Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Fbxo10'

238087

Institutional Source

Beutler Lab

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

LOC269529, FBX10

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2191 (G1)

Quality Score

120

Status

Not validated

Chromosome

Chromosomal Location

45034248-45084604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 45044811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 608 (P608R)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

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

AlphaFold

Q7TQF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052236
AA Change: P608R

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

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: P608R

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: P434R

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: P434R

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	possibly damaging	Het

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
N/A - 287:Fbxo10	UTSW	4	45,044,708 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTCAGAACCCACTAGTCAGAGC -3'
(R):5'- AAAGCCAGTGGGTGAGCATC -3'

Sequencing Primer
(F):5'- TCAGAGCTGACACCTGGG -3'
(R):5'- TGAGCATCAGGGTGCTAGC -3'

Posted On

2014-10-02