Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Fbxo10'

295850

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 #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

45034247-45084604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45043883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 647 (W647R)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

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

AlphaFold

Q7TQF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052236
AA Change: W647R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: W647R

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: W473R

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: W473R

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	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
IGL02097:Fbxo10	APN	4	45048527	missense	probably benign	0.24
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
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