Mutagenetix > Incidental Mutation

Incidental Mutation 'R5887:Fbxo33'

456179

Institutional Source

Beutler Lab

Gene Symbol

Fbxo33

Ensembl Gene

ENSMUSG00000035329

Gene Name

F-box protein 33

Synonyms

5730501N20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5887 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59247441-59266511 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59251545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 57 (C57*)

Ref Sequence

ENSEMBL: ENSMUSP00000125666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043204] [ENSMUST00000161351]

AlphaFold

Q8VE08

Predicted Effect

probably null
Transcript: ENSMUST00000043204
AA Change: C323*

SMART Domains

Protein: ENSMUSP00000035948
Gene: ENSMUSG00000035329
AA Change: C323*

Domain	Start	End	E-Value	Type
low complexity region	8	58	N/A	INTRINSIC
FBOX	74	114	3.3e-5	SMART
low complexity region	154	176	N/A	INTRINSIC
SCOP:d1a4ya_	262	347	2e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160204

Predicted Effect

probably null
Transcript: ENSMUST00000161351
AA Change: C57*

Predicted Effect

probably benign
Transcript: ENSMUST00000162855

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,892,124 (GRCm39)	Q129*	probably null	Het
Acad8	A	T	9: 26,890,620 (GRCm39)		probably null	Het
AK157302	T	C	13: 21,679,579 (GRCm39)	I35T	possibly damaging	Het
Arfgef3	G	T	10: 18,483,413 (GRCm39)	S1437*	probably null	Het
Calcrl	A	T	2: 84,200,841 (GRCm39)	W68R	probably damaging	Het
Cd200l1	T	A	16: 45,238,279 (GRCm39)	L178F	probably damaging	Het
Cd59a	A	G	2: 103,934,546 (GRCm39)	R5G	probably damaging	Het
Chl1	C	T	6: 103,694,565 (GRCm39)	A1091V	probably benign	Het
Copg1	T	C	6: 87,879,279 (GRCm39)	F442L	probably damaging	Het
Creld1	T	C	6: 113,469,860 (GRCm39)	*421Q	probably null	Het
Crocc2	T	A	1: 93,121,838 (GRCm39)	H662Q	possibly damaging	Het
Csf2ra	G	A	19: 61,215,766 (GRCm39)	A13V	possibly damaging	Het
Cul3	T	C	1: 80,254,139 (GRCm39)	T546A	possibly damaging	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Dock6	T	A	9: 21,731,690 (GRCm39)	H1173L	probably damaging	Het
Dpysl4	T	C	7: 138,676,192 (GRCm39)	I328T	possibly damaging	Het
Dspp	G	A	5: 104,323,321 (GRCm39)	G155R	probably damaging	Het
Frrs1	T	A	3: 116,690,399 (GRCm39)	V14D	probably benign	Het
Gm13199	C	T	2: 5,867,113 (GRCm39)	G96S	unknown	Het
Gpr155	A	T	2: 73,174,062 (GRCm39)	C754*	probably null	Het
Gpr62	A	T	9: 106,342,814 (GRCm39)	V38E	probably damaging	Het
Kcnt2	C	A	1: 140,353,104 (GRCm39)	P271H	probably damaging	Het
Kpna3	C	T	14: 61,640,461 (GRCm39)	V34I	probably benign	Het
Lamb1	C	T	12: 31,316,863 (GRCm39)	Q71*	probably null	Het
Lipk	T	C	19: 34,016,507 (GRCm39)	I245T	possibly damaging	Het
Lrp1b	T	G	2: 40,711,719 (GRCm39)	N3281T	possibly damaging	Het
Lrp5	A	C	19: 3,654,094 (GRCm39)	I1111S	probably benign	Het
Mmrn1	T	C	6: 60,964,058 (GRCm39)	V1020A	probably benign	Het
Or4c107	G	A	2: 88,789,098 (GRCm39)	C96Y	possibly damaging	Het
Or8b48	G	A	9: 38,493,080 (GRCm39)	C169Y	probably damaging	Het
Or8g34	T	C	9: 39,372,787 (GRCm39)	L17P	probably damaging	Het
Pcdha7	A	T	18: 37,108,960 (GRCm39)	T662S	probably damaging	Het
Pcdhga6	A	G	18: 37,841,612 (GRCm39)	D444G	probably damaging	Het
Pkd2	T	G	5: 104,646,405 (GRCm39)	D737E	probably damaging	Het
Plcd4	C	T	1: 74,590,249 (GRCm39)	R161W	probably damaging	Het
Prpf8	A	G	11: 75,391,734 (GRCm39)	Y1494C	possibly damaging	Het
Rad17	A	C	13: 100,770,369 (GRCm39)		probably null	Het
Rbm17	A	T	2: 11,590,485 (GRCm39)	F390Y	probably damaging	Het
Rhod	A	T	19: 4,489,315 (GRCm39)	L22Q	probably damaging	Het
Serpina1f	T	C	12: 103,656,046 (GRCm39)	D394G	possibly damaging	Het
Serpina1f	G	A	12: 103,659,890 (GRCm39)	Q131*	probably null	Het
Spocd1	A	T	4: 129,842,752 (GRCm39)	S56C	probably damaging	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Tasor	T	A	14: 27,188,254 (GRCm39)	L900*	probably null	Het
Tbx18	T	C	9: 87,595,566 (GRCm39)	D336G	possibly damaging	Het
Tfg	A	T	16: 56,514,779 (GRCm39)	Y135*	probably null	Het
Tjp2	A	G	19: 24,073,963 (GRCm39)	L1108P	probably benign	Het
Tmem150c	C	A	5: 100,243,524 (GRCm39)	V8L	probably benign	Het
Ttn	A	T	2: 76,746,789 (GRCm39)	H4753Q	probably benign	Het
Tyw1	T	A	5: 130,354,540 (GRCm39)	I589N	probably damaging	Het
Usp40	C	T	1: 87,927,592 (GRCm39)	R139Q	probably damaging	Het
Zgrf1	A	G	3: 127,378,414 (GRCm39)	Y174C	probably damaging	Het

Other mutations in Fbxo33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Fbxo33	APN	12	59,249,456 (GRCm39)	missense	probably damaging	1.00
IGL03006:Fbxo33	APN	12	59,251,105 (GRCm39)	missense	probably benign	0.05
D4216:Fbxo33	UTSW	12	59,252,836 (GRCm39)	missense	probably benign	0.03
R0751:Fbxo33	UTSW	12	59,265,878 (GRCm39)	missense	probably damaging	1.00
R0762:Fbxo33	UTSW	12	59,251,285 (GRCm39)	missense	probably benign	0.02
R1686:Fbxo33	UTSW	12	59,251,626 (GRCm39)	missense	possibly damaging	0.62
R4085:Fbxo33	UTSW	12	59,247,591 (GRCm39)	utr 3 prime	probably benign
R4363:Fbxo33	UTSW	12	59,251,648 (GRCm39)	missense	probably damaging	1.00
R4646:Fbxo33	UTSW	12	59,251,217 (GRCm39)	missense	probably benign	0.18
R4751:Fbxo33	UTSW	12	59,247,714 (GRCm39)	intron	probably benign
R4807:Fbxo33	UTSW	12	59,265,998 (GRCm39)	missense	probably damaging	1.00
R5058:Fbxo33	UTSW	12	59,265,919 (GRCm39)	missense	probably benign	0.28
R5379:Fbxo33	UTSW	12	59,266,246 (GRCm39)	unclassified	probably benign
R6170:Fbxo33	UTSW	12	59,251,435 (GRCm39)	missense	probably benign	0.11
R6244:Fbxo33	UTSW	12	59,252,865 (GRCm39)	missense	probably benign	0.29
R7378:Fbxo33	UTSW	12	59,251,157 (GRCm39)	nonsense	probably null
R7873:Fbxo33	UTSW	12	59,265,807 (GRCm39)	missense	possibly damaging	0.52
R8681:Fbxo33	UTSW	12	59,265,830 (GRCm39)	missense	probably benign	0.29
R9180:Fbxo33	UTSW	12	59,251,095 (GRCm39)	critical splice donor site	probably null
R9742:Fbxo33	UTSW	12	59,251,682 (GRCm39)	missense	probably damaging	1.00
R9762:Fbxo33	UTSW	12	59,251,708 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTCAAAGTGAACCCTC -3'
(R):5'- TGCTGGAAATAGTAACCCCAAC -3'

Sequencing Primer
(F):5'- GAACCCTCTCAAGTGGTATACTGG -3'
(R):5'- AACATCACTGTCGTCTCTGTCTAAC -3'

Posted On

2017-02-15