Mutagenetix > Incidental Mutation

Incidental Mutation 'R2274:Fbxw5'

244942

Institutional Source

Beutler Lab

Gene Symbol

Fbxw5

Ensembl Gene

ENSMUSG00000015095

Gene Name

F-box and WD-40 domain protein 5

Synonyms

Fbw5

Accession Numbers

Essential gene?

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

Stock #

R2274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25390762-25395482 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 25394773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 222 (C222*)

Ref Sequence

ENSEMBL: ENSMUSP00000117676 (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 null
Transcript: ENSMUST00000015239
AA Change: C506*

SMART Domains

Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: C506*

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 null
Transcript: ENSMUST00000124375
AA Change: C222*

SMART Domains

Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: C222*

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: ENSMUST00000135511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Abcb10	G	T	8: 124,709,491 (GRCm39)	A21E	probably benign	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Aqp4	A	G	18: 15,526,537 (GRCm39)	S315P	probably benign	Het
Atp7b	T	C	8: 22,510,848 (GRCm39)	I433V	probably benign	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Car5a	C	T	8: 122,671,408 (GRCm39)		probably null	Het
Cdk11b	T	A	4: 155,732,051 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Egr4	A	T	6: 85,489,725 (GRCm39)	F112I	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat4	T	A	3: 39,050,048 (GRCm39)	V3970D	possibly damaging	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Ghr	A	G	15: 3,349,507 (GRCm39)	V557A	probably benign	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr155	A	G	2: 73,178,479 (GRCm39)		probably null	Het
Gucy2f	A	T	X: 140,899,269 (GRCm39)	M697K	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Irf8	A	G	8: 121,480,266 (GRCm39)	E168G	probably damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
L3hypdh	T	C	12: 72,131,632 (GRCm39)	Y100C	possibly damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mta1	C	T	12: 113,091,770 (GRCm39)	S291L	probably damaging	Het
Myh2	A	G	11: 67,081,184 (GRCm39)	K1267E	possibly damaging	Het
Nbea	A	T	3: 55,895,506 (GRCm39)		probably null	Het
Nexmif	T	G	X: 103,131,452 (GRCm39)	E155A	possibly damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nxph1	G	T	6: 9,247,746 (GRCm39)	C239F	probably damaging	Het
Odc1	A	G	12: 17,598,425 (GRCm39)	I189V	probably benign	Het
Or1n1	A	T	2: 36,750,113 (GRCm39)	N82K	probably damaging	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb15	T	C	18: 37,608,496 (GRCm39)	L576P	probably damaging	Het
Raph1	T	C	1: 60,537,659 (GRCm39)	D499G	probably damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rtl1	T	C	12: 109,561,101 (GRCm39)	E246G	unknown	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
St3gal6	T	A	16: 58,309,332 (GRCm39)	E34D	possibly damaging	Het
Tcstv3	C	T	13: 120,779,190 (GRCm39)	Q30*	probably null	Het
Tex16	T	A	X: 111,030,838 (GRCm39)	D1112E	probably damaging	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tmf1	T	A	6: 97,140,547 (GRCm39)	L776F	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn1r49	G	A	6: 90,049,126 (GRCm39)	T292I	probably benign	Het
Wdr19	T	A	5: 65,398,334 (GRCm39)	M853K	possibly damaging	Het
Zkscan8	C	T	13: 21,705,966 (GRCm39)	M265I	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
R0416:Fbxw5	UTSW	2	25,393,251 (GRCm39)	missense	probably damaging	1.00
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
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'- TCATCTTCTTGGATGTCAGCAG -3'
(R):5'- TCCCCAGTAGGTTCCAATGG -3'

Sequencing Primer
(F):5'- CAGCAGGGATTTTGTGGCCAG -3'
(R):5'- GGTTCCAATGGCTCAAATCACTG -3'

Posted On

2014-10-30