Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02864:Fbxw10'

362274

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: 0.060) question?

Stock #

IGL02864

Quality Score

Status

Chromosome

Chromosomal Location

62737895-62768291 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62764349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 672 (G672D)

Ref Sequence

ENSEMBL: ENSMUSP00000135870 (fasta)

Gene Model

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

AlphaFold

Q5SUS0

Predicted Effect

probably benign
Transcript: ENSMUST00000036085
AA Change: G682D

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: G682D

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

possibly damaging
Transcript: ENSMUST00000150989
AA Change: G672D

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: G672D

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: G672D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: G672D

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,937,080 (GRCm39)	R347G	probably damaging	Het
Actl11	G	A	9: 107,806,186 (GRCm39)	A170T	probably benign	Het
Alpk2	T	C	18: 65,440,670 (GRCm39)	D241G	probably benign	Het
Arap2	A	T	5: 62,835,308 (GRCm39)	W745R	probably damaging	Het
Arhgef7	G	A	8: 11,865,247 (GRCm39)	V401I	possibly damaging	Het
Cacna1d	A	G	14: 29,773,663 (GRCm39)	V1709A	probably benign	Het
Ccl20	T	C	1: 83,095,799 (GRCm39)		probably null	Het
Cd209d	C	T	8: 3,927,122 (GRCm39)	V48I	probably benign	Het
Cttnbp2	T	C	6: 18,374,548 (GRCm39)	N1559S	probably benign	Het
Dnah9	T	C	11: 65,951,829 (GRCm39)	Y1890C	probably damaging	Het
Dsel	A	T	1: 111,786,944 (GRCm39)	M1197K	probably damaging	Het
Dtl	A	T	1: 191,288,938 (GRCm39)	S259T	probably benign	Het
Fhod1	C	T	8: 106,063,796 (GRCm39)		probably benign	Het
Gstk1	A	G	6: 42,224,687 (GRCm39)	Y135C	possibly damaging	Het
Gtpbp2	G	A	17: 46,476,520 (GRCm39)	C282Y	probably benign	Het
Hapln3	A	T	7: 78,767,812 (GRCm39)	W113R	probably benign	Het
Ifng	A	G	10: 118,278,561 (GRCm39)	Y74C	probably damaging	Het
Kyat1	C	A	2: 30,082,089 (GRCm39)		probably benign	Het
Las1l	A	T	X: 94,991,446 (GRCm39)	D308E	possibly damaging	Het
Mdh1b	T	A	1: 63,760,762 (GRCm39)	T100S	probably benign	Het
Nrap	A	T	19: 56,338,806 (GRCm39)	M810K	probably damaging	Het
Otof	T	C	5: 30,543,685 (GRCm39)	D593G	probably damaging	Het
Pnma5	A	T	X: 72,079,457 (GRCm39)	D408E	probably benign	Het
Pramel46	G	T	5: 95,418,543 (GRCm39)	A151E	possibly damaging	Het
Psen2	T	C	1: 180,073,268 (GRCm39)	T18A	probably benign	Het
Ptk7	A	T	17: 46,883,659 (GRCm39)	V802E	probably damaging	Het
Setd1b	G	A	5: 123,297,002 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,720,141 (GRCm39)	N132S	possibly damaging	Het
Spag9	A	G	11: 93,997,487 (GRCm39)	H675R	probably damaging	Het
Tpra1	C	A	6: 88,888,868 (GRCm39)	P350H	probably damaging	Het
Trim43a	C	T	9: 88,470,165 (GRCm39)	R324C	probably benign	Het
Ttn	T	C	2: 76,566,675 (GRCm39)	I28073V	probably benign	Het
Ttn	G	T	2: 76,767,095 (GRCm39)	H3023Q	probably benign	Het
Vmn1r21	A	G	6: 57,820,661 (GRCm39)	V261A	probably benign	Het
Vwa5b1	G	A	4: 138,336,286 (GRCm39)	P103S	probably benign	Het
Wars1	A	G	12: 108,848,791 (GRCm39)	M52T	probably benign	Het
Zcchc2	C	T	1: 105,943,814 (GRCm39)	H460Y	probably damaging	Het
Zscan12	G	T	13: 21,552,730 (GRCm39)	V185F	probably benign	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
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

2015-12-18