Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Fbxo11'

724627

Institutional Source

Beutler Lab

Gene Symbol

Fbxo11

Ensembl Gene

ENSMUSG00000005371

Gene Name

F-box protein 11

Synonyms

GENA 104, Jf

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88298287-88372719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88316098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 368 (H368L)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005504]

AlphaFold

Q7TPD1

Predicted Effect

probably benign
Transcript: ENSMUST00000005504
AA Change: H444L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: H444L

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
low complexity region	21	73	N/A	INTRINSIC
FBOX	162	202	2.44e-8	SMART
PbH1	398	420	1.37e3	SMART
PbH1	421	443	8.83e0	SMART
CASH	421	557	1.31e-7	SMART
PbH1	444	466	6.15e1	SMART
PbH1	467	489	1.78e3	SMART
PbH1	490	512	2.29e2	SMART
PbH1	513	535	7.67e2	SMART
PbH1	536	558	1.36e0	SMART
PbH1	559	581	3.59e0	SMART
CASH	573	695	2.35e0	SMART
PbH1	582	604	8.73e2	SMART
PbH1	605	627	4.28e2	SMART
PbH1	628	650	5.03e2	SMART
PbH1	651	673	3.79e1	SMART
PbH1	674	696	4.73e0	SMART
PbH1	697	719	1.86e2	SMART
CASH	711	840	9.31e-13	SMART
PbH1	720	742	2.91e0	SMART
PbH1	743	765	3.73e2	SMART
PbH1	766	788	1.62e2	SMART
PbH1	789	811	9.99e1	SMART
PbH1	812	833	1.21e3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371
AA Change: H368L

Domain	Start	End	E-Value	Type
FBOX	87	127	2.44e-8	SMART
PbH1	323	345	1.37e3	SMART
PbH1	346	368	8.83e0	SMART
CASH	346	482	1.31e-7	SMART
PbH1	369	391	6.15e1	SMART
PbH1	392	414	1.78e3	SMART
PbH1	415	437	2.29e2	SMART
PbH1	438	460	7.67e2	SMART
PbH1	461	483	1.36e0	SMART
PbH1	484	506	3.59e0	SMART
CASH	498	620	2.35e0	SMART
PbH1	507	529	8.73e2	SMART
PbH1	530	552	4.28e2	SMART
PbH1	553	575	5.03e2	SMART
PbH1	576	598	3.79e1	SMART
PbH1	599	621	4.73e0	SMART
PbH1	622	644	1.86e2	SMART
CASH	636	765	9.31e-13	SMART
PbH1	645	667	2.91e0	SMART
PbH1	668	690	3.73e2	SMART
PbH1	691	713	1.62e2	SMART
PbH1	714	736	9.99e1	SMART
PbH1	737	758	1.21e3	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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 Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cleft palate, facial clefting, and perinatal lethality. Mice homozygous for a knock-out allele show neonatal lethality, thick epidermis, decreased hair follicle number, absent keratohyalin granules, and increased epidermal Snail protein levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,080,480 (GRCm39)	D189E	probably benign	Het
Abca13	A	T	11: 9,240,501 (GRCm39)	H788L	probably benign	Het
Abcb1b	A	G	5: 8,862,779 (GRCm39)	I154V	probably benign	Het
Acsm4	A	G	7: 119,293,872 (GRCm39)	N81S	probably benign	Het
Adamts5	G	A	16: 85,659,674 (GRCm39)	H873Y	probably benign	Het
Aox4	C	T	1: 58,268,020 (GRCm39)	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,229,367 (GRCm39)	V336A	probably damaging	Het
Brca1	C	T	11: 101,416,683 (GRCm39)	E484K	probably damaging	Het
Capn13	T	A	17: 73,672,964 (GRCm39)	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,892,078 (GRCm39)	E274K		Het
Cfh	A	T	1: 140,030,254 (GRCm39)	I891K	probably damaging	Het
Cgn	A	G	3: 94,670,332 (GRCm39)	S1041P	probably damaging	Het
Cldn18	T	C	9: 99,580,915 (GRCm39)	D111G	probably benign	Het
Cnp	G	A	11: 100,467,261 (GRCm39)	R68Q	probably benign	Het
Cntn4	T	A	6: 106,674,525 (GRCm39)	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,029,323 (GRCm39)	I259T	probably benign	Het
Cubn	A	G	2: 13,319,529 (GRCm39)	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,501,648 (GRCm39)	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddc	C	T	11: 11,772,288 (GRCm39)	W349*	probably null	Het
Dennd3	A	G	15: 73,440,563 (GRCm39)	E1198G	probably benign	Het
Dnah1	T	C	14: 31,026,400 (GRCm39)	D826G	probably null	Het
Dpp4	T	C	2: 62,217,429 (GRCm39)	Y56C	probably damaging	Het
Etv6	A	G	6: 134,243,295 (GRCm39)	D350G	possibly damaging	Het
Fat1	C	A	8: 45,406,075 (GRCm39)	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,916,159 (GRCm39)	F418L	probably benign	Het
Fhl2	G	T	1: 43,167,546 (GRCm39)	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,649,461 (GRCm39)	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Greb1	A	T	12: 16,790,038 (GRCm39)	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,684,473 (GRCm39)	S366R	probably benign	Het
Il17b	A	G	18: 61,825,363 (GRCm39)	Q133R	probably benign	Het
Inha	T	A	1: 75,486,211 (GRCm39)	S169T	probably benign	Het
Itsn1	G	A	16: 91,650,055 (GRCm39)	R243H	probably benign	Het
Kcnu1	G	GA	8: 26,403,675 (GRCm39)		probably null	Het
Kdm1b	A	G	13: 47,234,030 (GRCm39)	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,370,308 (GRCm39)	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,628,795 (GRCm39)	G100C	probably benign	Het
Knl1	T	C	2: 118,899,994 (GRCm39)	V565A	probably benign	Het
Knl1	A	T	2: 118,907,425 (GRCm39)	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,580,719 (GRCm39)	V270A	probably benign	Het
Lrrc15	A	G	16: 30,092,517 (GRCm39)	L274P	probably damaging	Het
Mertk	C	T	2: 128,643,255 (GRCm39)	L885F	probably benign	Het
Mpst	T	A	15: 78,294,361 (GRCm39)	L31*	probably null	Het
Ms4a10	T	C	19: 10,944,440 (GRCm39)	T115A	possibly damaging	Het
Myof	A	G	19: 37,923,263 (GRCm39)	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,240,142 (GRCm39)	I201T	probably damaging	Het
Nefh	T	A	11: 4,889,443 (GRCm39)	K1059*	probably null	Het
Nek1	T	C	8: 61,473,107 (GRCm39)	Y168H	probably damaging	Het
Nek11	T	A	9: 105,082,011 (GRCm39)	T531S	probably damaging	Het
Nelfa	G	A	5: 34,059,127 (GRCm39)	P243S	possibly damaging	Het
Niban1	T	C	1: 151,512,193 (GRCm39)	Y32H	probably damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Or13c7d	T	A	4: 43,770,193 (GRCm39)	K273*	probably null	Het
Or52b2	A	C	7: 104,986,520 (GRCm39)	Y134*	probably null	Het
Or9i16	A	G	19: 13,864,861 (GRCm39)	S238P	probably damaging	Het
Otof	A	G	5: 30,539,708 (GRCm39)	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,624,925 (GRCm39)	Y259H	probably benign	Het
Per1	G	T	11: 68,993,554 (GRCm39)	C368F	probably damaging	Het
Pitrm1	G	T	13: 6,605,602 (GRCm39)	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,459,118 (GRCm39)	A119V		Het
Pycard	C	T	7: 127,592,776 (GRCm39)	G17E	probably benign	Het
Rnf13	A	G	3: 57,740,430 (GRCm39)	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,494,689 (GRCm39)	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,691,061 (GRCm39)	V1838A	probably benign	Het
Sgo2b	C	T	8: 64,380,274 (GRCm39)	V853I	probably benign	Het
Slc1a4	T	C	11: 20,282,403 (GRCm39)	T24A	probably benign	Het
Slc8a1	T	C	17: 81,955,407 (GRCm39)	T544A	probably benign	Het
Sntg2	T	C	12: 30,326,732 (GRCm39)	N143S	probably benign	Het
Sphkap	T	C	1: 83,254,989 (GRCm39)	E920G	probably damaging	Het
Srgap2	T	A	1: 131,252,828 (GRCm39)	H132L		Het
Srgap3	A	T	6: 112,748,524 (GRCm39)	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,036,314 (GRCm39)	K434E	probably damaging	Het
Tab2	A	T	10: 7,795,005 (GRCm39)	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,037,246 (GRCm39)	Q666R	possibly damaging	Het
Tekt4	T	C	17: 25,692,782 (GRCm39)		probably null	Het
Tnni3k	G	A	3: 154,667,724 (GRCm39)	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,066,657 (GRCm39)	S690A	probably benign	Het
Trpa1	C	A	1: 14,989,077 (GRCm39)		probably benign	Het
Trpm1	T	G	7: 63,858,132 (GRCm39)	V324G	probably damaging	Het
Usp29	A	G	7: 6,966,179 (GRCm39)	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 41,661,299 (GRCm39)	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,445,724 (GRCm39)	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,356,305 (GRCm39)	F657L	possibly damaging	Het
Vps13d	A	G	4: 144,824,701 (GRCm39)	V2923A		Het
Xylb	T	A	9: 119,201,022 (GRCm39)	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,316,473 (GRCm39)	T95M	probably benign	Het
Zfp263	C	T	16: 3,567,482 (GRCm39)	P599L	probably damaging	Het
Zfp532	A	G	18: 65,789,639 (GRCm39)	E1026G	probably benign	Het
Zfp78	A	G	7: 6,382,078 (GRCm39)	N376S	probably benign	Het

Other mutations in Fbxo11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Fbxo11	APN	17	88,310,324 (GRCm39)	missense	probably benign	0.02
IGL01908:Fbxo11	APN	17	88,299,728 (GRCm39)	missense	probably benign	0.10
IGL02012:Fbxo11	APN	17	88,320,079 (GRCm39)	missense	probably benign	0.00
IGL02149:Fbxo11	APN	17	88,301,187 (GRCm39)	missense	possibly damaging	0.85
IGL02223:Fbxo11	APN	17	88,316,714 (GRCm39)	missense	probably benign	0.03
IGL02586:Fbxo11	APN	17	88,318,711 (GRCm39)	unclassified	probably benign
IGL03265:Fbxo11	APN	17	88,300,259 (GRCm39)	missense	probably damaging	1.00
Gravlachs	UTSW	17	88,304,957 (GRCm39)	missense
R0184:Fbxo11	UTSW	17	88,316,101 (GRCm39)	missense	probably benign	0.19
R0335:Fbxo11	UTSW	17	88,323,041 (GRCm39)	missense	possibly damaging	0.90
R0918:Fbxo11	UTSW	17	88,305,031 (GRCm39)	missense	probably damaging	1.00
R1658:Fbxo11	UTSW	17	88,320,086 (GRCm39)	missense	probably benign	0.01
R3725:Fbxo11	UTSW	17	88,316,714 (GRCm39)	missense	probably benign	0.03
R4194:Fbxo11	UTSW	17	88,316,536 (GRCm39)	missense	possibly damaging	0.94
R4884:Fbxo11	UTSW	17	88,299,761 (GRCm39)	missense	probably damaging	0.99
R4902:Fbxo11	UTSW	17	88,372,702 (GRCm39)	unclassified	probably benign
R5651:Fbxo11	UTSW	17	88,323,136 (GRCm39)	missense	probably benign	0.01
R6137:Fbxo11	UTSW	17	88,316,097 (GRCm39)	missense	probably benign	0.00
R6217:Fbxo11	UTSW	17	88,316,332 (GRCm39)	missense	probably benign	0.00
R6482:Fbxo11	UTSW	17	88,320,086 (GRCm39)	missense	probably benign	0.01
R7383:Fbxo11	UTSW	17	88,310,282 (GRCm39)	missense
R7813:Fbxo11	UTSW	17	88,308,245 (GRCm39)	missense
R7823:Fbxo11	UTSW	17	88,300,610 (GRCm39)	missense	probably damaging	0.98
R7914:Fbxo11	UTSW	17	88,320,031 (GRCm39)	missense
R8835:Fbxo11	UTSW	17	88,321,874 (GRCm39)	missense
R8882:Fbxo11	UTSW	17	88,304,957 (GRCm39)	missense
R8883:Fbxo11	UTSW	17	88,305,044 (GRCm39)	missense
R9056:Fbxo11	UTSW	17	88,310,249 (GRCm39)	missense
R9223:Fbxo11	UTSW	17	88,323,124 (GRCm39)	missense
R9239:Fbxo11	UTSW	17	88,316,522 (GRCm39)	missense
R9574:Fbxo11	UTSW	17	88,321,951 (GRCm39)	missense
R9639:Fbxo11	UTSW	17	88,316,107 (GRCm39)	missense
R9687:Fbxo11	UTSW	17	88,316,494 (GRCm39)	missense
RF002:Fbxo11	UTSW	17	88,303,481 (GRCm39)	missense
X0060:Fbxo11	UTSW	17	88,299,734 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGGTGAGGCTTCAAAG -3'
(R):5'- TGACTGTGAAAACGTCGGAC -3'

Sequencing Primer
(F):5'- GGGTGAGGCTTCAAAGATCATTATC -3'
(R):5'- CGGACTTTATATAACAGATCATGCAC -3'

Posted On

2022-09-12