Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Fbxl2'

404794

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

042893-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113787625-113855871 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113815576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 229 (I229T)

Ref Sequence

ENSEMBL: ENSMUSP00000114075 (fasta)

Gene Model

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

AlphaFold

Q8BH16

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035090
AA Change: I229T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507
AA Change: I229T

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

possibly damaging
Transcript: ENSMUST00000117537
AA Change: I229T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507
AA Change: I229T

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

0.7653

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Chrna7	A	T	7: 62,755,805 (GRCm39)	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Cyp4f13	T	C	17: 33,144,795 (GRCm39)	D372G	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,210,204 (GRCm39)	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Glb1l2	C	T	9: 26,708,162 (GRCm39)		probably benign	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,870,110 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Terf1	A	T	1: 15,875,909 (GRCm39)	E3V	probably damaging	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	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
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'- GGTGATGTCATACCTCCTGG -3'
(R):5'- TGAATTCTGAGAGCGCCTCAC -3'

Sequencing Primer
(F):5'- TGGTTCTACCACCCTGAGG -3'
(R):5'- GATGGACTAGGACTCGAAATCCTC -3'

Posted On

2016-07-22