Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Fbxl2'

504689

Institutional Source

Beutler Lab

Gene Symbol

Fbxl2

Ensembl Gene

ENSMUSG00000032507

Gene Name

F-box and leucine-rich repeat protein 2

Synonyms

Fbl3, 2810423A21Rik

MMRRC Submission

044360-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6232 (G1)

Quality Score

142.008

Status

Validated

Chromosome

Chromosomal Location

113787625-113855871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113815516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 249 (D249V)

Ref Sequence

ENSEMBL: ENSMUSP00000114075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035090] [ENSMUST00000117537] [ENSMUST00000143180]

AlphaFold

Q8BH16

Predicted Effect

probably damaging
Transcript: ENSMUST00000035090
AA Change: D249V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: D249V

Domain	Start	End	E-Value	Type
FBOX	15	55	1.18e-6	SMART
LRR	77	102	1.16e-1	SMART
LRR	103	128	5.21e-4	SMART
LRR	129	154	2.24e-3	SMART
LRR_CC	155	180	5.46e-7	SMART
LRR	181	206	7.05e-1	SMART
LRR	207	232	4.87e-4	SMART
LRR	233	258	1.5e-4	SMART
LRR	259	284	8.81e-2	SMART
LRR	285	310	2.05e-2	SMART
LRR_CC	311	336	6.37e-8	SMART
LRR	365	391	2.44e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117537
AA Change: D249V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: D249V

Domain	Start	End	E-Value	Type
FBOX	15	55	1.18e-6	SMART
LRR	77	102	1.16e-1	SMART
LRR	103	128	5.21e-4	SMART
LRR	129	154	2.24e-3	SMART
LRR_CC	155	180	5.46e-7	SMART
LRR	181	206	7.05e-1	SMART
LRR	207	232	4.87e-4	SMART
LRR	233	258	1.5e-4	SMART
LRR	259	284	8.81e-2	SMART
LRR	285	310	2.05e-2	SMART
LRR_CC	311	336	6.37e-8	SMART
LRR	365	391	2.44e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139757

Predicted Effect

probably benign
Transcript: ENSMUST00000143180

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

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 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgra2	A	T	8: 27,609,193 (GRCm39)	M805L	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Ldlrap1	C	T	4: 134,486,345 (GRCm39)	R38Q	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or2w3	T	A	11: 58,556,757 (GRCm39)	V124E	possibly damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pkp1	T	A	1: 135,814,599 (GRCm39)	I241F	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,823,691 (GRCm39)	S287G	probably benign	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Sec63	T	A	10: 42,704,861 (GRCm39)		probably null	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	possibly damaging	Het

Other mutations in Fbxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Fbxl2	APN	9	113,813,047 (GRCm39)	splice site	probably benign
IGL02165:Fbxl2	APN	9	113,847,099 (GRCm39)	missense	probably benign	0.06
IGL02535:Fbxl2	APN	9	113,808,575 (GRCm39)	missense	probably benign	0.25
R0145:Fbxl2	UTSW	9	113,814,393 (GRCm39)	missense	probably damaging	1.00
R1668:Fbxl2	UTSW	9	113,818,214 (GRCm39)	missense	probably benign	0.00
R1694:Fbxl2	UTSW	9	113,832,239 (GRCm39)	missense	probably damaging	0.99
R1964:Fbxl2	UTSW	9	113,818,237 (GRCm39)	missense	probably benign	0.00
R2993:Fbxl2	UTSW	9	113,818,484 (GRCm39)	missense	possibly damaging	0.48
R3894:Fbxl2	UTSW	9	113,832,261 (GRCm39)	missense	probably damaging	1.00
R4235:Fbxl2	UTSW	9	113,818,231 (GRCm39)	missense	probably benign	0.03
R4342:Fbxl2	UTSW	9	113,814,374 (GRCm39)	missense	probably benign
R5310:Fbxl2	UTSW	9	113,815,576 (GRCm39)	missense	possibly damaging	0.78
R5509:Fbxl2	UTSW	9	113,814,415 (GRCm39)	splice site	probably null
R5696:Fbxl2	UTSW	9	113,815,546 (GRCm39)	missense	probably damaging	1.00
R6371:Fbxl2	UTSW	9	113,818,451 (GRCm39)	missense	probably damaging	1.00
R6803:Fbxl2	UTSW	9	113,813,617 (GRCm39)	missense	probably damaging	1.00
R7530:Fbxl2	UTSW	9	113,818,241 (GRCm39)	missense	probably benign	0.01
Z1177:Fbxl2	UTSW	9	113,818,413 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTACATGAGTGCAGCTGTG -3'
(R):5'- AGTGCTTGTAGGCAGCAGAG -3'

Sequencing Primer
(F):5'- TGCTGCACACCCATCCG -3'
(R):5'- GTAGACCGCACTAGGCTCATTC -3'

Posted On

2018-02-28