Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Fbxw11'

177750

Institutional Source

Beutler Lab

Gene Symbol

Fbxw11

Ensembl Gene

ENSMUSG00000020271

Gene Name

F-box and WD-40 domain protein 11

Synonyms

2310065A07Rik, BTRC2, Fbxw1b, HOS, BTRCP2

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32592724-32696816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32683612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 301 (T301M)

Ref Sequence

ENSEMBL: ENSMUSP00000090893 (fasta)

Gene Model

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

AlphaFold

Q5SRY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076383
AA Change: T322M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: T322M

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 damaging
Transcript: ENSMUST00000093205
AA Change: T301M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: T301M

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 damaging
Transcript: ENSMUST00000109366
AA Change: T288M

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

SMART Domains

Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: T288M

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

Meta Mutation Damage Score

0.5727

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,685,501 (GRCm39)		probably benign	Het
Aadacl2	C	T	3: 59,917,997 (GRCm39)	T82I	probably benign	Het
Acadl	T	C	1: 66,892,382 (GRCm39)	N147S	probably benign	Het
Actr3	A	T	1: 125,336,300 (GRCm39)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,834,452 (GRCm39)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,187,118 (GRCm39)	T472S	probably damaging	Het
Asb16	A	T	11: 102,159,821 (GRCm39)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm39)	D172G	probably benign	Het
Bax	T	C	7: 45,114,671 (GRCm39)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,118 (GRCm39)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,789,325 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,049,471 (GRCm39)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,724,452 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,960 (GRCm39)	P603S	probably benign	Het
Cep95	G	T	11: 106,690,930 (GRCm39)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,762,792 (GRCm39)		probably null	Het
Cntnap5a	T	C	1: 115,987,930 (GRCm39)	F154L	possibly damaging	Het
Cyld	A	T	8: 89,436,618 (GRCm39)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,597,288 (GRCm39)	S370P	probably damaging	Het
Enah	G	T	1: 181,749,858 (GRCm39)	T327K	probably damaging	Het
Farp2	A	T	1: 93,507,582 (GRCm39)	S427C	probably damaging	Het
Foxc2	A	T	8: 121,843,915 (GRCm39)	T188S	probably benign	Het
Fzd2	A	G	11: 102,497,154 (GRCm39)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,680,334 (GRCm39)	S248*	probably null	Het
Glul	A	T	1: 153,781,284 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,871,887 (GRCm39)	T946A	probably benign	Het
Golga3	T	A	5: 110,329,649 (GRCm39)	D2E	probably damaging	Het
Grm1	A	T	10: 10,595,711 (GRCm39)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,403,368 (GRCm39)	L247P	probably benign	Het
Hgf	T	G	5: 16,818,783 (GRCm39)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,808,696 (GRCm39)	D719E	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga9	T	C	9: 118,436,185 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,431,939 (GRCm39)	C16S	probably damaging	Het
Itgb1	G	T	8: 129,431,940 (GRCm39)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,236,020 (GRCm39)	I251V	probably benign	Het
Kdsr	A	T	1: 106,662,271 (GRCm39)		probably null	Het
Kif12	T	A	4: 63,084,737 (GRCm39)	E527V	probably benign	Het
Larp1b	T	C	3: 40,987,909 (GRCm39)	S44P	probably damaging	Het
Lonp2	T	C	8: 87,399,700 (GRCm39)		probably benign	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,529,187 (GRCm39)	S32G	probably benign	Het
Mdm2	G	A	10: 117,526,434 (GRCm39)	T335M	probably benign	Het
Mettl25	A	G	10: 105,615,493 (GRCm39)	Y504H	probably damaging	Het
Mill1	T	C	7: 17,979,572 (GRCm39)	I13T	probably benign	Het
Mmachc	T	A	4: 116,560,721 (GRCm39)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,339,413 (GRCm39)	I5L	probably benign	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Mtcl2	A	T	2: 156,869,557 (GRCm39)	M1026K	probably benign	Het
Mtmr11	A	G	3: 96,075,429 (GRCm39)	T370A	probably benign	Het
Nmi	T	C	2: 51,848,989 (GRCm39)	I34V	possibly damaging	Het
Obscn	A	T	11: 58,926,901 (GRCm39)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,047,822 (GRCm39)	I24T	probably benign	Het
Omp	G	T	7: 97,794,566 (GRCm39)	D20E	probably benign	Het
Or2ag19	A	G	7: 106,444,403 (GRCm39)	Y195C	possibly damaging	Het
Or52e8b	A	G	7: 104,673,767 (GRCm39)	V140A	probably benign	Het
Or5b120	C	T	19: 13,480,121 (GRCm39)	T138M	probably benign	Het
Or6c69	A	G	10: 129,747,550 (GRCm39)	V199A	probably benign	Het
Otog	A	G	7: 45,933,332 (GRCm39)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,607,462 (GRCm39)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,299,808 (GRCm39)	I481V	probably benign	Het
Rbp3	A	T	14: 33,677,749 (GRCm39)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,781,525 (GRCm39)	D125G	probably benign	Het
Scn11a	A	G	9: 119,598,873 (GRCm39)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,911,830 (GRCm39)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,087,806 (GRCm39)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,791,173 (GRCm39)	V8I	probably benign	Het
Spen	T	C	4: 141,215,335 (GRCm39)	D499G	unknown	Het
Stk32c	A	G	7: 138,698,931 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,388,261 (GRCm39)	V485A	probably benign	Het
Tcerg1l	A	G	7: 137,963,496 (GRCm39)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,089,880 (GRCm39)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,282,444 (GRCm39)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,523,525 (GRCm39)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,954,715 (GRCm39)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,996,608 (GRCm39)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,612,254 (GRCm39)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,888,699 (GRCm39)	V24A	probably benign	Het
Usp30	T	C	5: 114,251,022 (GRCm39)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,783,479 (GRCm39)		probably benign	Het
Vmn2r81	C	A	10: 79,128,858 (GRCm39)	T583N	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,687,315 (GRCm39)	V239L	probably benign	Het
Wdr17	C	T	8: 55,156,942 (GRCm39)		probably benign	Het
Zfhx4	A	C	3: 5,306,789 (GRCm39)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,160,184 (GRCm39)		probably null	Het

Other mutations in Fbxw11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Fbxw11	APN	11	32,672,101 (GRCm39)	missense	possibly damaging	0.94
IGL01828:Fbxw11	APN	11	32,670,505 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Fbxw11	UTSW	11	32,661,999 (GRCm39)	critical splice donor site	probably null
R0311:Fbxw11	UTSW	11	32,672,083 (GRCm39)	missense	probably benign	0.00
R0331:Fbxw11	UTSW	11	32,661,895 (GRCm39)	missense	probably damaging	0.99
R0597:Fbxw11	UTSW	11	32,670,496 (GRCm39)	missense	probably damaging	1.00
R0989:Fbxw11	UTSW	11	32,685,149 (GRCm39)	missense	probably benign	0.17
R1175:Fbxw11	UTSW	11	32,661,922 (GRCm39)	missense	probably damaging	0.96
R1327:Fbxw11	UTSW	11	32,661,859 (GRCm39)	missense	probably benign	0.00
R3155:Fbxw11	UTSW	11	32,689,244 (GRCm39)	missense	possibly damaging	0.93
R4084:Fbxw11	UTSW	11	32,689,248 (GRCm39)	missense	probably damaging	1.00
R4610:Fbxw11	UTSW	11	32,661,859 (GRCm39)	missense	possibly damaging	0.48
R4677:Fbxw11	UTSW	11	32,692,535 (GRCm39)	nonsense	probably null
R4694:Fbxw11	UTSW	11	32,592,820 (GRCm39)	unclassified	probably benign
R4946:Fbxw11	UTSW	11	32,689,226 (GRCm39)	missense	probably damaging	1.00
R5027:Fbxw11	UTSW	11	32,602,811 (GRCm39)	intron	probably benign
R5345:Fbxw11	UTSW	11	32,688,471 (GRCm39)	missense	probably damaging	1.00
R5459:Fbxw11	UTSW	11	32,689,191 (GRCm39)	missense	possibly damaging	0.85
R5802:Fbxw11	UTSW	11	32,661,790 (GRCm39)	missense	probably benign	0.18
R5820:Fbxw11	UTSW	11	32,685,374 (GRCm39)	missense	probably damaging	1.00
R6181:Fbxw11	UTSW	11	32,692,575 (GRCm39)	missense	probably benign
R6365:Fbxw11	UTSW	11	32,670,623 (GRCm39)	missense	possibly damaging	0.75
R6948:Fbxw11	UTSW	11	32,692,597 (GRCm39)	missense	probably damaging	0.98
R7251:Fbxw11	UTSW	11	32,681,370 (GRCm39)	missense	probably benign	0.00
R7475:Fbxw11	UTSW	11	32,661,999 (GRCm39)	critical splice donor site	probably null
R7893:Fbxw11	UTSW	11	32,670,489 (GRCm39)	missense	probably benign
R7970:Fbxw11	UTSW	11	32,672,101 (GRCm39)	missense	probably benign	0.00
R8121:Fbxw11	UTSW	11	32,670,646 (GRCm39)	missense	possibly damaging	0.78
R9730:Fbxw11	UTSW	11	32,688,395 (GRCm39)	missense	probably damaging	1.00
R9741:Fbxw11	UTSW	11	32,685,358 (GRCm39)	missense	probably damaging	1.00
X0064:Fbxw11	UTSW	11	32,661,859 (GRCm39)	missense	probably benign	0.00
Z1177:Fbxw11	UTSW	11	32,688,480 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCATAAGGAAAGCCGTGTGAC -3'
(R):5'- TGGCTAGGAGAGCATAGTGCCATC -3'

Sequencing Primer
(F):5'- AAAGCCGTGTGACTATTCTGC -3'
(R):5'- GGAGAGCATAGTGCCATCTCTATAC -3'

Posted On

2014-04-24