Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Fbxl2'

22576

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

038430-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0145 (G1) of strain 722

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

113787625-113855871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113814393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 266 (E266G)

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: E266G

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

SMART Domains

Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: E266G

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: E266G

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

SMART Domains

Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: E266G

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

0.3115

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Actr6	A	T	10: 89,564,040 (GRCm39)	Y77*	probably null	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	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
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
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'- TGCAAAGGTCATCGTGGTCATCTC -3'
(R):5'- TGGGTTCTAAAACAACAGCGTGGG -3'

Sequencing Primer
(F):5'- GGTCATCTCCTCTGAAGCTAGG -3'
(R):5'- CACTCTGGTGAGACGTTAGGAC -3'

Posted On

2013-04-16