Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Fbxo10'

201596

Institutional Source

Beutler Lab

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

FBX10, LOC269529

MMRRC Submission

039820-MU

Accession Numbers

Genbank: NM_001024142; MGI: 2686937

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45034247-45084604 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45046389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 574 (A574S)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

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

AlphaFold

Q7TQF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052236
AA Change: A574S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: A574S

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: A400S

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: A400S

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993		probably null	Het
Chrna5	T	C	9: 55,004,651	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921	G163R	probably damaging	Het
Col5a2	T	C	1: 45,394,776	Q759R	probably damaging	Het
Col5a2	A	G	1: 45,378,305		probably null	Het
Comp	A	G	8: 70,377,146	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985	Y414C	probably benign	Het
Fsip2	G	T	2: 82,977,562	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057		probably benign	Het
Grin3b	T	C	10: 79,973,408	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512		probably null	Het
Itgb8	T	C	12: 119,202,455	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074		probably benign	Het
L3mbtl1	A	G	2: 162,974,502	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Myo10	T	G	15: 25,726,525		probably null	Het
Myo1e	T	A	9: 70,338,784	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754	Y271N	probably damaging	Het
Polk	T	C	13: 96,496,632	E301G	probably damaging	Het
Prkdc	C	A	16: 15,739,524	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459		probably benign	Het
Spag17	T	A	3: 99,939,356	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488		probably benign	Het
Stil	T	A	4: 115,041,782	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246	Q478*	probably null	Het
Tg	A	T	15: 66,737,548	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435		probably null	Het
Zfp277	A	G	12: 40,364,085	F254L	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCTAATCACAGCAGCAGG -3'
(R):5'- GCTACTGGGAAGCTTACTAAGG -3'

Sequencing Primer
(F):5'- CTAATCACAGCAGCAGGTCTAGG -3'
(R):5'- CTTTGTAAGCCTGACAACCTGAG -3'

Posted On

2014-06-23