Mutagenetix > Incidental Mutations

Incidental Mutation 'R5802:Fbxw11'

448796

Institutional Source

Beutler Lab

Gene Symbol

Fbxw11

Ensembl Gene

ENSMUSG00000020271

Gene Name

F-box and WD-40 domain protein 11

Synonyms

HOS, 2310065A07Rik, Fbxw1b, BTRC2, BTRCP2

MMRRC Submission

043391-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.972) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32642724-32746816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32711790 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 56 (S56T)

Ref Sequence

ENSEMBL: ENSMUSP00000090893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076383] [ENSMUST00000093205] [ENSMUST00000109366]

Predicted Effect

probably benign
Transcript: ENSMUST00000076383
AA Change: S77T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: S77T

Domain	Start	End	E-Value	Type
Beta-TrCP_D	98	137	5.48e-26	SMART
FBOX	149	188	5.08e-6	SMART
WD40	250	287	6.89e-3	SMART
WD40	290	327	3.78e-9	SMART
WD40	330	367	7.73e-6	SMART
WD40	373	410	9.67e-7	SMART
WD40	413	450	3.93e-7	SMART
WD40	453	490	8.42e-7	SMART
WD40	502	539	2.48e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093205
AA Change: S56T

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: S56T

Domain	Start	End	E-Value	Type
Beta-TrCP_D	77	116	5.48e-26	SMART
FBOX	128	167	5.08e-6	SMART
WD40	229	266	6.89e-3	SMART
WD40	269	306	3.78e-9	SMART
WD40	309	346	7.73e-6	SMART
WD40	352	389	9.67e-7	SMART
WD40	392	429	3.93e-7	SMART
WD40	432	469	8.42e-7	SMART
WD40	481	518	2.48e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109366
AA Change: S43T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: S43T

Domain	Start	End	E-Value	Type
Beta-TrCP_D	64	103	5.48e-26	SMART
FBOX	115	154	5.08e-6	SMART
WD40	216	253	6.89e-3	SMART
WD40	256	293	3.78e-9	SMART
WD40	296	333	7.73e-6	SMART
WD40	339	376	9.67e-7	SMART
WD40	379	416	3.93e-7	SMART
WD40	419	456	8.42e-7	SMART
WD40	468	505	2.48e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143290

Meta Mutation Damage Score

0.0755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

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 Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964	D383V	probably damaging	Het
Abca4	A	T	3: 122,054,232	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676		probably null	Het
Atp2a3	T	C	11: 72,972,882	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420	I155N	probably damaging	Het
Cep70	A	G	9: 99,296,405	N519D	probably damaging	Het
Clgn	T	C	8: 83,425,614	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091		probably null	Het
Dnah17	C	T	11: 118,036,446	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,479,036	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582	F324S	probably benign	Het
Gm13178	T	A	4: 144,703,636	D261V	probably damaging	Het
Gm14409	T	C	2: 177,265,256	T150A	possibly damaging	Het
Gm17535	G	C	9: 3,035,758	V209L	probably benign	Homo
Gm20767	G	A	13: 120,154,913	S96N	possibly damaging	Het
Gm5592	C	T	7: 41,219,105		probably benign	Het
Gm7030	A	G	17: 36,111,287		probably benign	Het
Gpr137	C	T	19: 6,942,005	W51*	probably null	Het
Hbb-bs	T	C	7: 103,826,672	Y146C	probably damaging	Het
Herc1	G	T	9: 66,462,878	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056	N309K	unknown	Het
Hydin	A	T	8: 110,452,060	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,022,894	V133A	probably benign	Het
Lats2	A	T	14: 57,694,418	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433	T859A	probably benign	Het
Rom1	A	G	19: 8,928,824	L117P	probably damaging	Het
Senp6	T	C	9: 80,118,644		probably benign	Het
Sirpb1c	T	C	3: 15,832,076	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236		probably benign	Het
Wapl	A	G	14: 34,692,320	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559	P666L	possibly damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Fbxw11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Fbxw11	APN	11	32722101	missense	possibly damaging	0.94
IGL01828:Fbxw11	APN	11	32720505	missense	probably damaging	1.00
PIT4651001:Fbxw11	UTSW	11	32711999	critical splice donor site	probably null
R0311:Fbxw11	UTSW	11	32722083	missense	probably benign	0.00
R0331:Fbxw11	UTSW	11	32711895	missense	probably damaging	0.99
R0597:Fbxw11	UTSW	11	32720496	missense	probably damaging	1.00
R0989:Fbxw11	UTSW	11	32735149	missense	probably benign	0.17
R1175:Fbxw11	UTSW	11	32711922	missense	probably damaging	0.96
R1327:Fbxw11	UTSW	11	32711859	missense	probably benign	0.00
R1589:Fbxw11	UTSW	11	32733612	missense	probably damaging	1.00
R3155:Fbxw11	UTSW	11	32739244	missense	possibly damaging	0.93
R4084:Fbxw11	UTSW	11	32739248	missense	probably damaging	1.00
R4610:Fbxw11	UTSW	11	32711859	missense	possibly damaging	0.48
R4677:Fbxw11	UTSW	11	32742535	nonsense	probably null
R4694:Fbxw11	UTSW	11	32642820	unclassified	probably benign
R4946:Fbxw11	UTSW	11	32739226	missense	probably damaging	1.00
R5027:Fbxw11	UTSW	11	32652811	intron	probably benign
R5345:Fbxw11	UTSW	11	32738471	missense	probably damaging	1.00
R5459:Fbxw11	UTSW	11	32739191	missense	possibly damaging	0.85
R5820:Fbxw11	UTSW	11	32735374	missense	probably damaging	1.00
R6181:Fbxw11	UTSW	11	32742575	missense	probably benign
R6365:Fbxw11	UTSW	11	32720623	missense	possibly damaging	0.75
R6948:Fbxw11	UTSW	11	32742597	missense	probably damaging	0.98
R7251:Fbxw11	UTSW	11	32731370	missense	probably benign	0.00
R7475:Fbxw11	UTSW	11	32711999	critical splice donor site	probably null
R7893:Fbxw11	UTSW	11	32720489	missense	probably benign
R7970:Fbxw11	UTSW	11	32722101	missense	probably benign	0.00
R8121:Fbxw11	UTSW	11	32720646	missense	possibly damaging	0.78
X0064:Fbxw11	UTSW	11	32711859	missense	probably benign	0.00
Z1177:Fbxw11	UTSW	11	32738480	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCCTCAATGCATTTTAATTGTG -3'
(R):5'- CCGTGAGAAGTGCAGTTACC -3'

Sequencing Primer
(F):5'- TTGTGTGATAAATGGATGAACAAAAG -3'
(R):5'- TGAGAAGTGCAGTTACCTACCTG -3'

Posted On

2016-12-15