Mutagenetix > Incidental Mutations

Incidental Mutation 'R6181:Fbxw11'

488097

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

044323-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32642724-32746816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32742575 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 515 (N515K)

Ref Sequence

ENSEMBL: ENSMUSP00000104991 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000076383
AA Change: N549K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: N549K

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: N528K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: N528K

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: N515K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: N515K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

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
4930548H24Rik	A	G	5: 31,488,055	E384G	probably damaging	Het
Akr1b7	A	G	6: 34,415,378	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,548,877	H369L	probably benign	Het
Ano7	T	C	1: 93,395,359	S474P	probably damaging	Het
Aox3	T	C	1: 58,158,946	V639A	probably benign	Het
Arhgef2	T	A	3: 88,635,620	V358E	probably damaging	Het
BC017158	A	G	7: 128,297,460		probably null	Het
Brpf3	A	G	17: 28,810,581	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331	T120A	probably damaging	Het
Clasp1	T	G	1: 118,419,817	S32A	probably benign	Het
Clca2	A	T	3: 145,090,708	L246*	probably null	Het
Clcn7	A	G	17: 25,151,728	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,933,744	D322E	probably benign	Het
Cmtm4	A	C	8: 104,356,365		probably null	Het
Cntnap2	C	T	6: 46,759,808	P723S	probably damaging	Het
Col6a3	T	A	1: 90,816,374	T84S	possibly damaging	Het
Corin	A	G	5: 72,372,096		probably null	Het
Cubn	G	A	2: 13,349,876	T1903I	probably benign	Het
Cyp27b1	A	C	10: 127,050,410	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,485,620	K652R	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock1	T	A	7: 135,158,522	M1638K	probably damaging	Het
Eya1	T	C	1: 14,302,872	S8G	probably damaging	Het
Fam193a	T	A	5: 34,443,540		probably null	Het
Fam208a	T	A	14: 27,472,278	M1145K	probably benign	Het
Gm11639	T	C	11: 104,831,333	S1924P	probably benign	Het
Gm13083	T	A	4: 143,616,258		probably null	Het
Gm609	A	G	16: 45,417,897	S185P	probably benign	Het
Gm6408	T	C	5: 146,483,772	V154A	possibly damaging	Het
Guf1	A	G	5: 69,561,716	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,823,232	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,340,984	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,501,975	D61V	probably damaging	Het
Lrp5	T	C	19: 3,628,427	D476G	probably damaging	Het
Luzp1	A	G	4: 136,543,267	T934A	probably benign	Het
Mboat7	A	T	7: 3,683,885	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,112,584	R12G	probably benign	Het
Micall2	T	A	5: 139,716,751	T246S	probably benign	Het
Npepps	A	G	11: 97,242,004	V299A	probably damaging	Het
Olfr1381	T	A	11: 49,552,293	V182D	probably damaging	Het
P2ry13	A	G	3: 59,209,907	V150A	probably benign	Het
Pdc	T	C	1: 150,333,270	I168T	probably damaging	Het
Pde8b	C	T	13: 95,086,808	E313K	probably benign	Het
Pgap1	C	T	1: 54,512,777	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,132,523	C259*	probably null	Het
Ptgs1	A	G	2: 36,251,119	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,699,999	L271P	probably damaging	Het
Rbm47	T	C	5: 66,026,490	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,647,520	D104N	probably damaging	Het
Rhobtb3	A	G	13: 75,910,689	I330T	probably benign	Het
Rnf207	T	C	4: 152,308,848	T570A	probably benign	Het
Sbpl	T	C	17: 23,953,492	H151R	probably damaging	Het
Sstr3	T	C	15: 78,539,461	D362G	probably benign	Het
St7	T	C	6: 17,694,364		probably null	Het
Tdrd6	A	G	17: 43,628,897	V420A	probably damaging	Het
Tet2	C	A	3: 133,487,759	E305*	probably null	Het
Tmem209	A	T	6: 30,505,971	V68E	probably damaging	Het
Tmod4	A	T	3: 95,127,807	I208F	probably damaging	Het
Tpo	G	A	12: 30,131,885	L4F	probably benign	Het
Urb1	T	C	16: 90,779,094	H858R	probably benign	Het
Utrn	A	G	10: 12,739,456	W324R	probably damaging	Het
V1rd19	T	A	7: 24,003,215	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,606,267	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,187,282	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,073,757	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,583,864	A459T	probably benign	Het
Vwf	G	T	6: 125,566,146	A132S	probably damaging	Het
Zfp202	G	A	9: 40,207,342	G17E	probably damaging	Het
Zfp608	A	G	18: 54,895,628	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,257,142	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,587,941	G246S	probably damaging	Het
Zwint	T	C	10: 72,656,599	V115A	probably benign	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
R5802:Fbxw11	UTSW	11	32711790	missense	probably benign	0.18
R5820:Fbxw11	UTSW	11	32735374	missense	probably damaging	1.00
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'- TTCCCGCCTGAGCTAAATCC -3'
(R):5'- AGTCTGGTAGATGCTTTCATTCAC -3'

Sequencing Primer
(F):5'- AGCTAAATCCCAGCTCTGGTGATAG -3'
(R):5'- GGTAGATGCTTTCATTCACATCAC -3'

Posted On

2017-10-10