Mutagenetix > Incidental Mutation

Incidental Mutation 'R4342:Fbxl2'

324182

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

041100-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113787625-113855871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113814374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 272 (H272Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114075 (fasta)

Gene Model

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

AlphaFold

Q8BH16

Predicted Effect

probably benign
Transcript: ENSMUST00000035090
AA Change: H272Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: H272Q

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 benign
Transcript: ENSMUST00000117537
AA Change: H272Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: H272Q

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

0.0705

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,421 (GRCm39)	C488R	probably benign	Het
Adamts19	A	T	18: 59,075,572 (GRCm39)	H489L	probably damaging	Het
Ahnak	T	C	19: 8,989,447 (GRCm39)	V3577A	possibly damaging	Het
Ajm1	A	G	2: 25,469,120 (GRCm39)	Y264H	possibly damaging	Het
Arhgap44	G	A	11: 64,902,887 (GRCm39)	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,707,502 (GRCm39)		noncoding transcript	Het
Ccdc174	T	A	6: 91,862,337 (GRCm39)	L86*	probably null	Het
Cd38	A	C	5: 44,026,431 (GRCm39)	I72L	probably benign	Het
Cers4	T	C	8: 4,571,223 (GRCm39)	L264P	probably damaging	Het
Cldn23	A	G	8: 36,292,652 (GRCm39)	S279P	probably benign	Het
Cth	T	A	3: 157,630,613 (GRCm39)	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,002,345 (GRCm39)	L330*	probably null	Het
Epas1	G	A	17: 87,131,228 (GRCm39)	C336Y	probably damaging	Het
Evi5l	A	C	8: 4,233,492 (GRCm39)		probably benign	Het
Fgd3	C	T	13: 49,427,185 (GRCm39)		probably null	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fscn1	T	C	5: 142,957,776 (GRCm39)	Y308H	probably damaging	Het
Garin3	A	G	11: 46,298,043 (GRCm39)	D449G	possibly damaging	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Gpatch2l	T	C	12: 86,307,453 (GRCm39)	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grin2a	A	G	16: 9,471,453 (GRCm39)	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,863,106 (GRCm39)	S49F	probably damaging	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,487,124 (GRCm39)	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,879,555 (GRCm39)	T614S	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Mast4	A	G	13: 102,910,756 (GRCm39)	V461A	probably damaging	Het
Mcts2	G	A	2: 152,529,584 (GRCm39)	V132M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Nbeal2	A	G	9: 110,460,861 (GRCm39)		probably benign	Het
Nek4	T	C	14: 30,675,863 (GRCm39)	V66A	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,402,437 (GRCm39)	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,662,640 (GRCm39)	K118Q	probably damaging	Het
Ntaq1	T	C	15: 58,016,110 (GRCm39)	S120P	probably benign	Het
Ntm	T	C	9: 29,020,727 (GRCm39)	E164G	probably damaging	Het
Or51a7	A	G	7: 102,615,231 (GRCm39)	N308S	probably benign	Het
Parp1	G	T	1: 180,414,894 (GRCm39)	A411S	probably benign	Het
Pds5b	A	G	5: 150,724,319 (GRCm39)	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,128,841 (GRCm39)	V3954A	probably benign	Het
Pkp4	A	T	2: 59,180,952 (GRCm39)	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,016,927 (GRCm39)		probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Ralgds	T	C	2: 28,442,107 (GRCm39)	L96P	probably damaging	Het
Rbm6	A	T	9: 107,724,446 (GRCm39)		probably benign	Het
Scp2d1	T	C	2: 144,666,087 (GRCm39)	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,088,281 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,270,949 (GRCm39)	C143Y	probably damaging	Het
Slc22a12	A	G	19: 6,591,129 (GRCm39)	I156T	probably benign	Het
Stambpl1	A	G	19: 34,211,446 (GRCm39)	Q169R	probably benign	Het
Tex2	T	C	11: 106,457,832 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,850,575 (GRCm39)	I878N	probably damaging	Het
Ttf1	C	T	2: 28,955,488 (GRCm39)	S284L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,287,582 (GRCm39)	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,210,808 (GRCm39)	Y85N	probably benign	Het
Zfp131	C	T	13: 120,237,554 (GRCm39)	R268H	probably 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
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
R6232:Fbxl2	UTSW	9	113,815,516 (GRCm39)	missense	probably damaging	0.98
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'- GGTAACTGAATGTGGCCCAC -3'
(R):5'- CTGTTTGCAAGACCCAGAAGG -3'

Sequencing Primer
(F):5'- CTCAGTAAATGCCAACGTGGTGTC -3'
(R):5'- TTTGCAAGACCCAGAAGGACATG -3'

Posted On

2015-06-24