Mutagenetix > Incidental Mutation

Incidental Mutation 'N/A - 287:Fbxo10'

166

Institutional Source

Beutler Lab

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

LOC269529, FBX10

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

N/A - 287 of strain 287

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45034248-45084604 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 45044708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052236]

AlphaFold

Q7TQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000052236

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232

Domain	Start	End	E-Value	Type
FBOX	6	48	1.92e-6	SMART
PbH1	198	217	8.34e3	SMART
PbH1	238	260	1.37e3	SMART
CASH	337	511	7.29e-6	SMART
PbH1	423	444	1.41e2	SMART
PbH1	467	489	1.33e3	SMART
PbH1	490	512	1.32e2	SMART
PbH1	513	535	8.34e3	SMART
PbH1	536	558	2.87e1	SMART
CASH	536	672	5.49e1	SMART
PbH1	559	581	1.25e1	SMART
PbH1	582	604	2.64e2	SMART
PbH1	605	627	6.05e3	SMART
PbH1	628	650	2.46e2	SMART
PbH1	651	673	2.14e2	SMART
CASH	681	804	6.58e1	SMART
PbH1	713	735	6.52e2	SMART
PbH1	736	758	5.92e2	SMART
PbH1	760	782	1.13e3	SMART
PbH1	783	805	1.86e2	SMART
PbH1	828	850	9.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140008

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232

Domain	Start	End	E-Value	Type
PbH1	25	44	8.34e3	SMART
PbH1	65	87	1.37e3	SMART
CASH	164	338	7.29e-6	SMART
PbH1	250	271	1.41e2	SMART
PbH1	294	316	1.33e3	SMART
PbH1	317	339	1.32e2	SMART
PbH1	340	362	8.34e3	SMART
PbH1	363	385	2.87e1	SMART
CASH	363	499	5.49e1	SMART
PbH1	386	408	1.25e1	SMART
PbH1	409	431	2.64e2	SMART
PbH1	432	454	6.05e3	SMART
PbH1	455	477	2.46e2	SMART
PbH1	478	500	2.14e2	SMART
CASH	508	631	6.58e1	SMART
PbH1	540	562	6.52e2	SMART
PbH1	563	585	5.92e2	SMART
PbH1	587	609	1.13e3	SMART
PbH1	610	632	1.86e2	SMART
PbH1	655	677	9.32e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155583

Coding Region Coverage

1x: 88.3%
3x: 72.3%

Validation Efficiency

81% (138/170)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 3 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fndc5	G	A	4: 129,033,142 (GRCm39)	D70N	probably damaging	Homo
Pkhd1l1	A	G	15: 44,445,654 (GRCm39)	T3779A	probably damaging	Het
Sorl1	A	T	9: 41,952,892 (GRCm39)	C716*	probably null	Homo

Other mutations in Fbxo10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Fbxo10	APN	4	45,058,684 (GRCm39)	missense	probably damaging	0.98
IGL02073:Fbxo10	APN	4	45,046,349 (GRCm39)	missense	possibly damaging	0.94
IGL02097:Fbxo10	APN	4	45,048,527 (GRCm39)	missense	probably benign	0.24
IGL02315:Fbxo10	APN	4	45,062,469 (GRCm39)	missense	probably benign	0.08
IGL02403:Fbxo10	APN	4	45,062,517 (GRCm39)	missense	probably benign	0.01
IGL02408:Fbxo10	APN	4	45,058,361 (GRCm39)	missense	possibly damaging	0.75
IGL02496:Fbxo10	APN	4	45,043,883 (GRCm39)	missense	probably damaging	1.00
IGL02583:Fbxo10	APN	4	45,044,754 (GRCm39)	missense	probably damaging	1.00
IGL02794:Fbxo10	APN	4	45,041,928 (GRCm39)	missense	probably benign	0.20
R1033:Fbxo10	UTSW	4	45,062,236 (GRCm39)	missense	probably damaging	1.00
R1102:Fbxo10	UTSW	4	45,043,672 (GRCm39)	missense	probably damaging	1.00
R1583:Fbxo10	UTSW	4	45,062,118 (GRCm39)	missense	probably damaging	1.00
R1586:Fbxo10	UTSW	4	45,042,036 (GRCm39)	missense	possibly damaging	0.82
R1789:Fbxo10	UTSW	4	45,046,389 (GRCm39)	missense	probably damaging	1.00
R2187:Fbxo10	UTSW	4	45,058,531 (GRCm39)	missense	probably benign	0.09
R2191:Fbxo10	UTSW	4	45,044,811 (GRCm39)	missense	probably damaging	1.00
R2377:Fbxo10	UTSW	4	45,044,719 (GRCm39)	missense	probably benign	0.18
R2425:Fbxo10	UTSW	4	45,051,642 (GRCm39)	missense	possibly damaging	0.60
R2495:Fbxo10	UTSW	4	45,040,545 (GRCm39)	missense	probably benign	0.00
R4105:Fbxo10	UTSW	4	45,059,054 (GRCm39)	missense	probably benign	0.01
R4472:Fbxo10	UTSW	4	45,043,693 (GRCm39)	missense	probably damaging	1.00
R4480:Fbxo10	UTSW	4	45,048,470 (GRCm39)	missense	probably damaging	1.00
R4985:Fbxo10	UTSW	4	45,040,692 (GRCm39)	missense	probably benign	0.33
R5193:Fbxo10	UTSW	4	45,051,573 (GRCm39)	nonsense	probably null
R5309:Fbxo10	UTSW	4	45,042,036 (GRCm39)	missense	possibly damaging	0.82
R5312:Fbxo10	UTSW	4	45,042,036 (GRCm39)	missense	possibly damaging	0.82
R5348:Fbxo10	UTSW	4	45,058,934 (GRCm39)	missense	probably damaging	1.00
R5694:Fbxo10	UTSW	4	45,035,970 (GRCm39)	missense	probably damaging	1.00
R5844:Fbxo10	UTSW	4	45,058,760 (GRCm39)	missense	probably benign	0.09
R5974:Fbxo10	UTSW	4	45,040,631 (GRCm39)	missense	probably benign	0.18
R5990:Fbxo10	UTSW	4	45,061,960 (GRCm39)	missense	probably damaging	1.00
R6197:Fbxo10	UTSW	4	45,043,857 (GRCm39)	missense	probably benign	0.03
R6359:Fbxo10	UTSW	4	45,041,796 (GRCm39)	missense	possibly damaging	0.93
R6808:Fbxo10	UTSW	4	45,059,035 (GRCm39)	missense	probably benign	0.00
R6873:Fbxo10	UTSW	4	45,041,787 (GRCm39)	missense	possibly damaging	0.94
R6921:Fbxo10	UTSW	4	45,044,849 (GRCm39)	missense	probably damaging	1.00
R7089:Fbxo10	UTSW	4	45,062,230 (GRCm39)	missense	possibly damaging	0.90
R7120:Fbxo10	UTSW	4	45,040,533 (GRCm39)	nonsense	probably null
R7498:Fbxo10	UTSW	4	45,062,194 (GRCm39)	missense	probably benign	0.04
R7872:Fbxo10	UTSW	4	45,051,699 (GRCm39)	missense	not run
R8022:Fbxo10	UTSW	4	45,062,062 (GRCm39)	missense	possibly damaging	0.93
R8161:Fbxo10	UTSW	4	45,044,793 (GRCm39)	missense	probably damaging	1.00
R8416:Fbxo10	UTSW	4	45,058,942 (GRCm39)	missense	possibly damaging	0.83
R8419:Fbxo10	UTSW	4	45,041,809 (GRCm39)	missense	possibly damaging	0.72
R8744:Fbxo10	UTSW	4	45,043,880 (GRCm39)	missense	probably benign
R8798:Fbxo10	UTSW	4	45,051,605 (GRCm39)	missense	possibly damaging	0.47
R8887:Fbxo10	UTSW	4	45,058,887 (GRCm39)	missense	probably benign
R9273:Fbxo10	UTSW	4	45,062,178 (GRCm39)	missense	probably benign
R9548:Fbxo10	UTSW	4	45,058,970 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at base pair 45057580 in the Genbank genomic region NC_000070 (Build 37.1) for the Fbxo10 gene on Chromosome 4 (GTGAGGACAC ->GTGAGGATAC). The mutation is located within intron 8, eight nucleotides from the previous exon 8 (from the ATG exon). The Fbxo10 transcript contains 11 total exons. Three transcripts of the Fbxo10 gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Fbxo10 gene encodes a 950 amino acid protein that may be involved in ruffle formation during cell migration (Uniprot Q505G2). The FBXO10 protein contains an N-terminal FBOX domain, multiple parallel beta-helix (PbH1) repeats, and two CASH domains present in carbohydrate binding proteins and sugar hydrolases (SMART).

Posted On

2010-04-08