Mutagenetix > Incidental Mutation

Incidental Mutation 'R0597:Fbxw11'

55130

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

038786-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R0597 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

32592724-32696816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32670496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

Ref Sequence

ENSEMBL: ENSMUSP00000104991 (fasta)

Gene Model

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

AlphaFold

Q5SRY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076383
AA Change: E154G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: E154G

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

possibly damaging
Transcript: ENSMUST00000093205
AA Change: E133G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: E133G

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: E120G

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

SMART Domains

Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: E120G

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

0.2918

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,352,631 (GRCm39)		probably null	Het
Anxa11	T	C	14: 25,874,652 (GRCm39)	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,225,871 (GRCm39)	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,880,584 (GRCm39)		probably benign	Het
Btn2a2	T	A	13: 23,670,580 (GRCm39)	H51L	probably benign	Het
Casz1	T	C	4: 149,028,851 (GRCm39)	S1099P	probably benign	Het
Cnot4	A	G	6: 35,028,438 (GRCm39)	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,112,191 (GRCm39)		probably benign	Het
Cobl	T	C	11: 12,204,699 (GRCm39)	T586A	probably benign	Het
Crocc	T	C	4: 140,747,224 (GRCm39)	K1528R	probably benign	Het
Crocc	A	G	4: 140,744,382 (GRCm39)	L1838P	probably benign	Het
Dact2	A	G	17: 14,417,303 (GRCm39)	V299A	probably benign	Het
Dapk1	C	A	13: 60,909,198 (GRCm39)	N1270K	probably benign	Het
Ddx41	T	C	13: 55,680,819 (GRCm39)	Y375C	probably damaging	Het
Dock5	T	A	14: 68,022,383 (GRCm39)		probably null	Het
Dyrk4	T	G	6: 126,863,612 (GRCm39)		probably null	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fam210b	A	G	2: 172,187,773 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,819,712 (GRCm39)	I229T	probably benign	Het
Fbxo39	A	G	11: 72,207,747 (GRCm39)	D33G	probably damaging	Het
Fbxw2	A	T	2: 34,701,032 (GRCm39)	L261Q	probably damaging	Het
Gm5800	A	C	14: 51,953,461 (GRCm39)	N51K	probably benign	Het
Gm6899	A	G	11: 26,543,768 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,035 (GRCm39)	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351 (GRCm39)	V1095M	probably damaging	Het
Grip2	T	C	6: 91,773,178 (GRCm39)		probably benign	Het
Hacd4	A	G	4: 88,355,757 (GRCm39)	F43L	probably damaging	Het
Hif1a	T	G	12: 73,989,049 (GRCm39)	S645R	probably benign	Het
Hipk3	A	G	2: 104,263,982 (GRCm39)	S839P	possibly damaging	Het
Idi2l	C	A	13: 8,990,802 (GRCm39)		probably benign	Het
Il16	A	T	7: 83,327,183 (GRCm39)		probably benign	Het
Il3ra	T	A	14: 14,351,166 (GRCm38)		probably null	Het
Il5ra	A	G	6: 106,721,296 (GRCm39)	M1T	probably null	Het
Klra2	G	A	6: 131,197,148 (GRCm39)	R251C	probably benign	Het
Lamc2	C	T	1: 153,009,367 (GRCm39)	V813M	probably benign	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Map3k6	C	T	4: 132,972,863 (GRCm39)	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,529,609 (GRCm39)	E140G	probably benign	Het
Med1	T	C	11: 98,060,264 (GRCm39)	M222V	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Muc19	A	T	15: 91,784,696 (GRCm39)		noncoding transcript	Het
Nr1h2	A	G	7: 44,201,684 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,706,592 (GRCm39)		probably null	Het
Or2w6	C	A	13: 21,843,316 (GRCm39)	R59L	probably damaging	Het
Or56a42-ps1	A	G	7: 104,777,425 (GRCm39)	V73A	possibly damaging	Het
Or5ac23	A	T	16: 59,149,123 (GRCm39)	F250I	probably damaging	Het
P4hb	G	A	11: 120,459,070 (GRCm39)	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,534,202 (GRCm39)	V101A	probably benign	Het
Pou4f2	A	G	8: 79,161,869 (GRCm39)	S245P	probably benign	Het
Pramel26	G	T	4: 143,539,222 (GRCm39)	N90K	probably damaging	Het
Rnpep	A	G	1: 135,200,157 (GRCm39)	V266A	probably damaging	Het
Scly	G	A	1: 91,237,555 (GRCm39)	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,024,814 (GRCm39)	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,781,874 (GRCm39)	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,001,190 (GRCm39)	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,843,249 (GRCm39)	F377L	probably benign	Het
Slc44a3	T	C	3: 121,253,719 (GRCm39)	I625V	probably benign	Het
Slc47a2	A	T	11: 61,200,802 (GRCm39)	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 82,926,479 (GRCm39)		noncoding transcript	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Sort1	A	G	3: 108,246,226 (GRCm39)	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,195,897 (GRCm39)	M1I	probably null	Het
Sycp2	A	C	2: 177,998,373 (GRCm39)	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,502,775 (GRCm39)	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,564 (GRCm39)	C303*	probably null	Het
Vmn2r23	A	G	6: 123,706,680 (GRCm39)	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,240,670 (GRCm39)	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399 (GRCm39)	N1882D	probably benign	Het
Zfp91	T	C	19: 12,747,459 (GRCm39)	I555V	possibly damaging	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
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
R1589:Fbxw11	UTSW	11	32,683,612 (GRCm39)	missense	probably damaging	1.00
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'- CAGACAGCTCTCATGGCAAGAACAG -3'
(R):5'- GCCCTGAGTAATCAAGCTGACAGTG -3'

Sequencing Primer
(F):5'- TTGCTCTTGCGTGTTGTACC -3'
(R):5'- GTGCATCAAGGAAACTTTCTCC -3'

Posted On

2013-07-11