Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00941:Fbxw10'

28548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxw10

Ensembl Gene

ENSMUSG00000090173

Gene Name

F-box and WD-40 domain protein 10

Synonyms

SM2SH2, SM25H2, Fbw10

Accession Numbers

Essential gene?

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

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

62737895-62768291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62764327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 675 (V675M)

Ref Sequence

ENSEMBL: ENSMUSP00000046156 (fasta)

Gene Model

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

AlphaFold

Q5SUS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036085
AA Change: V675M

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

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: V675M

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

probably damaging
Transcript: ENSMUST00000150989
AA Change: V665M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: V665M

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: V665M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: V665M

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,536,104 (GRCm39)	I521S	probably damaging	Het
Ace	A	T	11: 105,870,376 (GRCm39)	K265I	probably benign	Het
Acss3	A	G	10: 106,889,187 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,153,082 (GRCm39)	Y215H	probably damaging	Het
Clk2	A	G	3: 89,082,729 (GRCm39)	M393V	probably damaging	Het
Cyc1	A	G	15: 76,229,365 (GRCm39)	I242V	probably benign	Het
Evpl	G	A	11: 116,118,727 (GRCm39)	L657F	probably benign	Het
Fgf21	A	G	7: 45,264,597 (GRCm39)	V45A	probably damaging	Het
Gm5134	T	C	10: 75,836,255 (GRCm39)	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,208,749 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna12	A	T	4: 88,521,551 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,389,856 (GRCm39)	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,307,794 (GRCm39)	V73I	probably benign	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Mical2	T	C	7: 111,920,652 (GRCm39)		probably benign	Het
Mllt1	A	T	17: 57,202,086 (GRCm39)	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,501,740 (GRCm39)	H141L	probably benign	Het
Septin4	G	T	11: 87,480,599 (GRCm39)	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,270,727 (GRCm39)	F550L	probably benign	Het
Ssb	T	A	2: 69,701,179 (GRCm39)		probably null	Het
Stk36	T	A	1: 74,663,093 (GRCm39)	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,471,808 (GRCm39)	A415T	probably benign	Het
Zfp839	C	A	12: 110,827,382 (GRCm39)	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,705,573 (GRCm39)	G95W	probably damaging	Het

Other mutations in Fbxw10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9526:Fbxw10	UTSW	11	62,765,945 (GRCm39)	missense	possibly damaging	0.70
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

Posted On

2013-04-17