Mutagenetix > Incidental Mutation

Incidental Mutation 'R0416:Fbxw5'

40298

Institutional Source

Beutler Lab

Gene Symbol

Fbxw5

Ensembl Gene

ENSMUSG00000015095

Gene Name

F-box and WD-40 domain protein 5

Synonyms

Fbw5

MMRRC Submission

038618-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.454) question?

Stock #

R0416 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

25390762-25395482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25393251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 214 (S214F)

Ref Sequence

ENSEMBL: ENSMUSP00000015239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000040042] [ENSMUST00000124375]

AlphaFold

Q9QXW2

Predicted Effect

probably benign
Transcript: ENSMUST00000015227

SMART Domains

Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	14	152	3.3e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000015239
AA Change: S214F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: S214F

Domain	Start	End	E-Value	Type
FBOX	9	49	7.7e-6	SMART
WD40	81	120	3.11e-10	SMART
WD40	456	500	1.98e1	SMART
WD40	503	542	6.28e-6	SMART
low complexity region	553	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040042

SMART Domains

Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Lipocalin	48	186	3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124258

Predicted Effect

probably damaging
Transcript: ENSMUST00000124375
AA Change: S5F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: S5F

Domain	Start	End	E-Value	Type
SCOP:d1jjub_	116	246	1e-11	SMART
Blast:WD40	172	216	2e-25	BLAST
Blast:WD40	219	246	7e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Meta Mutation Damage Score

0.3621

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,162,779 (GRCm39)	I18V	probably benign	Het
Adamdec1	T	G	14: 68,806,161 (GRCm39)	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,565,646 (GRCm39)		probably null	Het
Ankrd44	T	G	1: 54,782,498 (GRCm39)	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,481,290 (GRCm39)	N86K	probably damaging	Het
Arih1	T	A	9: 59,333,993 (GRCm39)		probably benign	Het
Astn1	T	A	1: 158,337,461 (GRCm39)	I389N	probably damaging	Het
Brca2	T	C	5: 150,492,857 (GRCm39)	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 29,822,645 (GRCm39)		probably benign	Het
Ccl7	C	A	11: 81,936,692 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,486 (GRCm39)	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,197,641 (GRCm39)		probably benign	Het
Cep89	T	A	7: 35,115,827 (GRCm39)		probably benign	Het
Cmya5	T	G	13: 93,226,364 (GRCm39)	N2908T	probably benign	Het
Coil	T	C	11: 88,872,812 (GRCm39)	L391S	possibly damaging	Het
Cpd	C	T	11: 76,676,030 (GRCm39)	V1208I	probably benign	Het
Ddx19a	T	C	8: 111,705,689 (GRCm39)	D254G	probably damaging	Het
Desi2	T	A	1: 178,083,887 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,874,793 (GRCm39)	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,084,642 (GRCm39)	L53H	probably damaging	Het
Etv2	T	C	7: 30,334,058 (GRCm39)	Y225C	probably benign	Het
F10	G	A	8: 13,105,448 (GRCm39)	A338T	probably damaging	Het
Fam228b	T	A	12: 4,812,382 (GRCm39)	D132V	probably damaging	Het
Fat2	T	A	11: 55,174,960 (GRCm39)	I1918F	possibly damaging	Het
Glyat	G	A	19: 12,628,817 (GRCm39)	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,395,182 (GRCm39)		noncoding transcript	Het
Ino80d	G	T	1: 63,125,435 (GRCm39)	T9K	possibly damaging	Het
Lifr	A	T	15: 7,196,395 (GRCm39)	D193V	probably damaging	Het
Lrp12	G	T	15: 39,742,307 (GRCm39)		probably benign	Het
Lrp3	A	G	7: 34,901,778 (GRCm39)	V701A	probably benign	Het
Mfsd11	T	A	11: 116,756,708 (GRCm39)		probably benign	Het
Mrto4	A	T	4: 139,077,043 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,568,708 (GRCm39)	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,827,976 (GRCm39)	D168G	probably damaging	Het
Myo15a	T	A	11: 60,402,000 (GRCm39)	V3099E	probably damaging	Het
Myrf	T	C	19: 10,193,176 (GRCm39)		probably null	Het
Nadk	C	A	4: 155,672,256 (GRCm39)		probably benign	Het
Nav1	T	C	1: 135,398,864 (GRCm39)	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,728,732 (GRCm39)	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,446,750 (GRCm39)		probably benign	Het
Nlrx1	T	G	9: 44,174,211 (GRCm39)	D330A	probably benign	Het
Or2a56	G	A	6: 42,932,504 (GRCm39)	C24Y	probably benign	Het
Or2t49	T	C	11: 58,393,222 (GRCm39)	I53M	unknown	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pcnx1	A	T	12: 82,021,240 (GRCm39)	I1410F	probably benign	Het
Piezo2	G	A	18: 63,157,562 (GRCm39)	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,473,436 (GRCm39)	K358*	probably null	Het
Polg	T	C	7: 79,101,988 (GRCm39)		probably benign	Het
Prr14l	T	A	5: 32,986,061 (GRCm39)	I1145F	probably benign	Het
Psmb1	C	T	17: 15,714,781 (GRCm39)	V39I	probably benign	Het
Ptk6	T	C	2: 180,844,101 (GRCm39)	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,316,062 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,694,029 (GRCm39)	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 106,977,116 (GRCm39)	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Sik2	A	T	9: 50,906,932 (GRCm39)	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,641,838 (GRCm39)	P495S	probably benign	Het
Smg1	A	T	7: 117,783,684 (GRCm39)		probably benign	Het
Stk3	T	A	15: 35,114,778 (GRCm39)	I45L	probably benign	Het
Tapbp	A	G	17: 34,144,392 (GRCm39)	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,113,051 (GRCm39)	K410E	probably damaging	Het
Trim30b	A	T	7: 104,012,973 (GRCm39)	M152K	probably benign	Het
Trpm6	G	T	19: 18,760,389 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,742,743 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,367,660 (GRCm39)	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,661,664 (GRCm39)	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,154,200 (GRCm39)	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,106,503 (GRCm39)	H198L	probably damaging	Het
Zmym1	A	G	4: 126,952,613 (GRCm39)	L56P	probably benign	Het

Other mutations in Fbxw5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Fbxw5	APN	2	25,393,453 (GRCm39)	missense	probably damaging	0.99
IGL02162:Fbxw5	APN	2	25,393,283 (GRCm39)	missense	probably damaging	0.96
IGL02261:Fbxw5	APN	2	25,393,746 (GRCm39)	missense	probably benign	0.01
IGL02298:Fbxw5	APN	2	25,394,456 (GRCm39)	nonsense	probably null
IGL02822:Fbxw5	APN	2	25,393,022 (GRCm39)	missense	probably benign	0.06
R0423:Fbxw5	UTSW	2	25,394,538 (GRCm39)	missense	possibly damaging	0.90
R0616:Fbxw5	UTSW	2	25,392,517 (GRCm39)	missense	probably damaging	1.00
R0730:Fbxw5	UTSW	2	25,394,630 (GRCm39)	missense	possibly damaging	0.49
R1660:Fbxw5	UTSW	2	25,393,286 (GRCm39)	critical splice donor site	probably null
R1697:Fbxw5	UTSW	2	25,392,473 (GRCm39)	missense	possibly damaging	0.88
R1737:Fbxw5	UTSW	2	25,393,596 (GRCm39)	missense	probably benign	0.01
R2030:Fbxw5	UTSW	2	25,394,810 (GRCm39)	missense	probably damaging	1.00
R2274:Fbxw5	UTSW	2	25,394,773 (GRCm39)	nonsense	probably null
R2406:Fbxw5	UTSW	2	25,394,195 (GRCm39)	missense	probably damaging	1.00
R3815:Fbxw5	UTSW	2	25,393,576 (GRCm39)	missense	possibly damaging	0.62
R4082:Fbxw5	UTSW	2	25,394,643 (GRCm39)	critical splice donor site	probably null
R4249:Fbxw5	UTSW	2	25,393,472 (GRCm39)	missense	probably damaging	0.98
R6170:Fbxw5	UTSW	2	25,393,615 (GRCm39)	missense	possibly damaging	0.96
R6502:Fbxw5	UTSW	2	25,392,448 (GRCm39)	missense	possibly damaging	0.68
R7826:Fbxw5	UTSW	2	25,392,561 (GRCm39)	nonsense	probably null
R9658:Fbxw5	UTSW	2	25,393,870 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGTTTTCCCAGTTCAACCAG -3'
(R):5'- TATCAAAGCGGCTACAGTCAGCCAC -3'

Sequencing Primer
(F):5'- GTTCAACCAGGATGACTCACTG -3'
(R):5'- TCTGGATCTTAAAGAGCCGC -3'

Posted On

2013-05-23