Mutagenetix > Incidental Mutations

Incidental Mutation 'R0196:Fbxw10'

23451

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

038455-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62847069-62877465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62877244 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 974 (F974I)

Ref Sequence

ENSEMBL: ENSMUSP00000046156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014321] [ENSMUST00000036085] [ENSMUST00000150989] [ENSMUST00000176577] [ENSMUST00000177336]

Predicted Effect

probably benign
Transcript: ENSMUST00000014321

SMART Domains

Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177

Domain	Start	End	E-Value	Type
Pfam:DUF846	32	174	9.5e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036085
AA Change: F974I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: F974I

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

noncoding transcript
Transcript: ENSMUST00000127646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128698

Predicted Effect

probably benign
Transcript: ENSMUST00000150989
AA Change: F964I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: F964I

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

noncoding transcript
Transcript: ENSMUST00000154176

Predicted Effect

probably benign
Transcript: ENSMUST00000176577
AA Change: F969I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: F969I

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 benign
Transcript: ENSMUST00000177336

SMART Domains

Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,616,247		probably benign	Het
Aass	G	A	6: 23,109,520	P317L	probably damaging	Het
Abca12	T	A	1: 71,259,813	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,508	I46T	probably benign	Het
Adipoq	T	G	16: 23,146,643		probably null	Het
Amy1	A	T	3: 113,569,421	D92E	probably benign	Het
Asb15	G	A	6: 24,564,393	R282Q	probably damaging	Het
Bag6	G	C	17: 35,144,263	G693A	probably damaging	Het
Birc6	T	C	17: 74,580,287	I870T	possibly damaging	Het
Cand2	A	G	6: 115,789,502	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 122,633,337	Q525R	possibly damaging	Het
Ccdc94	C	A	17: 55,964,653	D191E	probably damaging	Het
Cd4	T	C	6: 124,867,806	R339G	probably damaging	Het
Cdh8	A	G	8: 99,190,434	S350P	probably damaging	Het
Cep295	A	T	9: 15,338,213	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,285,422	S279T	probably benign	Het
Clnk	T	A	5: 38,769,939	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,224,266	T64S	probably benign	Het
Crtc1	T	C	8: 70,386,221	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,012,356	I363S	probably damaging	Het
Dnah10	A	T	5: 124,834,075	I4519F	possibly damaging	Het
Dner	T	A	1: 84,370,832	I716F	probably damaging	Het
Dsel	T	G	1: 111,861,603	T401P	possibly damaging	Het
Egfr	A	G	11: 16,911,746	D1175G	probably benign	Het
Ephb3	A	T	16: 21,218,054	N343I	probably damaging	Het
Gfi1b	T	C	2: 28,613,774	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175	L6H	probably benign	Het
Grb10	A	C	11: 11,945,583	V247G	probably damaging	Het
Gstp2	A	T	19: 4,040,514		probably null	Het
Hars2	C	T	18: 36,789,204	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,221	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,734,245	T107I	possibly damaging	Het
Itga8	A	G	2: 12,204,729		probably null	Het
Klhl25	T	C	7: 75,865,702	S119P	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,606,770	V137A	probably benign	Het
Macrod2	A	T	2: 142,176,625	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,668,201	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,027,996	K82M	probably benign	Het
Mpzl3	A	G	9: 45,062,160	T66A	probably damaging	Het
Msh6	G	A	17: 87,980,360	V143I	possibly damaging	Het
Mug1	G	A	6: 121,838,725		probably null	Het
Ncr1	G	T	7: 4,340,973	C153F	probably damaging	Het
Nf1	T	A	11: 79,468,769	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,578,272	V786D	probably damaging	Het
Nisch	T	C	14: 31,203,394		probably benign	Het
Nwd2	T	A	5: 63,806,351	Y1093N	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr1352	C	T	10: 78,984,189	T133I	possibly damaging	Het
Olfr392	A	T	11: 73,814,905	M59K	probably damaging	Het
Oxa1l	T	C	14: 54,363,487	I139T	probably damaging	Het
P3h3	T	A	6: 124,845,272	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,756,698		probably null	Het
Pcnp	C	T	16: 56,024,533		probably benign	Het
Pdzd8	G	T	19: 59,301,131	D612E	probably benign	Het
Pi4kb	T	C	3: 94,998,950	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,256,072	V1454G	possibly damaging	Het
Podn	T	C	4: 108,021,498	N246D	probably damaging	Het
Prg4	T	C	1: 150,454,492		probably benign	Het
R3hdm2	T	C	10: 127,484,521	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,508,149	E231V	possibly damaging	Het
Slc16a10	C	T	10: 40,056,615	E317K	probably benign	Het
Slc34a1	A	T	13: 55,412,265	I435F	probably damaging	Het
Snx19	A	G	9: 30,433,387	D629G	probably damaging	Het
Tomm70a	T	C	16: 57,146,100	I472T	probably benign	Het
Trp53	A	G	11: 69,588,680	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,809,254		probably benign	Het
Ugt1a1	C	T	1: 88,212,555	A185V	possibly damaging	Het
Usp28	A	G	9: 49,028,278	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,076,084	T98I	probably damaging	Het
Vmn2r121	G	T	X: 124,132,182	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,394,573	N852D	probably benign	Het
Xrn2	T	A	2: 147,047,660	D654E	probably damaging	Het
Zfp335	C	G	2: 164,896,145	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,115,391	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,464,226	T350A	probably 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	splice site	probably null
R0180:Fbxw10	UTSW	11	62853096	missense	probably benign	0.09
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
R4869:Fbxw10	UTSW	11	62862731	missense	probably damaging	0.98
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
R7943:Fbxw10	UTSW	11	62850661	nonsense	probably null
R8003:Fbxw10	UTSW	11	62857761	missense	possibly damaging	0.53
R8323:Fbxw10	UTSW	11	62876680	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CTTAAGGGGTGACGAGCACTTGAC -3'
(R):5'- TGCTGCTGTAATTTCTCAAGCCTGG -3'

Sequencing Primer
(F):5'- TTGATGGGACAATGCGCC -3'
(R):5'- CTCAAGCCTGGTTTAGATAAACAC -3'

Posted On

2013-04-16