Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Fbxo10'

279647

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

FBX10, LOC269529

Accession Numbers

Genbank: NM_001024142; MGI: 2686937

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

45034247-45084604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45048527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 536 (N536S)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

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

AlphaFold

Q7TQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000052236
AA Change: N536S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: N536S

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

unknown
Transcript: ENSMUST00000140008
AA Change: N362S

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: N362S

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

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Fbxo10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Fbxo10	APN	4	45058684	missense	probably damaging	0.98
IGL02073:Fbxo10	APN	4	45046349	missense	possibly damaging	0.94
IGL02315:Fbxo10	APN	4	45062469	missense	probably benign	0.08
IGL02403:Fbxo10	APN	4	45062517	missense	probably benign	0.01
IGL02408:Fbxo10	APN	4	45058361	missense	possibly damaging	0.75
IGL02496:Fbxo10	APN	4	45043883	missense	probably damaging	1.00
IGL02583:Fbxo10	APN	4	45044754	missense	probably damaging	1.00
IGL02794:Fbxo10	APN	4	45041928	missense	probably benign	0.20
N/A - 287:Fbxo10	UTSW	4	45044708	splice site	probably benign
R1033:Fbxo10	UTSW	4	45062236	missense	probably damaging	1.00
R1102:Fbxo10	UTSW	4	45043672	missense	probably damaging	1.00
R1583:Fbxo10	UTSW	4	45062118	missense	probably damaging	1.00
R1586:Fbxo10	UTSW	4	45042036	missense	possibly damaging	0.82
R1789:Fbxo10	UTSW	4	45046389	missense	probably damaging	1.00
R2187:Fbxo10	UTSW	4	45058531	missense	probably benign	0.09
R2191:Fbxo10	UTSW	4	45044811	missense	probably damaging	1.00
R2377:Fbxo10	UTSW	4	45044719	missense	probably benign	0.18
R2425:Fbxo10	UTSW	4	45051642	missense	possibly damaging	0.60
R2495:Fbxo10	UTSW	4	45040545	missense	probably benign	0.00
R4105:Fbxo10	UTSW	4	45059054	missense	probably benign	0.01
R4472:Fbxo10	UTSW	4	45043693	missense	probably damaging	1.00
R4480:Fbxo10	UTSW	4	45048470	missense	probably damaging	1.00
R4985:Fbxo10	UTSW	4	45040692	missense	probably benign	0.33
R5193:Fbxo10	UTSW	4	45051573	nonsense	probably null
R5309:Fbxo10	UTSW	4	45042036	missense	possibly damaging	0.82
R5312:Fbxo10	UTSW	4	45042036	missense	possibly damaging	0.82
R5348:Fbxo10	UTSW	4	45058934	missense	probably damaging	1.00
R5694:Fbxo10	UTSW	4	45035970	missense	probably damaging	1.00
R5844:Fbxo10	UTSW	4	45058760	missense	probably benign	0.09
R5974:Fbxo10	UTSW	4	45040631	missense	probably benign	0.18
R5990:Fbxo10	UTSW	4	45061960	missense	probably damaging	1.00
R6197:Fbxo10	UTSW	4	45043857	missense	probably benign	0.03
R6359:Fbxo10	UTSW	4	45041796	missense	possibly damaging	0.93
R6808:Fbxo10	UTSW	4	45059035	missense	probably benign	0.00
R6873:Fbxo10	UTSW	4	45041787	missense	possibly damaging	0.94
R6921:Fbxo10	UTSW	4	45044849	missense	probably damaging	1.00
R7089:Fbxo10	UTSW	4	45062230	missense	possibly damaging	0.90
R7120:Fbxo10	UTSW	4	45040533	nonsense	probably null
R7498:Fbxo10	UTSW	4	45062194	missense	probably benign	0.04
R7872:Fbxo10	UTSW	4	45051699	missense	not run
R8022:Fbxo10	UTSW	4	45062062	missense	possibly damaging	0.93
R8161:Fbxo10	UTSW	4	45044793	missense	probably damaging	1.00
R8416:Fbxo10	UTSW	4	45058942	missense	possibly damaging	0.83
R8419:Fbxo10	UTSW	4	45041809	missense	possibly damaging	0.72
R8744:Fbxo10	UTSW	4	45043880	missense	probably benign
R8798:Fbxo10	UTSW	4	45051605	missense	possibly damaging	0.47
R8887:Fbxo10	UTSW	4	45058887	missense	probably benign
R9273:Fbxo10	UTSW	4	45062178	missense	probably benign
R9548:Fbxo10	UTSW	4	45058970	missense	probably damaging	1.00

Posted On

2015-04-16