Mutagenetix > Incidental Mutation

Incidental Mutation 'R7475:Fbxw11'

579434

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32642724-32746816 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 32711999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075721 (fasta)

Gene Model

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

AlphaFold

Q5SRY7

Predicted Effect

probably null
Transcript: ENSMUST00000076383

SMART Domains

Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271

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

SMART Domains

Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271

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

SMART Domains

Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,399,989	N214K	probably benign	Het
Abcf1	A	G	17: 35,963,567		probably null	Het
Agxt2	A	T	15: 10,409,537	M508L	probably benign	Het
Akr1c21	A	T	13: 4,576,319	Y114F	probably benign	Het
Amz1	T	C	5: 140,744,186		probably null	Het
Ank1	G	T	8: 23,132,630	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,760,083	S50P	possibly damaging	Het
AW551984	A	G	9: 39,597,940	S302P	probably damaging	Het
Ces3a	T	A	8: 105,053,690		probably null	Het
Dedd	C	A	1: 171,340,313	P185Q	probably benign	Het
Fam186a	A	T	15: 99,947,514	V283E	unknown	Het
Fat2	C	A	11: 55,303,653	V1187F	probably benign	Het
Fcgbp	C	T	7: 28,102,976	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,837,842	D279G	probably benign	Het
Gbp5	A	G	3: 142,501,361	D97G	probably damaging	Het
Gm49368	A	T	7: 128,107,982	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,201,426	D195E	possibly damaging	Het
Hectd4	T	A	5: 121,358,133		probably null	Het
Ifngr2	G	A	16: 91,557,909	C32Y	unknown	Het
Ikzf5	A	T	7: 131,392,059	C280S	probably benign	Het
Ints9	G	T	14: 65,026,465	E395D	probably null	Het
Isoc2b	T	C	7: 4,851,085	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,225,313	S967R	probably benign	Het
Kcnj3	A	T	2: 55,437,326	K42N	probably benign	Het
Kiz	T	C	2: 146,891,086	V394A	possibly damaging	Het
Knl1	A	T	2: 119,087,546	H1795L	probably damaging	Het
Lmntd2	A	G	7: 141,210,689		probably null	Het
Loxhd1	C	A	18: 77,412,305	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,344,576	D1121G		Het
Map3k2	T	C	18: 32,199,962	V63A	possibly damaging	Het
Mcc	G	T	18: 44,476,236	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,026,943	I232F	probably damaging	Het
Meltf	A	G	16: 31,881,938	K92R	probably benign	Het
Mff	T	A	1: 82,745,438		probably null	Het
Mrgpra3	T	A	7: 47,589,947	Y77F	probably damaging	Het
Mylk	G	A	16: 34,914,076		probably null	Het
Ndufv2	A	G	17: 66,087,537	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,825,742	E99G	probably damaging	Het
Nlk	C	A	11: 78,583,399	G358V	probably damaging	Het
Nnmt	A	T	9: 48,592,232	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,393,340	C242*	probably null	Het
Oas1b	A	T	5: 120,817,640	N162I	probably damaging	Het
Olfr1191-ps1	A	G	2: 88,643,210	I148V	probably benign	Het
Otog	A	G	7: 46,267,276	N879S	probably damaging	Het
Park2	A	G	17: 11,434,614	D199G	probably benign	Het
Pcsk7	T	A	9: 45,927,625	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgbd5	T	C	8: 124,434,011	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,505,185	Q800*	probably null	Het
Pkn3	T	C	2: 30,087,110	S621P	probably benign	Het
Polr3c	T	C	3: 96,715,185	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,555,603	G257W	probably benign	Het
Pxylp1	C	T	9: 96,856,367		probably null	Het
Rasgrp1	T	C	2: 117,286,108	T613A	probably benign	Het
Robo3	C	T	9: 37,425,378	V387I	probably benign	Het
Rxfp2	T	A	5: 150,049,581	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,713,552	M746V	probably damaging	Het
Sema4f	T	A	6: 82,914,374	E571D	possibly damaging	Het
Sept3	T	C	15: 82,286,456	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,093,565	K260N	probably benign	Het
Sin3b	A	G	8: 72,749,872	T645A	possibly damaging	Het
Sobp	C	T	10: 43,021,834	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,246,447	L559Q	possibly damaging	Het
Srxn1	C	T	2: 152,105,653		probably benign	Het
Sspo	G	A	6: 48,455,860	R890Q	probably benign	Het
Stard9	A	G	2: 120,688,110	D505G	probably damaging	Het
Tjp1	A	T	7: 65,322,339	I653K	probably damaging	Het
Tnks	C	T	8: 34,831,712	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,748,640	I667N	probably benign	Het
Usp24	T	C	4: 106,342,353	S165P	possibly damaging	Het
Usp46	T	A	5: 74,028,937	K109*	probably null	Het
Vmn1r191	A	G	13: 22,178,772	C271R	probably benign	Het
Wisp3	T	A	10: 39,158,300	Y102F	probably damaging	Het
Zfp592	T	C	7: 81,023,452	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,461,041	S158P	probably benign	Het
Zscan22	T	G	7: 12,906,737	C303G	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
R5802:Fbxw11	UTSW	11	32711790	missense	probably benign	0.18
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
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
R9730:Fbxw11	UTSW	11	32738395	missense	probably damaging	1.00
R9741:Fbxw11	UTSW	11	32735358	missense	probably damaging	1.00
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'- TGGAACGTCATCTGTGATTGTCTC -3'
(R):5'- ACTACATGGCACTTGAGGAAGG -3'

Sequencing Primer
(F):5'- ATTGTCTCCAGAAAGAGGCCGTC -3'
(R):5'- TGGCACTTGAGGAAGGATTAAAATC -3'

Posted On

2019-10-07