Mutagenetix > Incidental Mutation

Incidental Mutation 'R5917:Fbxo30'

461409

Institutional Source

Beutler Lab

Gene Symbol

Fbxo30

Ensembl Gene

ENSMUSG00000047648

Gene Name

F-box protein 30

Synonyms

1700026A16Rik

MMRRC Submission

044114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11157074-11173796 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 11165262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117687 (fasta)

Gene Model

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

AlphaFold

Q8BJL1

Predicted Effect

probably null
Transcript: ENSMUST00000070300

SMART Domains

Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648

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

probably null
Transcript: ENSMUST00000129456

SMART Domains

Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,516 (GRCm39)	R1153*	probably null	Het
Amdhd1	T	C	10: 93,360,332 (GRCm39)	H409R	possibly damaging	Het
Anks1b	C	T	10: 90,412,803 (GRCm39)		probably benign	Het
Ascc2	T	C	11: 4,631,506 (GRCm39)	L649P	probably benign	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Clec4a4	A	T	6: 122,981,017 (GRCm39)	K83N	probably benign	Het
Comp	T	A	8: 70,829,011 (GRCm39)		probably null	Het
Cryz	T	A	3: 154,327,403 (GRCm39)	S144T	probably benign	Het
Ctss	A	G	3: 95,450,424 (GRCm39)	D125G	probably benign	Het
Dact1	G	T	12: 71,365,456 (GRCm39)	V746L	possibly damaging	Het
Dhx29	A	G	13: 113,099,377 (GRCm39)	H1134R	probably damaging	Het
Dlgap4	A	G	2: 156,546,460 (GRCm39)	D376G	probably damaging	Het
Dnah3	T	A	7: 119,615,749 (GRCm39)	H1660L	probably damaging	Het
Ep300	T	A	15: 81,512,808 (GRCm39)		probably benign	Het
Fcrl2	T	A	3: 87,164,094 (GRCm39)	H345L	probably damaging	Het
Galnt11	C	A	5: 25,452,670 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,682,846 (GRCm39)	C87R	probably benign	Het
Itga4	A	T	2: 79,117,442 (GRCm39)	Q416L	probably damaging	Het
Kcnt2	A	T	1: 140,461,666 (GRCm39)	T806S	probably damaging	Het
Lama2	A	G	10: 27,066,693 (GRCm39)	S1063P	probably damaging	Het
Lama4	T	A	10: 38,924,028 (GRCm39)	S479T	probably benign	Het
Lgi4	C	T	7: 30,759,603 (GRCm39)	T53M	possibly damaging	Het
Limk1	A	G	5: 134,686,789 (GRCm39)	F533L	probably damaging	Het
Loxl1	A	G	9: 58,220,006 (GRCm39)	L55P	probably damaging	Het
Map1a	A	G	2: 121,135,697 (GRCm39)	E1933G	probably damaging	Het
Matn2	T	A	15: 34,409,912 (GRCm39)	C447*	probably null	Het
Mmrn1	T	C	6: 60,950,134 (GRCm39)		probably null	Het
Or2a7	C	T	6: 43,151,646 (GRCm39)	S242F	probably damaging	Het
Or4a66	A	T	2: 88,531,049 (GRCm39)	I208N	possibly damaging	Het
Or4d1	A	T	11: 87,805,215 (GRCm39)	N172K	probably damaging	Het
Otor	A	G	2: 142,920,431 (GRCm39)	I4M	probably benign	Het
P2rx3	A	T	2: 84,865,591 (GRCm39)	V18E	probably damaging	Het
Pcdh7	T	C	5: 57,879,097 (GRCm39)	V884A	probably damaging	Het
Pcdhb4	T	A	18: 37,442,619 (GRCm39)	V643D	probably damaging	Het
Pelo	A	G	13: 115,225,930 (GRCm39)	S176P	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,183 (GRCm39)	V380E	probably benign	Het
Proc	T	A	18: 32,260,513 (GRCm39)	D204V	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Resf1	T	C	6: 149,236,179 (GRCm39)	F1500L	probably damaging	Het
Rtl1	T	G	12: 109,558,087 (GRCm39)	T1251P	possibly damaging	Het
Sema6a	T	G	18: 47,414,405 (GRCm39)	I482L	probably benign	Het
Smpdl3a	T	A	10: 57,681,654 (GRCm39)		probably null	Het
Strc	T	A	2: 121,209,790 (GRCm39)	M178L	probably benign	Het
Taok1	A	T	11: 77,451,144 (GRCm39)	M312K	probably damaging	Het
Tle2	T	C	10: 81,416,750 (GRCm39)		probably null	Het
Tle3	A	G	9: 61,316,190 (GRCm39)	D296G	probably benign	Het
Trank1	A	G	9: 111,191,485 (GRCm39)	D498G	probably benign	Het
Vars1	C	A	17: 35,231,491 (GRCm39)	L672M	probably damaging	Het
Vps13d	G	A	4: 144,826,580 (GRCm39)	T2866I	probably damaging	Het
Zfp423	C	A	8: 88,508,860 (GRCm39)	E370*	probably null	Het
Zfp521	T	A	18: 13,978,612 (GRCm39)	K600N	probably damaging	Het
Zfp788	A	G	7: 41,298,572 (GRCm39)	K351E	probably benign	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Fbxo30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Fbxo30	APN	10	11,166,283 (GRCm39)	missense	probably benign	0.01
IGL00971:Fbxo30	APN	10	11,166,042 (GRCm39)	missense	probably benign
IGL02388:Fbxo30	APN	10	11,166,122 (GRCm39)	missense	probably benign	0.01
PIT4468001:Fbxo30	UTSW	10	11,166,700 (GRCm39)	missense	possibly damaging	0.95
R0014:Fbxo30	UTSW	10	11,165,603 (GRCm39)	nonsense	probably null
R0144:Fbxo30	UTSW	10	11,170,964 (GRCm39)	missense	probably damaging	1.00
R0709:Fbxo30	UTSW	10	11,167,057 (GRCm39)	missense	possibly damaging	0.79
R1583:Fbxo30	UTSW	10	11,167,118 (GRCm39)	missense	possibly damaging	0.67
R1791:Fbxo30	UTSW	10	11,165,531 (GRCm39)	nonsense	probably null
R2018:Fbxo30	UTSW	10	11,166,772 (GRCm39)	missense	probably damaging	0.98
R2317:Fbxo30	UTSW	10	11,166,078 (GRCm39)	missense	probably damaging	0.98
R3842:Fbxo30	UTSW	10	11,165,856 (GRCm39)	missense	probably damaging	0.98
R4579:Fbxo30	UTSW	10	11,165,293 (GRCm39)	missense	probably benign	0.00
R4655:Fbxo30	UTSW	10	11,166,837 (GRCm39)	missense	probably damaging	1.00
R4751:Fbxo30	UTSW	10	11,165,939 (GRCm39)	missense	probably benign	0.01
R4998:Fbxo30	UTSW	10	11,166,507 (GRCm39)	missense	probably damaging	0.98
R5325:Fbxo30	UTSW	10	11,166,846 (GRCm39)	missense	possibly damaging	0.89
R5463:Fbxo30	UTSW	10	11,166,813 (GRCm39)	missense	probably damaging	1.00
R5534:Fbxo30	UTSW	10	11,165,409 (GRCm39)	missense	possibly damaging	0.91
R5594:Fbxo30	UTSW	10	11,166,223 (GRCm39)	missense	probably benign	0.13
R5757:Fbxo30	UTSW	10	11,166,165 (GRCm39)	missense	probably benign	0.08
R6232:Fbxo30	UTSW	10	11,165,602 (GRCm39)	missense	possibly damaging	0.90
R6472:Fbxo30	UTSW	10	11,166,975 (GRCm39)	missense	probably damaging	1.00
R6677:Fbxo30	UTSW	10	11,166,380 (GRCm39)	missense	possibly damaging	0.61
R6802:Fbxo30	UTSW	10	11,167,224 (GRCm39)	missense	probably damaging	1.00
R7128:Fbxo30	UTSW	10	11,165,860 (GRCm39)	nonsense	probably null
R8353:Fbxo30	UTSW	10	11,166,479 (GRCm39)	missense	probably benign	0.30
R8453:Fbxo30	UTSW	10	11,166,479 (GRCm39)	missense	probably benign	0.30
R8796:Fbxo30	UTSW	10	11,165,320 (GRCm39)	missense	probably damaging	1.00
R9215:Fbxo30	UTSW	10	11,167,243 (GRCm39)	missense	probably damaging	1.00
R9702:Fbxo30	UTSW	10	11,166,382 (GRCm39)	missense	probably benign	0.04
X0012:Fbxo30	UTSW	10	11,166,210 (GRCm39)	missense	probably benign	0.00
X0066:Fbxo30	UTSW	10	11,166,556 (GRCm39)	missense	probably damaging	1.00
Z1176:Fbxo30	UTSW	10	11,171,064 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGCTGAAAATAGCACTGTTGTTAG -3'
(R):5'- GCCGATGTTCGTCAGCTTTAC -3'

Sequencing Primer
(F):5'- CTAAGTGCTTAAGTTCCTGTAAGAGG -3'
(R):5'- GTTCGTCAGCTTTACAAGAATGG -3'

Posted On

2017-02-28