Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Fbxo11'

24003

Institutional Source

Beutler Lab

Gene Symbol

Fbxo11

Ensembl Gene

ENSMUSG00000005371

Gene Name

F-box protein 11

Synonyms

GENA 104, Jf

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

88298287-88372719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88316101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 443 (N443I)

Ref Sequence

ENSEMBL: ENSMUSP00000005504 (fasta)

Gene Model

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

AlphaFold

Q7TPD1

Predicted Effect

probably benign
Transcript: ENSMUST00000005504
AA Change: N443I

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: N443I

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

unknown
Transcript: ENSMUST00000130379
AA Change: N367I

SMART Domains

Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371
AA Change: N367I

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

unknown
Transcript: ENSMUST00000135639
AA Change: N8I

Meta Mutation Damage Score

0.4580

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Klk1	C	T	7: 43,878,173 (GRCm39)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Poli	A	G	18: 70,655,802 (GRCm39)	S248P	probably damaging	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim25	C	T	11: 88,890,466 (GRCm39)	P51L	probably damaging	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Twf1	T	A	15: 94,478,948 (GRCm39)		probably null	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,469,863 (GRCm39)	M86T	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Vrk2	C	A	11: 26,500,046 (GRCm39)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	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
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
R9616:Fbxo11	UTSW	17	88,316,098 (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'- TCAGCCATGAGAACTACTGGGTGAG -3'
(R):5'- TCAGTGACTGTGAAAACGTCGGAC -3'

Sequencing Primer
(F):5'- GGCTTCAAAGATCATTATCAATTCG -3'
(R):5'- ACAGATCATGCACAGGTACTT -3'

Posted On

2013-04-16