Mutagenetix > Incidental Mutation

Incidental Mutation 'R4677:Fbxw11'

349680

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

042014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R4677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32592724-32696816 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 32692535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 502 (L502*)

Ref Sequence

ENSEMBL: ENSMUSP00000104991 (fasta)

Gene Model

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

AlphaFold

Q5SRY7

Predicted Effect

probably null
Transcript: ENSMUST00000076383
AA Change: L536*

SMART Domains

Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: L536*

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 null
Transcript: ENSMUST00000093205
AA Change: L515*

SMART Domains

Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: L515*

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 null
Transcript: ENSMUST00000109366
AA Change: L502*

SMART Domains

Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: L502*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (85/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,793,587 (GRCm39)	M1T	probably null	Het
Akap3	T	C	6: 126,842,226 (GRCm39)	S282P	probably damaging	Het
Anxa10	A	G	8: 62,516,054 (GRCm39)	I206T	probably damaging	Het
Apobec3	A	G	15: 79,779,713 (GRCm39)	D52G	probably damaging	Het
Arl6	A	T	16: 59,439,228 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,626,329 (GRCm39)	E87G	probably damaging	Het
Ccdc88b	C	A	19: 6,825,636 (GRCm39)	A1206S	probably damaging	Het
Ccpg1	A	G	9: 72,923,197 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,901 (GRCm39)	N852D	probably damaging	Het
Cobl	T	A	11: 12,336,665 (GRCm39)	Q41L	possibly damaging	Het
Cspg4b	A	G	13: 113,516,020 (GRCm39)	T145A	unknown	Het
Dcdc2b	T	C	4: 129,507,936 (GRCm39)	T39A	probably damaging	Het
Ddx55	A	T	5: 124,705,997 (GRCm39)	D474V	probably benign	Het
Dipk2a	A	T	9: 94,402,457 (GRCm39)	C402S	probably damaging	Het
Dnah17	A	G	11: 118,010,640 (GRCm39)	L521P	probably damaging	Het
Exoc1	A	G	5: 76,707,010 (GRCm39)	D497G	probably null	Het
Fam151a	A	G	4: 106,605,456 (GRCm39)	E606G	possibly damaging	Het
Fcrl1	A	G	3: 87,297,563 (GRCm39)	S337G	possibly damaging	Het
G6pc1	C	A	11: 101,267,439 (GRCm39)	F296L	probably benign	Het
Gm17472	C	A	6: 42,957,809 (GRCm39)	T26N	probably damaging	Het
Grin2b	A	G	6: 135,751,870 (GRCm39)	V564A	probably benign	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
Hhip	A	G	8: 80,771,726 (GRCm39)	Y195H	probably damaging	Het
Igkc	A	T	6: 70,703,662 (GRCm39)		probably benign	Het
Islr	A	T	9: 58,064,642 (GRCm39)	D288E	probably damaging	Het
Kdelr1	A	G	7: 45,523,197 (GRCm39)	S36G	probably benign	Het
Lama5	G	T	2: 179,821,159 (GRCm39)	H3134Q	possibly damaging	Het
Loricrin	A	G	3: 91,989,050 (GRCm39)	Y79H	unknown	Het
Lrp1b	A	G	2: 40,691,496 (GRCm39)	F3327S	probably damaging	Het
Lrrc41	C	T	4: 115,952,332 (GRCm39)	H637Y	probably benign	Het
Map2k6	C	T	11: 110,290,220 (GRCm39)		probably benign	Het
Mcm3ap	T	G	10: 76,306,404 (GRCm39)	F172L	probably damaging	Het
Muc19	G	A	15: 91,772,411 (GRCm39)		noncoding transcript	Het
Muc21	T	A	17: 35,930,599 (GRCm39)		probably benign	Het
Muc6	T	A	7: 141,224,212 (GRCm39)		probably benign	Het
Nek1	A	T	8: 61,481,840 (GRCm39)	I252L	probably damaging	Het
Nrg2	A	T	18: 36,154,152 (GRCm39)	H588Q	possibly damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Or1j12	A	G	2: 36,343,062 (GRCm39)	N155S	probably benign	Het
Or51b17	T	C	7: 103,542,615 (GRCm39)	E109G	probably damaging	Het
Or5m5	A	G	2: 85,814,315 (GRCm39)	T44A	possibly damaging	Het
Or8k1	A	T	2: 86,048,032 (GRCm39)	S7R	probably benign	Het
Pde3a	A	G	6: 141,411,865 (GRCm39)	N480D	probably benign	Het
Pde6c	A	G	19: 38,145,833 (GRCm39)	K374E	probably damaging	Het
Pdhx	G	A	2: 102,903,811 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,100,237 (GRCm39)	Y1888H	probably damaging	Het
Pnpla2	T	A	7: 141,038,356 (GRCm39)	M203K	probably damaging	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptcd3	G	T	6: 71,870,498 (GRCm39)	H321N	probably benign	Het
Ptprt	A	G	2: 161,743,366 (GRCm39)		probably null	Het
Ptx4	A	G	17: 25,342,100 (GRCm39)	T192A	probably benign	Het
Qars1	A	G	9: 108,386,889 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,187,387 (GRCm39)	P1372S	possibly damaging	Het
Rps6ka4	G	T	19: 6,816,854 (GRCm39)	T107K	probably damaging	Het
Rsf1	A	G	7: 97,329,980 (GRCm39)	T1169A	possibly damaging	Het
Ryr2	C	A	13: 11,721,553 (GRCm39)	W2626L	probably damaging	Het
Scn4a	C	T	11: 106,214,788 (GRCm39)	V1270I	probably damaging	Het
Serpinb9b	T	C	13: 33,223,806 (GRCm39)	S333P	probably damaging	Het
Sned1	A	G	1: 93,224,019 (GRCm39)		probably benign	Het
Sult1c2	C	T	17: 54,137,137 (GRCm39)	V262M	possibly damaging	Het
Tll1	A	T	8: 64,504,411 (GRCm39)	F662I	probably benign	Het
Tmem161a	A	T	8: 70,633,597 (GRCm39)		probably null	Het
Top1mt	A	C	15: 75,535,907 (GRCm39)	V465G	possibly damaging	Het
Trcg1	A	G	9: 57,153,144 (GRCm39)	K596E	possibly damaging	Het
Trim27	T	A	13: 21,365,086 (GRCm39)		probably null	Het
Trpm3	A	G	19: 22,964,752 (GRCm39)	I1406V	possibly damaging	Het
Tssc4	T	A	7: 142,624,246 (GRCm39)	S254T	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Usp30	A	G	5: 114,257,705 (GRCm39)	T288A	probably damaging	Het
Usp48	C	A	4: 137,343,692 (GRCm39)	R441S	probably benign	Het
Vmn1r29	T	C	6: 58,284,285 (GRCm39)	S2P	probably benign	Het
Vmn2r65	T	A	7: 84,613,082 (GRCm39)	I46L	possibly damaging	Het
Zeb1	A	T	18: 5,766,775 (GRCm39)	I429F	probably damaging	Het
Zfp943	A	G	17: 22,212,176 (GRCm39)	R421G	probably benign	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
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
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'- TTCTCAGGGAAAGGATGCG -3'
(R):5'- CAGAAGTGAGCGAGGTCTTG -3'

Sequencing Primer
(F):5'- ACCACGCAGGAGGCATTG -3'
(R):5'- TCTTGAAGAGCCCAGGCAG -3'

Posted On

2015-10-08