Mutagenetix > Incidental Mutation

Incidental Mutation 'R5829:Fbxo22'

450327

Institutional Source

Beutler Lab

Gene Symbol

Fbxo22

Ensembl Gene

ENSMUSG00000032309

Gene Name

F-box protein 22

Synonyms

0610033L19Rik, 1600016C16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55116219-55131717 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 55125596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034859] [ENSMUST00000130158] [ENSMUST00000133795] [ENSMUST00000133795] [ENSMUST00000137675] [ENSMUST00000140375] [ENSMUST00000146201] [ENSMUST00000146201] [ENSMUST00000153970] [ENSMUST00000145784] [ENSMUST00000164721]

AlphaFold

Q78JE5

Predicted Effect

probably null
Transcript: ENSMUST00000034859

SMART Domains

Protein: ENSMUSP00000034859
Gene: ENSMUSG00000032309

Domain	Start	End	E-Value	Type
Pfam:F-box	22	66	1.7e-6	PFAM
FIST_C	231	365	2.61e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126368

Predicted Effect

probably benign
Transcript: ENSMUST00000130158

SMART Domains

Protein: ENSMUSP00000115247
Gene: ENSMUSG00000032311

Domain	Start	End	E-Value	Type
EGF	8	46	4.78e-3	SMART
transmembrane domain	61	83	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000133795

Predicted Effect

probably null
Transcript: ENSMUST00000133795

Predicted Effect

probably benign
Transcript: ENSMUST00000137675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139261

Predicted Effect

probably benign
Transcript: ENSMUST00000140375

SMART Domains

Protein: ENSMUSP00000117341
Gene: ENSMUSG00000032309

Domain	Start	End	E-Value	Type
Pfam:F-box	21	66	3e-8	PFAM
Pfam:F-box-like	26	66	4.5e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000146201

SMART Domains

Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309

Domain	Start	End	E-Value	Type
FIST_C	128	262	2.61e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000146201

SMART Domains

Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309

Domain	Start	End	E-Value	Type
FIST_C	128	262	2.61e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144939

Predicted Effect

probably benign
Transcript: ENSMUST00000145784

SMART Domains

Protein: ENSMUSP00000115851
Gene: ENSMUSG00000032311

Domain	Start	End	E-Value	Type
Blast:EGF	8	35	9e-13	BLAST
SCOP:d1jl9a_	9	35	6e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164721

SMART Domains

Protein: ENSMUSP00000130929
Gene: ENSMUSG00000032311

Domain	Start	End	E-Value	Type
EGF	8	46	4.78e-3	SMART
transmembrane domain	61	83	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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 which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 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 belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Atp6v1e2	T	C	17: 87,252,144 (GRCm39)	R85G	probably benign	Het
Bmpr1b	T	C	3: 141,550,918 (GRCm39)	H391R	probably benign	Het
Camsap3	A	G	8: 3,647,899 (GRCm39)	H69R	probably damaging	Het
Cimip2a	G	A	2: 25,108,869 (GRCm39)		probably null	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Dab2ip	ATCCT	ATCCTCCT	2: 35,597,787 (GRCm39)		probably benign	Het
Epha4	G	A	1: 77,421,631 (GRCm39)	L284F	probably benign	Het
Fat4	T	C	3: 39,061,454 (GRCm39)	S4346P	probably damaging	Het
Gcc1	C	A	6: 28,419,690 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,674 (GRCm39)	S394P	probably damaging	Het
Gdf9	C	T	11: 53,324,516 (GRCm39)	T95M	probably benign	Het
Gpr179	G	A	11: 97,226,524 (GRCm39)	S1877L	probably benign	Het
Gtf2i	A	G	5: 134,292,547 (GRCm39)	V380A	probably damaging	Het
Il17c	G	A	8: 123,148,970 (GRCm39)	R38Q	probably damaging	Het
Il17rd	G	A	14: 26,814,042 (GRCm39)		probably null	Het
Iqch	C	T	9: 63,332,639 (GRCm39)		probably null	Het
Lrrc37	C	T	11: 103,432,712 (GRCm39)	E1310K	possibly damaging	Het
Mpp4	A	T	1: 59,168,101 (GRCm39)	S456R	probably damaging	Het
Nek10	T	C	14: 14,865,404 (GRCm38)	Y601H	probably damaging	Het
Nrxn2	C	T	19: 6,540,879 (GRCm39)	P936L	probably benign	Het
Or8b44	T	A	9: 38,410,545 (GRCm39)	Y193*	probably null	Het
Pcdhb9	T	C	18: 37,534,942 (GRCm39)	V312A	probably damaging	Het
Pex5l	T	C	3: 33,060,139 (GRCm39)	T211A	probably benign	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	A	G	15: 79,171,893 (GRCm39)	F710L	possibly damaging	Het
Repin1	A	T	6: 48,571,766 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,682,902 (GRCm39)	E340V	probably damaging	Het
Ryr3	A	G	2: 112,690,076 (GRCm39)	S1158P	probably damaging	Het
S100a16	A	T	3: 90,449,454 (GRCm39)	Q43L	possibly damaging	Het
Scg2	A	G	1: 79,414,637 (GRCm39)	S29P	probably damaging	Het
Sfrp5	T	C	19: 42,190,095 (GRCm39)	Y119C	probably damaging	Het
Sh3tc2	A	G	18: 62,123,986 (GRCm39)	T916A	probably benign	Het
Smpd3	A	G	8: 106,991,512 (GRCm39)	V347A	probably benign	Het
Tmem212	C	A	3: 27,939,081 (GRCm39)	C135F	possibly damaging	Het
Unc13c	T	A	9: 73,600,650 (GRCm39)	N1365Y	probably benign	Het
Usp13	G	T	3: 32,940,672 (GRCm39)	G395C	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,812 (GRCm39)	N34S	probably benign	Het

Other mutations in Fbxo22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4342:Fbxo22	UTSW	9	55,128,354 (GRCm39)	splice site	probably null
FR4737:Fbxo22	UTSW	9	55,116,666 (GRCm39)	missense	probably damaging	1.00
R0112:Fbxo22	UTSW	9	55,130,630 (GRCm39)	missense	probably benign	0.00
R0414:Fbxo22	UTSW	9	55,130,910 (GRCm39)	missense	possibly damaging	0.86
R0634:Fbxo22	UTSW	9	55,122,244 (GRCm39)	missense	probably benign	0.43
R0694:Fbxo22	UTSW	9	55,128,423 (GRCm39)	missense	probably damaging	0.99
R1799:Fbxo22	UTSW	9	55,130,771 (GRCm39)	missense	probably benign	0.00
R1958:Fbxo22	UTSW	9	55,116,626 (GRCm39)	splice site	probably null
R2060:Fbxo22	UTSW	9	55,125,667 (GRCm39)	missense	probably damaging	0.97
R2850:Fbxo22	UTSW	9	55,130,699 (GRCm39)	missense	probably damaging	1.00
R3883:Fbxo22	UTSW	9	55,130,546 (GRCm39)	missense	probably benign
R4649:Fbxo22	UTSW	9	55,128,333 (GRCm39)	missense	probably damaging	1.00
R7260:Fbxo22	UTSW	9	55,125,754 (GRCm39)	missense	probably benign	0.00
R7329:Fbxo22	UTSW	9	55,122,261 (GRCm39)	missense	probably benign	0.01
R7838:Fbxo22	UTSW	9	55,125,651 (GRCm39)	missense	probably damaging	1.00
R7921:Fbxo22	UTSW	9	55,125,637 (GRCm39)	missense	probably benign	0.18
R8313:Fbxo22	UTSW	9	55,128,344 (GRCm39)	missense	probably damaging	1.00
R8385:Fbxo22	UTSW	9	55,121,233 (GRCm39)	missense	probably damaging	1.00
R9230:Fbxo22	UTSW	9	55,116,442 (GRCm39)	missense	probably damaging	1.00
R9401:Fbxo22	UTSW	9	55,130,628 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTTCATCTGGACTCCACAGC -3'
(R):5'- GTAACTTACCTACTTCAGTAAGCTGG -3'

Sequencing Primer
(F):5'- CCACAGCTGCTCAGTTTGTAAAG -3'
(R):5'- ACTTCAGTAAGCTGGTGTCTTTC -3'

Posted On

2016-12-20