Mutagenetix > Incidental Mutation

Incidental Mutation 'R9056:Fbxo11'

688719

Institutional Source

Beutler Lab

Gene Symbol

Fbxo11

Ensembl Gene

ENSMUSG00000005371

Gene Name

F-box protein 11

Synonyms

GENA 104, Jf

MMRRC Submission

068882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9056 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88298287-88372719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88310249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 443 (I443K)

Gene Model

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

AlphaFold

Q7TPD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005504
AA Change: I519K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: I519K

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: I443K

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: 99.5%
20x: 98.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,414,921 (GRCm39)	I3996T	probably damaging	Het
Adgra1	A	G	7: 139,432,492 (GRCm39)	N110S	probably damaging	Het
Arhgap31	T	C	16: 38,427,017 (GRCm39)	T612A	probably benign	Het
Atp13a4	C	T	16: 29,290,706 (GRCm39)		probably null	Het
C1rb	T	C	6: 124,553,984 (GRCm39)	S352P	probably damaging	Het
Cc2d2b	T	C	19: 40,784,216 (GRCm39)	I671T	unknown	Het
Cmas	A	G	6: 142,710,105 (GRCm39)	D116G	probably damaging	Het
Col24a1	T	C	3: 145,021,009 (GRCm39)	V460A	probably damaging	Het
Cracdl	G	A	1: 37,663,553 (GRCm39)	R782C	possibly damaging	Het
Cubn	T	G	2: 13,461,466 (GRCm39)	D687A	probably damaging	Het
Cul9	A	C	17: 46,854,696 (GRCm39)	V2G	probably damaging	Het
Elp3	T	C	14: 65,797,582 (GRCm39)	Y382C	probably damaging	Het
Fdps	G	A	3: 89,006,639 (GRCm39)	R84W	probably benign	Het
Helz	C	T	11: 107,547,019 (GRCm39)	A1112V	possibly damaging	Het
Herc1	T	A	9: 66,380,782 (GRCm39)	M3553K	probably benign	Het
Hspa12a	T	C	19: 58,813,720 (GRCm39)	Y135C	probably damaging	Het
Hspa1l	A	G	17: 35,196,849 (GRCm39)	Y296C	probably benign	Het
Ifna12	T	G	4: 88,521,079 (GRCm39)	E156A	possibly damaging	Het
Ilf3	C	T	9: 21,314,434 (GRCm39)	Q689*	probably null	Het
Ints1	A	G	5: 139,760,041 (GRCm39)		probably null	Het
Itga8	T	A	2: 12,235,019 (GRCm39)	D413V	possibly damaging	Het
Kcnd3	C	T	3: 105,574,290 (GRCm39)	L492F	possibly damaging	Het
Kcnh5	T	C	12: 74,944,774 (GRCm39)	K825R	probably benign	Het
Kcnma1	A	G	14: 23,700,214 (GRCm39)	I194T	possibly damaging	Het
Kmo	A	G	1: 175,465,108 (GRCm39)	R30G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,801 (GRCm39)	G52C	unknown	Het
Ksr1	A	G	11: 78,918,465 (GRCm39)	V563A	possibly damaging	Het
Lyn	A	T	4: 3,780,925 (GRCm39)	M355L	possibly damaging	Het
Med13	A	T	11: 86,189,660 (GRCm39)	L1083*	probably null	Het
Mfsd13a	A	G	19: 46,354,900 (GRCm39)	T26A	probably benign	Het
Mup14	T	C	4: 61,259,430 (GRCm39)	I41V	probably benign	Het
Myo9b	T	A	8: 71,804,906 (GRCm39)	S1466T	probably benign	Het
Nampt	T	C	12: 32,888,458 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,317,885 (GRCm39)	Y1941H	probably damaging	Het
Nyap2	C	T	1: 81,314,314 (GRCm39)	A670V	probably benign	Het
Or10h28	A	G	17: 33,487,794 (GRCm39)	Y32C	probably damaging	Het
Or2aj6	A	G	16: 19,443,791 (GRCm39)	S20P	probably benign	Het
Or4k44	T	C	2: 111,368,488 (GRCm39)	I49V	probably benign	Het
Or4m1	T	C	14: 50,557,999 (GRCm39)	I98V	probably damaging	Het
Or8g31-ps1	T	C	9: 39,276,416 (GRCm39)	V187A	unknown	Het
Pcdh15	A	G	10: 74,221,731 (GRCm39)	D677G	probably damaging	Het
Pogz	T	A	3: 94,787,530 (GRCm39)	S1373T	probably benign	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qpctl	T	A	7: 18,880,961 (GRCm39)	D157V	probably damaging	Het
Rbbp8	T	C	18: 11,810,677 (GRCm39)	F60L	possibly damaging	Het
Ripor1	T	A	8: 106,344,072 (GRCm39)	L402Q	possibly damaging	Het
Rptn	C	T	3: 93,304,412 (GRCm39)	H582Y	probably benign	Het
Rusc1	T	A	3: 88,996,990 (GRCm39)	Q611L	probably damaging	Het
Ryr2	A	G	13: 11,610,817 (GRCm39)	V4003A	possibly damaging	Het
Siglech	T	A	7: 55,422,294 (GRCm39)	W300R	probably benign	Het
Slc25a51	T	C	4: 45,399,494 (GRCm39)	D232G	probably damaging	Het
Slc6a11	T	A	6: 114,220,905 (GRCm39)	C479S	probably benign	Het
Spata31h1	T	C	10: 82,127,101 (GRCm39)	T1970A	probably benign	Het
Sspo	G	T	6: 48,450,608 (GRCm39)	G2599V	probably damaging	Het
Tfpt	T	A	7: 3,627,604 (GRCm39)	E116V	probably null	Het
Tmem260	T	A	14: 48,717,774 (GRCm39)	V121E	probably benign	Het
Tmem54	T	C	4: 129,002,120 (GRCm39)	F45L	probably benign	Het
Trim2	T	A	3: 84,080,128 (GRCm39)	N631I	probably damaging	Het
Tshr	C	T	12: 91,474,563 (GRCm39)	T179I	probably damaging	Het
Vmn1r40	A	G	6: 89,691,198 (GRCm39)	N5S	probably benign	Het
Vmn2r68	A	G	7: 84,871,420 (GRCm39)	V621A	possibly damaging	Het
Zc2hc1c	TTTATCC	T	12: 85,343,230 (GRCm39)		probably benign	Het
Zfp644	G	A	5: 106,783,944 (GRCm39)	Q837*	probably null	Het
Zfp773	A	T	7: 7,135,989 (GRCm39)	N202K	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
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
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'- ACACACAGAGATACTTTAAGAGCTA -3'
(R):5'- CCTACCTTTGAATGTGTTTATAGGAAC -3'

Sequencing Primer
(F):5'- AAAAaccaccaccaccac -3'
(R):5'- GGCTGGCCTTGAACTCAGAAATTC -3'

Posted On

2021-11-19