Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Fbxw10'

719256

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62737895-62768291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62765945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 738 (D738E)

Ref Sequence

ENSEMBL: ENSMUSP00000135870 (fasta)

Gene Model

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

AlphaFold

Q5SUS0

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: D743E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: D743E

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 benign
Transcript: ENSMUST00000150989
AA Change: D733E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: D733E

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

possibly damaging
Transcript: ENSMUST00000176577
AA Change: D738E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: D738E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,230,393 (GRCm39)	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,616,237 (GRCm39)	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,172,026 (GRCm39)	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,617,551 (GRCm39)	P109S	probably damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Capns1	C	T	7: 29,891,612 (GRCm39)	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,455,994 (GRCm39)	V341I	possibly damaging	Het
Cd36	T	C	5: 18,002,033 (GRCm39)	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Ckap2l	G	A	2: 129,111,161 (GRCm39)	Q679*	probably null	Het
Clec4g	T	A	8: 3,768,565 (GRCm39)	N93I	probably benign	Het
Cntnap2	T	A	6: 45,992,165 (GRCm39)	L364Q	probably damaging	Het
Cul9	A	G	17: 46,841,026 (GRCm39)	M748T	probably benign	Het
Dnah11	A	T	12: 118,150,711 (GRCm39)	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,642,260 (GRCm39)	Y61N	probably benign	Het
Dock6	A	T	9: 21,713,802 (GRCm39)	Y1909*	probably null	Het
Dock8	T	A	19: 25,165,739 (GRCm39)	D1874E	probably benign	Het
Dpm1	A	G	2: 168,072,210 (GRCm39)	S22P	probably benign	Het
Dysf	T	C	6: 84,128,885 (GRCm39)	L1385P	probably damaging	Het
Egf	T	C	3: 129,491,421 (GRCm39)	T859A	probably benign	Het
Eif2b1	A	T	5: 124,711,867 (GRCm39)	S162T	probably benign	Het
Emilin1	T	C	5: 31,075,484 (GRCm39)	L575P	probably damaging	Het
Erp27	T	A	6: 136,886,550 (GRCm39)	Q161L	probably benign	Het
Fcgbp	T	G	7: 27,790,937 (GRCm39)	C733G	probably damaging	Het
Fgb	T	A	3: 82,957,122 (GRCm39)		probably benign	Het
Gata3os	A	T	2: 9,887,634 (GRCm39)	T12S	unknown	Het
Got1l1	G	T	8: 27,688,503 (GRCm39)	Q283K	probably benign	Het
Grk2	G	A	19: 4,340,871 (GRCm39)	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,211,334 (GRCm39)	D194G	probably benign	Het
Ipcef1	G	A	10: 6,840,620 (GRCm39)	T363I	probably damaging	Het
Itga10	C	A	3: 96,564,273 (GRCm39)	T922N	probably damaging	Het
Itgad	T	C	7: 127,777,552 (GRCm39)	I144T	probably benign	Het
Kat6b	C	A	14: 21,567,564 (GRCm39)	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,088,383 (GRCm39)	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,486,355 (GRCm39)	S4733G	probably damaging	Het
Lrig3	A	G	10: 125,850,736 (GRCm39)	I1101V	probably benign	Het
Lrp1	T	A	10: 127,431,229 (GRCm39)	N311I	probably damaging	Het
Man2a1	A	T	17: 64,958,310 (GRCm39)	K275I	probably benign	Het
Map3k10	T	A	7: 27,364,434 (GRCm39)	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869 (GRCm39)	R408W	probably damaging	Het
Mast1	A	G	8: 85,647,805 (GRCm39)	M523T	probably damaging	Het
Mast4	T	C	13: 102,873,593 (GRCm39)	H1925R	probably benign	Het
Med12l	C	T	3: 58,984,207 (GRCm39)	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,333,237 (GRCm39)	K65E	probably damaging	Het
Mical1	T	C	10: 41,358,602 (GRCm39)	S507P	probably benign	Het
Miga2	T	C	2: 30,268,400 (GRCm39)	V433A	unknown	Het
Mpdz	T	C	4: 81,274,653 (GRCm39)	T848A	probably benign	Het
Mycn	A	G	12: 12,989,778 (GRCm39)	V206A	probably benign	Het
Ndst1	G	A	18: 60,838,220 (GRCm39)	Q342*	probably null	Het
Nectin1	A	G	9: 43,702,369 (GRCm39)	M39V	probably benign	Het
Nectin4	A	T	1: 171,210,209 (GRCm39)	R234*	probably null	Het
Ngb	C	G	12: 87,145,317 (GRCm39)	V113L	possibly damaging	Het
Nphp3	T	A	9: 103,913,337 (GRCm39)	Y990N	probably damaging	Het
Nrdc	T	C	4: 108,915,833 (GRCm39)		probably null	Het
Or10a2	A	T	7: 106,673,739 (GRCm39)	K235*	probably null	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or5p60	T	A	7: 107,723,801 (GRCm39)	Y223F	probably benign	Het
Osbpl6	A	G	2: 76,415,603 (GRCm39)	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,855,882 (GRCm39)	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,161,800 (GRCm39)	D164G	probably damaging	Het
Pde4d	T	A	13: 110,071,915 (GRCm39)	I303N	probably damaging	Het
Pdf	T	A	8: 107,774,972 (GRCm39)	M87L	probably benign	Het
Pigb	A	G	9: 72,941,840 (GRCm39)	S140P	probably damaging	Het
Plch1	T	A	3: 63,758,549 (GRCm39)		probably benign	Het
Plxna1	G	T	6: 89,319,633 (GRCm39)	D557E	probably benign	Het
Polr2e	C	T	10: 79,872,792 (GRCm39)	V149M	probably benign	Het
Polr3a	A	T	14: 24,503,313 (GRCm39)	C1174S	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Psmd2	T	A	16: 20,474,369 (GRCm39)	S308R	probably benign	Het
Ptger1	T	A	8: 84,396,002 (GRCm39)	V353E	probably damaging	Het
Ptprc	A	G	1: 137,996,111 (GRCm39)	M940T	probably benign	Het
Pus7l	T	C	15: 94,425,781 (GRCm39)	N540S	probably damaging	Het
Rap1gds1	T	A	3: 138,756,317 (GRCm39)	I13L	probably benign	Het
Rasl10b	A	T	11: 83,303,590 (GRCm39)	N49I	probably damaging	Het
Rftn1	A	T	17: 50,301,237 (GRCm39)	N537K	probably benign	Het
Rnase4	A	G	14: 51,342,645 (GRCm39)	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,338,302 (GRCm39)	N26K	probably benign	Het
Rnf31	G	A	14: 55,836,269 (GRCm39)		probably null	Het
Rpusd3	C	G	6: 113,393,200 (GRCm39)	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,664,270 (GRCm39)	V1694L	probably benign	Het
Sanbr	T	C	11: 23,559,098 (GRCm39)	Y372C	probably damaging	Het
Sephs2	T	C	7: 126,872,346 (GRCm39)	D249G	probably damaging	Het
Serpina10	A	G	12: 103,583,217 (GRCm39)	I409T	probably damaging	Het
Serpina5	C	T	12: 104,069,403 (GRCm39)	A205V	probably damaging	Het
Sfr1	T	A	19: 47,723,453 (GRCm39)	V319E	probably damaging	Het
Skil	T	A	3: 31,171,639 (GRCm39)	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,049,954 (GRCm39)	T154A	probably benign	Het
Slc27a2	T	A	2: 126,429,846 (GRCm39)	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,726,808 (GRCm39)	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,344,443 (GRCm39)	I144M	probably benign	Het
Stat5a	T	A	11: 100,771,161 (GRCm39)	V580E		Het
Tnk1	C	T	11: 69,746,011 (GRCm39)	D305N	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Trav12-2	A	G	14: 53,854,085 (GRCm39)	N20D	probably benign	Het
Trav16	T	A	14: 53,981,046 (GRCm39)	N78K	probably damaging	Het
Trf	C	T	9: 103,104,130 (GRCm39)	A78T	probably damaging	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Vmn2r67	T	A	7: 84,785,834 (GRCm39)	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,477,261 (GRCm39)	F383L	probably benign	Het
Vwa2	T	C	19: 56,895,208 (GRCm39)	S461P	probably benign	Het
Zfp991	G	A	4: 147,264,327 (GRCm39)	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,134,440 (GRCm39)	F15S	probably damaging	Het

Other mutations in Fbxw10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Fbxw10	APN	11	62,764,327 (GRCm39)	missense	probably damaging	1.00
IGL01552:Fbxw10	APN	11	62,748,510 (GRCm39)	critical splice acceptor site	probably null
IGL01625:Fbxw10	APN	11	62,750,853 (GRCm39)	missense	probably damaging	1.00
IGL01960:Fbxw10	APN	11	62,767,582 (GRCm39)	missense	probably damaging	1.00
IGL02457:Fbxw10	APN	11	62,765,808 (GRCm39)	missense	probably damaging	1.00
IGL02475:Fbxw10	APN	11	62,748,561 (GRCm39)	missense	possibly damaging	0.94
IGL02864:Fbxw10	APN	11	62,764,349 (GRCm39)	missense	probably damaging	1.00
R0083:Fbxw10	UTSW	11	62,767,887 (GRCm39)	missense	probably benign	0.00
R0108:Fbxw10	UTSW	11	62,767,887 (GRCm39)	missense	probably benign	0.00
R0147:Fbxw10	UTSW	11	62,738,307 (GRCm39)	splice site	probably null
R0180:Fbxw10	UTSW	11	62,743,922 (GRCm39)	missense	probably benign	0.09
R0196:Fbxw10	UTSW	11	62,768,070 (GRCm39)	missense	probably benign	0.01
R0454:Fbxw10	UTSW	11	62,767,564 (GRCm39)	missense	possibly damaging	0.53
R0529:Fbxw10	UTSW	11	62,750,671 (GRCm39)	missense	probably damaging	1.00
R0791:Fbxw10	UTSW	11	62,738,282 (GRCm39)	missense	probably benign	0.18
R0927:Fbxw10	UTSW	11	62,767,770 (GRCm39)	missense	probably damaging	0.98
R1026:Fbxw10	UTSW	11	62,765,997 (GRCm39)	missense	probably benign
R1448:Fbxw10	UTSW	11	62,738,418 (GRCm39)	missense	possibly damaging	0.74
R1468:Fbxw10	UTSW	11	62,753,464 (GRCm39)	missense	probably damaging	1.00
R1468:Fbxw10	UTSW	11	62,753,464 (GRCm39)	missense	probably damaging	1.00
R1689:Fbxw10	UTSW	11	62,750,862 (GRCm39)	missense	probably damaging	1.00
R1785:Fbxw10	UTSW	11	62,750,683 (GRCm39)	missense	probably damaging	0.99
R2130:Fbxw10	UTSW	11	62,750,683 (GRCm39)	missense	probably damaging	0.99
R2132:Fbxw10	UTSW	11	62,750,683 (GRCm39)	missense	probably damaging	0.99
R2211:Fbxw10	UTSW	11	62,758,361 (GRCm39)	missense	probably damaging	0.99
R3078:Fbxw10	UTSW	11	62,758,339 (GRCm39)	splice site	probably benign
R3700:Fbxw10	UTSW	11	62,759,983 (GRCm39)	splice site	probably null
R3932:Fbxw10	UTSW	11	62,759,983 (GRCm39)	splice site	probably benign
R4843:Fbxw10	UTSW	11	62,738,151 (GRCm39)	missense	possibly damaging	0.95
R4869:Fbxw10	UTSW	11	62,753,557 (GRCm39)	missense	probably damaging	0.98
R4879:Fbxw10	UTSW	11	62,738,573 (GRCm39)	missense	probably damaging	0.99
R4980:Fbxw10	UTSW	11	62,738,583 (GRCm39)	missense	possibly damaging	0.94
R5417:Fbxw10	UTSW	11	62,767,990 (GRCm39)	missense	possibly damaging	0.53
R5531:Fbxw10	UTSW	11	62,753,482 (GRCm39)	missense	probably damaging	1.00
R5877:Fbxw10	UTSW	11	62,748,542 (GRCm39)	missense	probably damaging	1.00
R6028:Fbxw10	UTSW	11	62,764,345 (GRCm39)	nonsense	probably null
R6616:Fbxw10	UTSW	11	62,743,850 (GRCm39)	missense	probably benign	0.14
R6870:Fbxw10	UTSW	11	62,746,193 (GRCm39)	missense	probably damaging	0.99
R6967:Fbxw10	UTSW	11	62,738,429 (GRCm39)	missense	possibly damaging	0.73
R7409:Fbxw10	UTSW	11	62,767,606 (GRCm39)	missense	possibly damaging	0.86
R7464:Fbxw10	UTSW	11	62,744,124 (GRCm39)	missense	probably benign	0.01
R7542:Fbxw10	UTSW	11	62,741,422 (GRCm39)	missense	probably benign	0.33
R7568:Fbxw10	UTSW	11	62,765,994 (GRCm39)	missense	probably benign
R7733:Fbxw10	UTSW	11	62,764,223 (GRCm39)	missense	unknown
R7793:Fbxw10	UTSW	11	62,738,213 (GRCm39)	missense	possibly damaging	0.96
R7943:Fbxw10	UTSW	11	62,741,487 (GRCm39)	nonsense	probably null
R8003:Fbxw10	UTSW	11	62,748,587 (GRCm39)	missense	possibly damaging	0.53
R8323:Fbxw10	UTSW	11	62,767,506 (GRCm39)	missense	probably benign	0.33
R8899:Fbxw10	UTSW	11	62,748,567 (GRCm39)	missense	probably damaging	0.98
R8904:Fbxw10	UTSW	11	62,765,831 (GRCm39)	nonsense	probably null
R9035:Fbxw10	UTSW	11	62,758,449 (GRCm39)	missense	possibly damaging	0.53
R9121:Fbxw10	UTSW	11	62,738,153 (GRCm39)	missense	possibly damaging	0.53
R9300:Fbxw10	UTSW	11	62,768,109 (GRCm39)	missense	probably benign	0.18
R9332:Fbxw10	UTSW	11	62,748,585 (GRCm39)	missense	probably benign	0.33
R9334:Fbxw10	UTSW	11	62,765,910 (GRCm39)	missense	possibly damaging	0.73
R9417:Fbxw10	UTSW	11	62,753,522 (GRCm39)	nonsense	probably null
R9476:Fbxw10	UTSW	11	62,743,814 (GRCm39)	missense	probably benign	0.00
R9510:Fbxw10	UTSW	11	62,743,814 (GRCm39)	missense	probably benign	0.00
R9520:Fbxw10	UTSW	11	62,750,842 (GRCm39)	missense	possibly damaging	0.52
R9547:Fbxw10	UTSW	11	62,767,647 (GRCm39)	missense	possibly damaging	0.86
R9602:Fbxw10	UTSW	11	62,750,782 (GRCm39)	missense	possibly damaging	0.71
Z1186:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1186:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1187:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1187:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1188:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1188:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1189:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1189:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1190:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1190:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1191:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1191:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign
Z1192:Fbxw10	UTSW	11	62,767,671 (GRCm39)	missense	probably benign
Z1192:Fbxw10	UTSW	11	62,738,118 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGCACTCTCTCATTTTGG -3'
(R):5'- ACTGTCATTTTCAGGTGCACATC -3'

Sequencing Primer
(F):5'- ACTCTCTCATTTTGGTTCCAGGATGG -3'
(R):5'- AGGTGCACATCTTCTCTCTCAG -3'

Posted On

2022-07-18