
Reln	G	T	5: 22,153,447 (GRCm39)	R2286S	probably damaging	Het
Rflnb	G	T	11: 75,915,789 (GRCm39)	P102Q	probably damaging	Het
Rin2	G	A	2: 145,718,559 (GRCm39)	V680I	probably damaging	Het
Rnf213	A	T	11: 119,370,426 (GRCm39)	K4742*	probably null	Het
Rpp40	A	T	13: 36,085,352 (GRCm39)	S143T	probably benign	Het
Rps12	A	G	10: 23,662,689 (GRCm39)	I51T	probably benign	Het
Rsf1	T	A	7: 97,285,614 (GRCm39)	W109R	probably damaging	Het
Sipa1l2	C	T	8: 126,176,615 (GRCm39)		probably null	Het
Tspan5	G	T	3: 138,604,109 (GRCm39)	V165L	probably damaging	Het
Uts2r	T	A	11: 121,052,291 (GRCm39)	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231 (GRCm39)	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,440 (GRCm39)	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,665 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,655,671 (GRCm39)	K766R	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACGAGCATGAAGATCAGCCTCCTG -3'
(R):5'- AGCTCTGCTACTGTAAGTACCTCCC -3'

Sequencing Primer
(F):5'- CCATACACCTTCTTGTCCTGAAAAG -3'
(R):5'- TGTAAGTACCTCCCAAGAAAGG -3'

Posted On

2013-04-16