Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Fbxo11'

26235

Institutional Source

Beutler Lab

Gene Symbol

Fbxo11

Ensembl Gene

ENSMUSG00000005371

Gene Name

F-box protein 11

Synonyms

GENA 104, Jf

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88298287-88372719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88323041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 115 (A115V)

Ref Sequence

ENSEMBL: ENSMUSP00000005504 (fasta)

Gene Model

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

AlphaFold

Q7TPD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005504
AA Change: A115V

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: A115V

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: A40V

SMART Domains

Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371
AA Change: A40V

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

Meta Mutation Damage Score

0.0871

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	G	T	15: 11,311,144 (GRCm39)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,225,259 (GRCm39)	T460A	probably benign	Het
Amer3	A	C	1: 34,618,381 (GRCm39)		probably benign	Het
Arhgap22	C	T	14: 33,081,065 (GRCm39)		probably benign	Het
Arhgap32	T	G	9: 32,171,056 (GRCm39)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,260,601 (GRCm39)	T26M	probably damaging	Het
Begain	A	T	12: 109,004,860 (GRCm39)	F256I	probably damaging	Het
Bltp1	T	C	3: 37,023,301 (GRCm39)	V2210A	probably damaging	Het
Cabin1	A	T	10: 75,492,883 (GRCm39)	I1804N	probably damaging	Het
Cad	G	A	5: 31,231,329 (GRCm39)		probably benign	Het
Carmil1	G	A	13: 24,257,966 (GRCm39)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,420,706 (GRCm39)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,635 (GRCm39)		probably null	Het
Cep15	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
Clip2	T	A	5: 134,564,069 (GRCm39)		probably benign	Het
Cmip	T	C	8: 118,172,105 (GRCm39)	I480T	probably damaging	Het
Cnot1	A	T	8: 96,498,628 (GRCm39)	I203K	probably benign	Het
Col18a1	G	A	10: 76,895,197 (GRCm39)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,364,503 (GRCm39)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,071,860 (GRCm39)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,326,938 (GRCm39)	D61E	possibly damaging	Het
Def6	A	G	17: 28,447,043 (GRCm39)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,046,382 (GRCm39)		probably benign	Het
Dvl2	G	A	11: 69,891,861 (GRCm39)		probably benign	Het
Ecd	A	C	14: 20,370,802 (GRCm39)	V639G	probably benign	Het
Epg5	C	T	18: 78,029,687 (GRCm39)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,298,418 (GRCm39)	M657I	probably benign	Het
Evi5	T	C	5: 107,960,277 (GRCm39)	R431G	probably benign	Het
Fgfr2	T	C	7: 129,797,979 (GRCm39)	T192A	probably benign	Het
Gas7	C	T	11: 67,552,878 (GRCm39)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,263,489 (GRCm39)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm39)	Q41H	probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm7535	A	G	17: 18,131,374 (GRCm39)		probably benign	Het
Gstm1	T	A	3: 107,920,012 (GRCm39)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 79,135,375 (GRCm39)	P252L	probably benign	Het
Hmgb1	A	G	5: 148,987,441 (GRCm39)	V36A	probably benign	Het
Hrh1	G	T	6: 114,457,193 (GRCm39)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,370,294 (GRCm39)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,772,141 (GRCm39)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,895,166 (GRCm39)	N433K	possibly damaging	Het
Kif1a	T	A	1: 92,980,288 (GRCm39)		probably benign	Het
Lctl	C	A	9: 64,026,169 (GRCm39)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,300,608 (GRCm39)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,584,378 (GRCm39)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,259,193 (GRCm39)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,957,574 (GRCm39)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,434,056 (GRCm39)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,400,577 (GRCm39)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,093,561 (GRCm39)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,962,116 (GRCm39)	I567V	probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or11l3	T	C	11: 58,516,566 (GRCm39)	Y102C	probably damaging	Het
Or13p8	A	G	4: 118,584,367 (GRCm39)	I308V	probably null	Het
Or5v1b	A	C	17: 37,841,533 (GRCm39)	I222L	probably benign	Het
Or7g16	T	A	9: 18,727,290 (GRCm39)	Q100L	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm39)	E209G	probably benign	Het
Plch1	T	C	3: 63,618,399 (GRCm39)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 29,105,852 (GRCm39)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,596,457 (GRCm39)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,514,046 (GRCm39)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,544,589 (GRCm39)	I314V	probably benign	Het
Rabl2	T	C	15: 89,468,169 (GRCm39)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm39)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,512,435 (GRCm39)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,828,572 (GRCm39)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Septin2	T	C	1: 93,423,321 (GRCm39)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 33,032,639 (GRCm39)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,574,208 (GRCm39)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,515,032 (GRCm39)	R42L	probably damaging	Het
St14	G	A	9: 31,002,620 (GRCm39)		probably benign	Het
Stxbp1	C	T	2: 32,692,917 (GRCm39)		probably benign	Het
Tas2r131	C	T	6: 132,934,792 (GRCm39)	V6I	probably benign	Het
Tdo2	T	A	3: 81,871,307 (GRCm39)	M235L	probably benign	Het
Tenm3	T	G	8: 48,685,140 (GRCm39)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 78,821,630 (GRCm39)		probably benign	Het
Tmx1	A	G	12: 70,500,030 (GRCm39)	N30D	probably benign	Het
Tom1	A	G	8: 75,791,020 (GRCm39)		probably null	Het
Top2a	T	C	11: 98,913,781 (GRCm39)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,540,049 (GRCm39)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm39)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,641 (GRCm39)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,945,317 (GRCm39)		probably null	Het
Vps11	T	C	9: 44,265,135 (GRCm39)	Q641R	probably null	Het
Wapl	T	A	14: 34,414,281 (GRCm39)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,016,601 (GRCm39)	G794E	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
R0184:Fbxo11	UTSW	17	88,316,101 (GRCm39)	missense	probably benign	0.19
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'- TCGAAGTAGAGGCACCCTTCAAAAC -3'
(R):5'- TTCGGAACGACACATCTCTTCACAC -3'

Sequencing Primer
(F):5'- ACCCTTCAAAACCAAGAAGAAAAC -3'
(R):5'- TGCCAGATAGTCATCCAGTCG -3'

Posted On

2013-04-16