Mutagenetix > Incidental Mutation

Incidental Mutation 'R6170:Fbxw5'

490357

Institutional Source

Beutler Lab

Gene Symbol

Fbxw5

Ensembl Gene

ENSMUSG00000015095

Gene Name

F-box and WD-40 domain protein 5

Synonyms

Fbw5

MMRRC Submission

044431-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

R6170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25390762-25395482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25393615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 72 (D72G)

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

possibly damaging
Transcript: ENSMUST00000015239
AA Change: D281G

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095
AA Change: D281G

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

possibly damaging
Transcript: ENSMUST00000124375
AA Change: D72G

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

SMART Domains

Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095
AA Change: D72G

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: ENSMUST00000133255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150580

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

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
0610030E20Rik	T	A	6: 72,325,555 (GRCm39)	S90R	probably benign	Het
4930523C07Rik	C	A	1: 159,902,743 (GRCm39)	N4K	possibly damaging	Het
Adgrl2	A	G	3: 148,528,645 (GRCm39)	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,652,723 (GRCm39)	D94G	possibly damaging	Het
Anln	T	C	9: 22,279,793 (GRCm39)	N466D	probably benign	Het
Atp9b	T	A	18: 80,920,562 (GRCm39)	I231L	probably benign	Het
Bpifb3	T	A	2: 153,761,557 (GRCm39)	M2K	unknown	Het
Btbd3	T	C	2: 138,120,862 (GRCm39)	L12P	probably damaging	Het
Btnl6	T	A	17: 34,734,480 (GRCm39)	Y94F	probably damaging	Het
Cab39	T	A	1: 85,746,176 (GRCm39)	L19*	probably null	Het
Cacna2d2	A	G	9: 107,404,533 (GRCm39)	D1114G	probably damaging	Het
Cdcp3	A	T	7: 130,776,216 (GRCm39)		probably null	Het
Cdh11	A	G	8: 103,361,442 (GRCm39)	V632A	probably benign	Het
Cemip	T	G	7: 83,596,438 (GRCm39)	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,795,511 (GRCm39)	P1522Q	unknown	Het
Colgalt1	C	T	8: 72,074,514 (GRCm39)	L409F	probably damaging	Het
Crtc2	A	G	3: 90,166,907 (GRCm39)	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,458,519 (GRCm39)	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,184,643 (GRCm39)	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Ddah1	A	G	3: 145,597,261 (GRCm39)	D166G	probably benign	Het
Dmtn	T	C	14: 70,854,795 (GRCm39)	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,469,043 (GRCm39)	D607V	probably damaging	Het
Ebf1	T	A	11: 44,774,712 (GRCm39)	N236K	probably damaging	Het
Emc1	A	G	4: 139,093,689 (GRCm39)	T600A	probably benign	Het
Fbxo33	T	C	12: 59,251,435 (GRCm39)	N360S	probably benign	Het
Fhad1	T	A	4: 141,618,263 (GRCm39)	K1388*	probably null	Het
Fzd7	A	G	1: 59,523,004 (GRCm39)	M296V	probably benign	Het
Gdpd3	T	C	7: 126,370,336 (GRCm39)	I257T	probably benign	Het
Glt28d2	T	G	3: 85,779,248 (GRCm39)	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,502,937 (GRCm39)		probably benign	Het
Gm28729	A	G	9: 96,401,494 (GRCm39)	I98T	probably damaging	Het
Gm4924	C	T	10: 82,213,065 (GRCm39)	Q288*	probably null	Het
Gpr150	T	C	13: 76,204,676 (GRCm39)	M90V	probably damaging	Het
Ireb2	G	A	9: 54,794,656 (GRCm39)	V331I	probably benign	Het
Lpcat2b	A	T	5: 107,581,760 (GRCm39)	Y363F	probably benign	Het
Me2	T	C	18: 73,918,852 (GRCm39)	I410V	probably benign	Het
Naxe	T	C	3: 87,965,537 (GRCm39)	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,523,671 (GRCm39)	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,046,905 (GRCm39)	Y1149F	probably damaging	Het
Nrg1	A	G	8: 32,308,508 (GRCm39)	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,304,104 (GRCm39)	P64S	probably benign	Het
Pkd1l3	A	T	8: 110,349,811 (GRCm39)	T219S	unknown	Het
Plagl1	T	C	10: 13,002,975 (GRCm39)	L81P	probably damaging	Het
Poglut3	T	C	9: 53,311,042 (GRCm39)	V481A	possibly damaging	Het
Polq	A	G	16: 36,866,174 (GRCm39)	Q457R	possibly damaging	Het
Potefam1	A	G	2: 111,058,293 (GRCm39)	Y167H	probably benign	Het
Ppargc1a	C	A	5: 51,631,253 (GRCm39)	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,104,362 (GRCm39)	D253G	probably benign	Het
Prl2c2	T	A	13: 13,176,757 (GRCm39)	N55Y	probably damaging	Het
Prlr	T	C	15: 10,328,935 (GRCm39)	F470S	probably benign	Het
Serpina12	T	C	12: 104,004,500 (GRCm39)	D44G	probably benign	Het
Sfxn1	T	G	13: 54,260,526 (GRCm39)	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,388,446 (GRCm39)	D224G	probably benign	Het
Slc30a7	A	G	3: 115,784,392 (GRCm39)	F123S	probably damaging	Het
Spata31f1a	A	G	4: 42,849,345 (GRCm39)	V937A	probably benign	Het
Stox2	T	A	8: 47,645,055 (GRCm39)	M802L	probably benign	Het
Tmem150a	G	A	6: 72,333,728 (GRCm39)	R30H	probably benign	Het
Tmem210	G	A	2: 25,178,776 (GRCm39)		probably null	Het
Tor3a	T	C	1: 156,484,143 (GRCm39)	N269S	possibly damaging	Het
Trp63	A	C	16: 25,703,603 (GRCm39)	N423T	probably benign	Het
Vmn2r60	A	G	7: 41,785,045 (GRCm39)	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,606,348 (GRCm39)	I333V	probably benign	Het
Vwa7	C	A	17: 35,240,186 (GRCm39)	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,687,014 (GRCm39)		probably null	Het
Wdr31	A	G	4: 62,381,661 (GRCm39)	Y57H	probably damaging	Het
Zbtb44	T	A	9: 30,964,678 (GRCm39)	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,757,509 (GRCm39)	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,521,084 (GRCm39)	R184S	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
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
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'- TGACCAGCACCCAACTGTTATC -3'
(R):5'- TCCTGGTGTCAGCGTCATTG -3'

Sequencing Primer
(F):5'- AGCGGCTCTTTAAGATCC -3'
(R):5'- TCAGCGTCATTGCACTCTGGAG -3'

Posted On

2017-10-10