Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Fbxl3'

532803

Institutional Source

Beutler Lab

Gene Symbol

Fbxl3

Ensembl Gene

ENSMUSG00000022124

Gene Name

F-box and leucine-rich repeat protein 3

Synonyms

Fbxl3a, Play68, Ovtm, Fbl3a

MMRRC Submission

044861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R6744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103317675-103337002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103320730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 239 (V239D)

Ref Sequence

ENSEMBL: ENSMUSP00000115843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022720] [ENSMUST00000132004] [ENSMUST00000145693]

AlphaFold

Q8C4V4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022720
AA Change: V287D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022720
Gene: ENSMUSG00000022124
AA Change: V287D

Domain	Start	End	E-Value	Type
FBOX	39	79	5.92e-7	SMART
low complexity region	235	247	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132004
AA Change: V239D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115843
Gene: ENSMUSG00000022124
AA Change: V239D

Domain	Start	End	E-Value	Type
FBOX	39	79	2.46e-4	SMART
low complexity region	187	199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145693
AA Change: V287D

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116044
Gene: ENSMUSG00000022124
AA Change: V287D

Domain	Start	End	E-Value	Type
FBOX	39	79	5.92e-7	SMART
low complexity region	235	247	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

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 an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of 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 Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both heterozygous and homozygous mutant mice display a longer free running period than that of wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,841,466 (GRCm39)	L251H	probably damaging	Het
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdc73	G	A	1: 143,577,887 (GRCm39)		probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Ctns	C	T	11: 73,076,111 (GRCm39)	G308E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Dock6	T	C	9: 21,742,770 (GRCm39)	H775R	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Havcr2	T	G	11: 46,345,887 (GRCm39)		probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Sult2a6	C	T	7: 13,956,470 (GRCm39)	E264K	probably damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het

Other mutations in Fbxl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Fbxl3	APN	14	103,332,730 (GRCm39)	missense	probably damaging	1.00
IGL01981:Fbxl3	APN	14	103,332,900 (GRCm39)	missense	possibly damaging	0.79
IGL03208:Fbxl3	APN	14	103,320,376 (GRCm39)	nonsense	probably null
delargo	UTSW	14	103,326,854 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Fbxl3	UTSW	14	103,332,900 (GRCm39)	missense	possibly damaging	0.79
R0282:Fbxl3	UTSW	14	103,332,661 (GRCm39)	missense	probably damaging	1.00
R0462:Fbxl3	UTSW	14	103,320,322 (GRCm39)	missense	probably damaging	1.00
R0710:Fbxl3	UTSW	14	103,326,751 (GRCm39)	missense	probably damaging	1.00
R1075:Fbxl3	UTSW	14	103,332,839 (GRCm39)	missense	probably benign	0.00
R2263:Fbxl3	UTSW	14	103,320,648 (GRCm39)	nonsense	probably null
R4239:Fbxl3	UTSW	14	103,326,854 (GRCm39)	missense	probably damaging	1.00
R4362:Fbxl3	UTSW	14	103,329,749 (GRCm39)	missense	probably damaging	1.00
R4497:Fbxl3	UTSW	14	103,320,313 (GRCm39)	missense	probably damaging	1.00
R4585:Fbxl3	UTSW	14	103,320,526 (GRCm39)	missense	probably damaging	0.99
R4586:Fbxl3	UTSW	14	103,320,526 (GRCm39)	missense	probably damaging	0.99
R5347:Fbxl3	UTSW	14	103,320,730 (GRCm39)	missense	probably damaging	0.97
R5349:Fbxl3	UTSW	14	103,333,012 (GRCm39)	intron	probably benign
R5885:Fbxl3	UTSW	14	103,320,667 (GRCm39)	missense	probably benign	0.06
R8314:Fbxl3	UTSW	14	103,326,876 (GRCm39)	missense	probably benign	0.04
R9015:Fbxl3	UTSW	14	103,329,790 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TTTGCAACGTTCCGCAATG -3'
(R):5'- TACGAGAACTGGCCCTGAAC -3'

Sequencing Primer
(F):5'- TCTTCATCAAGAGGCCGC -3'
(R):5'- GGCCCTGAACTACCATTTGCTAAG -3'

Posted On

2018-08-29