Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Fbxo30'

216229

Institutional Source

Beutler Lab

Gene Symbol

Fbxo30

Ensembl Gene

ENSMUSG00000047648

Gene Name

F-box protein 30

Synonyms

Fbx30

MMRRC Submission

038892-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11281330-11298052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11291313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 593 (C593F)

Ref Sequence

ENSEMBL: ENSMUSP00000117687 (fasta)

Gene Model

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

AlphaFold

Q8BJL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070300
AA Change: C593F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: C593F

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: C593F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: C593F

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

0.0795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Numbl	C	A	7: 27,273,990	F192L	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably 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
R1583:Fbxo30	UTSW	10	11291374	missense	possibly damaging	0.67
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
R8353:Fbxo30	UTSW	10	11290735	missense	probably benign	0.30
R8453:Fbxo30	UTSW	10	11290735	missense	probably benign	0.30
R8796:Fbxo30	UTSW	10	11289576	missense	probably damaging	1.00
R9215:Fbxo30	UTSW	10	11291499	missense	probably damaging	1.00
R9702:Fbxo30	UTSW	10	11290638	missense	probably benign	0.04
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'- GCCTAAGCAGCGTTCAATGTTTACC -3'
(R):5'- TTCCACGAGACTGAAGTAAACTGCC -3'

Sequencing Primer
(F):5'- TGTATGCGGACAGCTATTTAGAAG -3'
(R):5'- TGAAGTAAACTGCCACAAACGTC -3'

Posted On

2014-07-31