Mutagenetix > Incidental Mutations

Incidental Mutation 'R4869:Fbxw10'

376436

Institutional Source

Beutler Lab

Gene Symbol

Fbxw10

Ensembl Gene

ENSMUSG00000090173

Gene Name

F-box and WD-40 domain protein 10

Synonyms

SM2SH2, SM25H2, Fbw10

MMRRC Submission

042479-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62847069-62877465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62862731 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 517 (A517E)

Ref Sequence

ENSEMBL: ENSMUSP00000135294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036085
AA Change: A527E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: A527E

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	6e-14	BLAST
Blast:WD40	416	453	2e-8	BLAST
WD40	457	496	1.78e-5	SMART
WD40	499	536	5.55e-7	SMART
WD40	539	575	2.84e-4	SMART
WD40	578	615	3.81e-5	SMART
WD40	620	656	6.9e-1	SMART
low complexity region	709	724	N/A	INTRINSIC
coiled coil region	964	992	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000150989
AA Change: A517E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: A517E

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	1e-13	BLAST
Blast:WD40	406	443	2e-8	BLAST
WD40	447	486	1.78e-5	SMART
WD40	489	526	5.55e-7	SMART
WD40	529	565	2.84e-4	SMART
WD40	568	605	3.81e-5	SMART
WD40	610	646	6.9e-1	SMART
low complexity region	699	714	N/A	INTRINSIC
coiled coil region	954	982	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176577
AA Change: A517E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: A517E

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	6e-14	BLAST
Blast:WD40	406	443	2e-8	BLAST
WD40	447	486	1.78e-5	SMART
WD40	489	526	5.55e-7	SMART
WD40	529	565	2.84e-4	SMART
WD40	568	605	3.81e-5	SMART
WD40	610	646	6.9e-1	SMART
low complexity region	704	719	N/A	INTRINSIC
coiled coil region	959	987	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177336
AA Change: A517E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: A517E

Domain	Start	End	E-Value	Type
low complexity region	262	274	N/A	INTRINSIC
Blast:FBOX	286	326	5e-14	BLAST
Blast:WD40	406	443	1e-8	BLAST
WD40	447	486	1.78e-5	SMART
WD40	489	526	5.55e-7	SMART
WD40	529	565	2.84e-4	SMART
WD40	568	605	3.81e-5	SMART
WD40	610	646	6.9e-1	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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 FBXW10, 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,254,205	K943N	probably damaging	Het
Abca13	G	A	11: 9,315,434		probably null	Het
Ankub1	A	G	3: 57,690,330	L73P	probably damaging	Het
Birc6	A	G	17: 74,586,012	I982V	probably benign	Het
Cabyr	G	T	18: 12,751,818	*454L	probably null	Het
Ccdc57	C	T	11: 120,903,518		probably null	Het
Cd209c	A	G	8: 3,944,077	F128L	probably benign	Het
Cdh23	A	T	10: 60,376,934	I1566N	probably damaging	Het
Cdon	T	C	9: 35,452,904	V106A	possibly damaging	Het
Cebpa	G	T	7: 35,119,821	G135C	probably damaging	Het
Cfap65	A	G	1: 74,919,261	S896P	probably benign	Het
Ciz1	T	C	2: 32,364,235	S63P	probably damaging	Het
Clybl	G	A	14: 122,384,206	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,952,994	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,428,673		probably null	Het
Cyp2d10	G	A	15: 82,403,766	R379C	probably benign	Het
Dab2ip	C	A	2: 35,720,037	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dock1	A	T	7: 134,734,071	I65F	probably damaging	Het
Ercc2	T	C	7: 19,386,807	V155A	probably damaging	Het
Exph5	A	C	9: 53,376,239	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,377,477	H250L	probably damaging	Het
Furin	A	T	7: 80,396,979	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,792,459		probably benign	Het
Gabrg2	A	T	11: 41,920,404	S305T	probably damaging	Het
Gas6	G	T	8: 13,475,086	S299R	possibly damaging	Het
Gga3	G	T	11: 115,586,285		probably benign	Het
Gle1	A	G	2: 29,936,020	E37G	possibly damaging	Het
Gm6614	T	C	6: 141,987,766	D431G	probably damaging	Het
Gm7964	A	G	7: 83,756,142	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204		probably null	Het
Grid2	G	T	6: 64,429,740	G695W	probably damaging	Het
H2-M10.6	A	T	17: 36,812,533	M40L	probably benign	Het
Hectd4	G	T	5: 121,322,672	V905L	possibly damaging	Het
Isyna1	C	A	8: 70,596,762	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,242,032	S933L	probably benign	Het
Knl1	T	C	2: 119,072,351	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,796,398	E351G	probably damaging	Het
Lipo4	C	T	19: 33,501,553		probably null	Het
Llgl1	T	A	11: 60,707,210	L360*	probably null	Het
Map2k5	G	A	9: 63,322,243	R169*	probably null	Het
Muc19	A	T	15: 91,897,716		noncoding transcript	Het
Muc4	G	A	16: 32,754,836		probably benign	Het
Myh4	A	G	11: 67,252,664	E1074G	probably damaging	Het
Naip5	C	T	13: 100,245,131	G210E	probably damaging	Het
Nalcn	A	G	14: 123,599,884	S23P	probably benign	Het
Nepro	T	A	16: 44,730,173	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,924,093	C704Y	probably damaging	Het
Notch1	A	G	2: 26,471,179	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,795,582	E133G	possibly damaging	Het
Parp9	T	C	16: 35,956,904	L406S	probably damaging	Het
Peak1	G	T	9: 56,227,592	A155D	probably benign	Het
Piezo1	G	A	8: 122,487,545	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,395,362	V587A	probably benign	Het
Pkn2	A	G	3: 142,803,618	Y722H	probably damaging	Het
Plch2	A	T	4: 154,989,428	I834K	probably benign	Het
Pld1	A	G	3: 28,109,802	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,050,386	S103G	probably benign	Het
Ppl	T	C	16: 5,104,889	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,309,845		probably benign	Het
Prr14l	A	G	5: 32,828,833	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,689,805	K83*	probably null	Het
Rai1	T	C	11: 60,186,762	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,851,109	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,215,021		probably benign	Het
Rif1	T	A	2: 52,093,611		probably benign	Het
Rnf141	A	G	7: 110,825,350	Y101H	probably damaging	Het
Rnf219	A	G	14: 104,478,816	I707T	probably damaging	Het
Rttn	T	A	18: 89,043,014	L1102*	probably null	Het
Sall4	G	A	2: 168,755,717	S401F	probably damaging	Het
Sec11c	T	C	18: 65,801,470	I36T	probably benign	Het
Sel1l	A	G	12: 91,814,054		probably benign	Het
Setd1a	T	C	7: 127,797,604		probably benign	Het
Sez6l2	C	T	7: 126,961,842	P433L	probably benign	Het
Sgf29	T	C	7: 126,649,375		probably benign	Het
Slc47a1	A	G	11: 61,362,694	V305A	probably benign	Het
Sun2	T	C	15: 79,728,386		probably benign	Het
Tecta	T	C	9: 42,375,534	S609G	probably benign	Het
Tex45	G	A	8: 3,487,148	S498N	probably damaging	Het
Tmprss6	T	A	15: 78,443,680		probably null	Het
Tns1	T	C	1: 73,952,615	H968R	probably benign	Het
Tomm34	G	A	2: 164,054,717	A270V	probably damaging	Het
Tpo	T	C	12: 30,103,365	K330R	probably benign	Het
Ttn	T	A	2: 76,712,493	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,680,434	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691	R147H	probably benign	Het
Vps13d	A	G	4: 145,128,042	L2272P	probably damaging	Het
Wdfy3	A	G	5: 101,894,921	L1988P	probably damaging	Het
Wwc2	A	G	8: 47,920,678	F51S	probably damaging	Het
Zfp454	C	T	11: 50,873,153	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,288,293	V473E	probably damaging	Het
Zfp959	A	T	17: 55,897,228	R85S	possibly damaging	Het

Other mutations in Fbxw10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Fbxw10	APN	11	62873501	missense	probably damaging	1.00
IGL01552:Fbxw10	APN	11	62857684	critical splice acceptor site	probably null
IGL01625:Fbxw10	APN	11	62860027	missense	probably damaging	1.00
IGL01960:Fbxw10	APN	11	62876756	missense	probably damaging	1.00
IGL02457:Fbxw10	APN	11	62874982	missense	probably damaging	1.00
IGL02475:Fbxw10	APN	11	62857735	missense	possibly damaging	0.94
IGL02864:Fbxw10	APN	11	62873523	missense	probably damaging	1.00
R0083:Fbxw10	UTSW	11	62877061	missense	probably benign	0.00
R0108:Fbxw10	UTSW	11	62877061	missense	probably benign	0.00
R0147:Fbxw10	UTSW	11	62847481	unclassified	probably null
R0180:Fbxw10	UTSW	11	62853096	missense	probably benign	0.09
R0196:Fbxw10	UTSW	11	62877244	missense	probably benign	0.01
R0454:Fbxw10	UTSW	11	62876738	missense	possibly damaging	0.53
R0529:Fbxw10	UTSW	11	62859845	missense	probably damaging	1.00
R0791:Fbxw10	UTSW	11	62847456	missense	probably benign	0.18
R0927:Fbxw10	UTSW	11	62876944	missense	probably damaging	0.98
R1026:Fbxw10	UTSW	11	62875171	missense	probably benign
R1448:Fbxw10	UTSW	11	62847592	missense	possibly damaging	0.74
R1468:Fbxw10	UTSW	11	62862638	missense	probably damaging	1.00
R1468:Fbxw10	UTSW	11	62862638	missense	probably damaging	1.00
R1689:Fbxw10	UTSW	11	62860036	missense	probably damaging	1.00
R1785:Fbxw10	UTSW	11	62859857	missense	probably damaging	0.99
R2130:Fbxw10	UTSW	11	62859857	missense	probably damaging	0.99
R2132:Fbxw10	UTSW	11	62859857	missense	probably damaging	0.99
R2211:Fbxw10	UTSW	11	62867535	missense	probably damaging	0.99
R3078:Fbxw10	UTSW	11	62867513	splice site	probably benign
R3700:Fbxw10	UTSW	11	62869157	splice site	probably null
R3932:Fbxw10	UTSW	11	62869157	splice site	probably benign
R4843:Fbxw10	UTSW	11	62847325	missense	possibly damaging	0.95
R4879:Fbxw10	UTSW	11	62847747	missense	probably damaging	0.99
R4980:Fbxw10	UTSW	11	62847757	missense	possibly damaging	0.94
R5417:Fbxw10	UTSW	11	62877164	missense	possibly damaging	0.53
R5531:Fbxw10	UTSW	11	62862656	missense	probably damaging	1.00
R5877:Fbxw10	UTSW	11	62857716	missense	probably damaging	1.00
R6028:Fbxw10	UTSW	11	62873519	nonsense	probably null
R6616:Fbxw10	UTSW	11	62853024	missense	probably benign	0.14
R6870:Fbxw10	UTSW	11	62855367	missense	probably damaging	0.99
R6967:Fbxw10	UTSW	11	62847603	missense	possibly damaging	0.73
R7409:Fbxw10	UTSW	11	62876780	missense	possibly damaging	0.86
R7464:Fbxw10	UTSW	11	62853298	missense	probably benign	0.01
R7542:Fbxw10	UTSW	11	62850596	missense	probably benign	0.33
R7568:Fbxw10	UTSW	11	62875168	missense	probably benign
R7733:Fbxw10	UTSW	11	62873397	missense	unknown
R7793:Fbxw10	UTSW	11	62847387	missense	possibly damaging	0.96
R8003:Fbxw10	UTSW	11	62857761	missense	not run

Predicted Primers

PCR Primer
(F):5'- GGAACCCTATATAGCAGGACCC -3'
(R):5'- ATTGTAGCTCTGACTGTGGCTAC -3'

Sequencing Primer
(F):5'- TATATAGCAGGACCCTCTGGACAGTC -3'
(R):5'- ATTCCCTAGGCAGGTGATTCTCAAG -3'

Posted On

2016-03-17