Mutagenetix > Incidental Mutation

Incidental Mutation 'R9574:Fbxo11'

722228

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 #

R9574 (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 C at 88321951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 84 (E84G)

Gene Model

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

AlphaFold

Q7TPD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005504
AA Change: E160G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: E160G

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: E84G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,496 (GRCm39)	E697V	probably damaging	Het
Actn4	T	C	7: 28,594,864 (GRCm39)	D805G	probably benign	Het
Adam2	C	T	14: 66,275,071 (GRCm39)	S554N	probably benign	Het
Adra2b	A	G	2: 127,206,283 (GRCm39)	T267A	probably benign	Het
Apobec4	A	T	1: 152,632,415 (GRCm39)	T148S	probably damaging	Het
B4galt1	T	A	4: 40,853,766 (GRCm39)	M14L	probably benign	Het
Bok	C	A	1: 93,616,947 (GRCm39)	Q98K	probably benign	Het
Cacnb4	A	T	2: 52,327,016 (GRCm39)	L394Q	probably damaging	Het
Ccar2	T	C	14: 70,381,105 (GRCm39)	K287E	probably benign	Het
Cdyl2	T	A	8: 117,350,669 (GRCm39)	E154V	probably benign	Het
Cenpn	T	G	8: 117,660,149 (GRCm39)	Y160D	probably damaging	Het
Cfap20	T	C	8: 96,149,514 (GRCm39)	Y58C	probably benign	Het
Creb5	T	A	6: 53,658,039 (GRCm39)	L123Q	unknown	Het
Cspg4	G	A	9: 56,797,342 (GRCm39)	V1269M	probably damaging	Het
Cyp2b19	G	T	7: 26,466,353 (GRCm39)	K385N	probably null	Het
Cyp2b19	A	T	7: 26,466,352 (GRCm39)	K385M	probably damaging	Het
Ercc2	C	A	7: 19,124,060 (GRCm39)	D422E	probably benign	Het
Fbxl12	A	G	9: 20,550,109 (GRCm39)	V129A	possibly damaging	Het
Fmn1	T	C	2: 113,425,402 (GRCm39)	L1192S	probably damaging	Het
Galk2	T	C	2: 125,824,979 (GRCm39)	F392L	probably benign	Het
Gas2l3	G	A	10: 89,258,135 (GRCm39)	H153Y	probably damaging	Het
Gcn1	A	T	5: 115,713,341 (GRCm39)	K101N	possibly damaging	Het
Gmfg	C	T	7: 28,145,359 (GRCm39)	Q101*	probably null	Het
Gpr108	C	T	17: 57,545,039 (GRCm39)	C309Y	probably damaging	Het
H3c8	T	C	13: 23,719,761 (GRCm39)	L49P	probably damaging	Het
Hscb	A	T	5: 110,982,595 (GRCm39)	I164N	probably damaging	Het
Kifc2	T	C	15: 76,546,397 (GRCm39)	W260R	probably damaging	Het
Lrp6	T	A	6: 134,447,662 (GRCm39)	D995V	possibly damaging	Het
Lrrc1	T	A	9: 77,358,708 (GRCm39)	I308F	probably damaging	Het
Map7	C	T	10: 20,153,966 (GRCm39)	A694V	unknown	Het
Mapre2	A	G	18: 23,965,993 (GRCm39)	D68G	probably benign	Het
Mertk	A	T	2: 128,593,880 (GRCm39)	I295F	probably benign	Het
Mst1	T	A	9: 107,962,053 (GRCm39)	C690*	probably null	Het
Nde1	A	G	16: 13,988,345 (GRCm39)	E76G	probably damaging	Het
Nek5	T	C	8: 22,564,040 (GRCm39)	T597A	probably benign	Het
Nup210l	T	C	3: 90,117,693 (GRCm39)	F1800L	probably benign	Het
Or5c1	A	G	2: 37,222,148 (GRCm39)	I130V	possibly damaging	Het
Pdpn	T	A	4: 142,997,101 (GRCm39)	D131V	probably benign	Het
Pgap6	T	C	17: 26,337,861 (GRCm39)	V415A	probably damaging	Het
Pot1a	T	C	6: 25,775,718 (GRCm39)	T118A	possibly damaging	Het
Prom1	A	G	5: 44,158,179 (GRCm39)	I843T	probably benign	Het
Prrt3	T	C	6: 113,474,587 (GRCm39)	T212A	probably benign	Het
Rabgap1	A	G	2: 37,433,246 (GRCm39)		probably null	Het
Rarb	A	T	14: 16,574,858 (GRCm38)	S53T	probably damaging	Het
Rnft2	A	G	5: 118,375,330 (GRCm39)	S140P	probably benign	Het
Rxfp1	T	C	3: 79,563,581 (GRCm39)	M362V	probably benign	Het
Sall2	G	A	14: 52,551,617 (GRCm39)	T526M	probably damaging	Het
Scube1	T	C	15: 83,501,000 (GRCm39)	D598G		Het
Sema3f	T	A	9: 107,566,972 (GRCm39)	I186F	possibly damaging	Het
Shank2	A	G	7: 143,622,462 (GRCm39)	T199A	possibly damaging	Het
Sipa1l2	T	A	8: 126,169,453 (GRCm39)	M1427L	probably benign	Het
Sis	C	T	3: 72,828,490 (GRCm39)	G1195D	probably benign	Het
Slc25a39	A	T	11: 102,295,390 (GRCm39)	H193Q	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Srgn	A	C	10: 62,343,444 (GRCm39)	L17R	probably damaging	Het
Stard5	A	G	7: 83,281,944 (GRCm39)	N34D	probably benign	Het
Syt8	A	T	7: 141,993,203 (GRCm39)	D220V	probably damaging	Het
Tex15	A	G	8: 34,064,509 (GRCm39)	E1313G	probably benign	Het
Tmem131l	T	C	3: 83,868,911 (GRCm39)	R155G	probably damaging	Het
Tmem220	T	C	11: 66,916,093 (GRCm39)	V30A	probably damaging	Het
Tollip	A	G	7: 141,445,731 (GRCm39)	I119T	probably damaging	Het
Treml4	G	A	17: 48,571,672 (GRCm39)	G25D	probably damaging	Het
Trim7	T	C	11: 48,728,460 (GRCm39)	F36S	probably damaging	Het
Txnrd3	T	A	6: 89,640,166 (GRCm39)	C293*	probably null	Het
Utp14b	A	G	1: 78,643,482 (GRCm39)	D460G	probably benign	Het
Vmn2r41	T	A	7: 8,153,329 (GRCm39)	N397Y	probably benign	Het
Vmn2r67	T	C	7: 84,786,017 (GRCm39)	I663V	probably benign	Het
Zfp292	T	A	4: 34,839,460 (GRCm39)	H135L	probably damaging	Het
Zfp420	C	T	7: 29,575,480 (GRCm39)	R567*	probably null	Het
Zfp518b	C	T	5: 38,830,773 (GRCm39)	V411M	probably benign	Het
Zfp638	T	A	6: 83,956,680 (GRCm39)	D1762E	probably damaging	Het
Zfp691	T	A	4: 119,028,230 (GRCm39)	M1L	possibly 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
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
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'- GCAGCTTCGGTGTCACACA -3'
(R):5'- GAGCTCTAATCTTTCCCTCTATAACT -3'

Sequencing Primer
(F):5'- ACACACCGTCCGTCTTTCAAGG -3'
(R):5'- GGAAGCTTTTCAAGACTGCC -3'

Posted On

2022-08-09