Mutagenetix > Incidental Mutation

Incidental Mutation 'R3894:Fbxl2'

310455

Institutional Source

Beutler Lab

Gene Symbol

Fbxl2

Ensembl Gene

ENSMUSG00000032507

Gene Name

F-box and leucine-rich repeat protein 2

Synonyms

Fbl3, 2810423A21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113787625-113855871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113832261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 51 (N51S)

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: N51S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: N51S

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: N51S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: N51S

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: ENSMUST00000141832

Predicted Effect

probably benign
Transcript: ENSMUST00000143180

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,503,363 (GRCm39)	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,673,762 (GRCm39)	Y457*	probably null	Het
Alpk3	C	T	7: 80,728,138 (GRCm39)	P423S	possibly damaging	Het
Aox1	A	T	1: 58,373,837 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,913,966 (GRCm39)	T1316A	probably benign	Het
Cul3	C	A	1: 80,261,407 (GRCm39)	V273F	probably damaging	Het
Dnah1	G	T	14: 31,028,985 (GRCm39)	R582S	probably benign	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gdf7	A	G	12: 8,348,845 (GRCm39)	S151P	unknown	Het
Gm10277	T	C	11: 77,676,827 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,898,690 (GRCm39)	E688G	possibly damaging	Het
Htr1d	A	G	4: 136,170,548 (GRCm39)	E259G	probably benign	Het
Ifi204	T	C	1: 173,576,774 (GRCm39)	H609R	possibly damaging	Het
Ift80	T	C	3: 68,825,332 (GRCm39)	D541G	probably damaging	Het
Il18r1	A	T	1: 40,514,034 (GRCm39)	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,304,294 (GRCm39)	G158S	probably damaging	Het
Mesd	T	A	7: 83,546,993 (GRCm39)	L152H	probably damaging	Het
Mmut	G	A	17: 41,266,030 (GRCm39)	C531Y	probably damaging	Het
Morf4l1	A	T	9: 89,976,501 (GRCm39)	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	A	G	11: 60,395,145 (GRCm39)	T2480A	probably benign	Het
Or2a52	A	T	6: 43,144,192 (GRCm39)	I67F	probably benign	Het
Or2y15	G	A	11: 49,350,766 (GRCm39)	G87R	possibly damaging	Het
Or4f47	T	C	2: 111,972,359 (GRCm39)	I23T	probably benign	Het
Or4g17	C	A	2: 111,209,982 (GRCm39)	F212L	probably benign	Het
Or5k16	A	G	16: 58,736,702 (GRCm39)	F101L	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcbp4	A	T	9: 106,338,570 (GRCm39)	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Rad50	T	A	11: 53,569,697 (GRCm39)	I905L	probably benign	Het
Rp1l1	T	C	14: 64,266,756 (GRCm39)	S781P	probably benign	Het
Rps3	C	T	7: 99,129,103 (GRCm39)	R173H	probably benign	Het
Rtn3	T	A	19: 7,412,450 (GRCm39)	T86S	probably damaging	Het
Sdha	A	T	13: 74,482,510 (GRCm39)	S268T	probably benign	Het
Sgo2b	A	T	8: 64,381,767 (GRCm39)	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,245,300 (GRCm39)	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,514,719 (GRCm39)	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,877,368 (GRCm39)	V165A	probably benign	Het
Slco3a1	A	G	7: 73,934,361 (GRCm39)	W604R	probably damaging	Het
Tet2	A	G	3: 133,175,238 (GRCm39)	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 123,158,731 (GRCm39)		probably null	Het
Tsga13	A	G	6: 30,889,198 (GRCm39)	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,477,449 (GRCm39)	T317A	probably benign	Het
Zcchc4	A	T	5: 52,941,442 (GRCm39)	D79V	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
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
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

Posted On

2015-04-17