Mutagenetix > Incidental Mutations

Incidental Mutation 'R1583:Fbxo30'

177261

Institutional Source

Beutler Lab

Gene Symbol

Fbxo30

Ensembl Gene

ENSMUSG00000047648

Gene Name

F-box protein 30

Synonyms

Fbx30

MMRRC Submission

039620-MU

Accession Numbers

Ncbi RefSeq: NM_027968.3, NM_001168297.1; MGI: 1919115

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11281330-11298052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11291374 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 613 (H613Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070300] [ENSMUST00000129456]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070300
AA Change: H613Q

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: H613Q

Domain	Start	End	E-Value	Type
Pfam:zf-TRAF_2	8	100	2.5e-42	PFAM
Pfam:F-box_4	610	725	1.6e-52	PFAM
Pfam:F-box	612	653	3e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129456
AA Change: H613Q

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: H613Q

Domain	Start	End	E-Value	Type
PDB:2YRE\|A	1	88	6e-51	PDB
SCOP:d1k2fa_	58	93	7e-3	SMART
Pfam:F-box	612	653	2.3e-7	PFAM

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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 the 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 and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831		probably null	Het
Ankar	A	G	1: 72,679,555		probably benign	Het
Aplf	A	T	6: 87,646,033	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389		probably benign	Het
Catsperb	T	C	12: 101,463,114	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118	L136R	probably damaging	Het
Frk	A	T	10: 34,591,810		probably null	Het
Gm10392	T	A	11: 77,517,481	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765		probably benign	Het
Klhl21	T	C	4: 152,009,624	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478		probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621		probably null	Het
Mga	T	A	2: 119,963,960	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185	T669S	probably benign	Het
Nin	C	T	12: 70,031,738	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627		probably benign	Het
Ptk2b	T	C	14: 66,163,114	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291	S31T	possibly damaging	Het

Other mutations in Fbxo30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Fbxo30	APN	10	11290539	missense	probably benign	0.01
IGL00971:Fbxo30	APN	10	11290298	missense	probably benign
IGL02388:Fbxo30	APN	10	11290378	missense	probably benign	0.01
PIT4468001:Fbxo30	UTSW	10	11290956	missense	possibly damaging	0.95
R0014:Fbxo30	UTSW	10	11289859	nonsense	probably null
R0144:Fbxo30	UTSW	10	11295220	missense	probably damaging	1.00
R0709:Fbxo30	UTSW	10	11291313	missense	possibly damaging	0.79
R1791:Fbxo30	UTSW	10	11289787	nonsense	probably null
R2018:Fbxo30	UTSW	10	11291028	missense	probably damaging	0.98
R2317:Fbxo30	UTSW	10	11290334	missense	probably damaging	0.98
R3842:Fbxo30	UTSW	10	11290112	missense	probably damaging	0.98
R4579:Fbxo30	UTSW	10	11289549	missense	probably benign	0.00
R4655:Fbxo30	UTSW	10	11291093	missense	probably damaging	1.00
R4751:Fbxo30	UTSW	10	11290195	missense	probably benign	0.01
R4998:Fbxo30	UTSW	10	11290763	missense	probably damaging	0.98
R5325:Fbxo30	UTSW	10	11291102	missense	possibly damaging	0.89
R5463:Fbxo30	UTSW	10	11291069	missense	probably damaging	1.00
R5534:Fbxo30	UTSW	10	11289665	missense	possibly damaging	0.91
R5594:Fbxo30	UTSW	10	11290479	missense	probably benign	0.13
R5757:Fbxo30	UTSW	10	11290421	missense	probably benign	0.08
R5917:Fbxo30	UTSW	10	11289518	critical splice acceptor site	probably null
R6232:Fbxo30	UTSW	10	11289858	missense	possibly damaging	0.90
R6472:Fbxo30	UTSW	10	11291231	missense	probably damaging	1.00
R6677:Fbxo30	UTSW	10	11290636	missense	possibly damaging	0.61
R6802:Fbxo30	UTSW	10	11291480	missense	probably damaging	1.00
R7128:Fbxo30	UTSW	10	11290116	nonsense	probably null
X0012:Fbxo30	UTSW	10	11290466	missense	probably benign	0.00
X0066:Fbxo30	UTSW	10	11290812	missense	probably damaging	1.00
Z1176:Fbxo30	UTSW	10	11295320	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGGACTCAATGGATGGATGGAAC -3'
(R):5'- AGCACGAGTAAGTGACTACTTGATGC -3'

Sequencing Primer
(F):5'- ATGGAACAGAGGTGTCCTTTAGC -3'
(R):5'- GTAAGTGACTACTTGATGCTAAGAG -3'

Posted On

2014-04-24