Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Fbxw10'

239394

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

040213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62847069-62877465 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62867535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 529 (T529A)

Ref Sequence

ENSEMBL: ENSMUSP00000135294 (fasta)

Gene Model

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

AlphaFold

Q5SUS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000036085
AA Change: T539A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: T539A

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: T529A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: T529A

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: T529A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: T529A

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: T529A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: T529A

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam149a	G	A	8: 45,341,009	T674I	probably damaging	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hic1	T	A	11: 75,169,384	R46W	possibly damaging	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nbr1	T	C	11: 101,567,264		probably null	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pcbp4	C	A	9: 106,460,734	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Spsb3	T	C	17: 24,890,937		probably null	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Ylpm1	A	T	12: 85,044,378	R1073*	probably null	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	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	splice site	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
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
R8899:Fbxw10	UTSW	11	62857741	missense	probably damaging	0.98
R8904:Fbxw10	UTSW	11	62875005	nonsense	probably null
R9035:Fbxw10	UTSW	11	62867623	missense	possibly damaging	0.53
R9121:Fbxw10	UTSW	11	62847327	missense	possibly damaging	0.53
R9300:Fbxw10	UTSW	11	62877283	missense	probably benign	0.18
R9332:Fbxw10	UTSW	11	62857759	missense	probably benign	0.33
R9334:Fbxw10	UTSW	11	62875084	missense	possibly damaging	0.73
R9417:Fbxw10	UTSW	11	62862696	nonsense	probably null
R9476:Fbxw10	UTSW	11	62852988	missense	probably benign	0.00
R9510:Fbxw10	UTSW	11	62852988	missense	probably benign	0.00
R9520:Fbxw10	UTSW	11	62860016	missense	possibly damaging	0.52
R9526:Fbxw10	UTSW	11	62875119	missense	possibly damaging	0.70
R9547:Fbxw10	UTSW	11	62876821	missense	possibly damaging	0.86
R9602:Fbxw10	UTSW	11	62859956	missense	possibly damaging	0.71
Z1186:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1186:Fbxw10	UTSW	11	62876845	missense	probably benign
Z1187:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1187:Fbxw10	UTSW	11	62876845	missense	probably benign
Z1188:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1188:Fbxw10	UTSW	11	62876845	missense	probably benign
Z1189:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1189:Fbxw10	UTSW	11	62876845	missense	probably benign
Z1190:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1190:Fbxw10	UTSW	11	62876845	missense	probably benign
Z1191:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1191:Fbxw10	UTSW	11	62876845	missense	probably benign
Z1192:Fbxw10	UTSW	11	62847292	missense	probably benign
Z1192:Fbxw10	UTSW	11	62876845	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAGGCAGAGTTCTAGGGTC -3'
(R):5'- AGGAGCAGACCTTCATGTCC -3'

Sequencing Primer
(F):5'- TCAGAGTGAGAGTCCTCTGC -3'
(R):5'- GAGCAGACCTTCATGTCCTTGTAAC -3'

Posted On

2014-10-15