Mutagenetix > Incidental Mutation

Incidental Mutation 'R0414:Fbxo22'

40173

Institutional Source

Beutler Lab

Gene Symbol

Fbxo22

Ensembl Gene

ENSMUSG00000032309

Gene Name

F-box protein 22

Synonyms

0610033L19Rik, 1600016C16Rik

MMRRC Submission

038616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55116219-55131717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55130910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 393 (M393K)

Ref Sequence

ENSEMBL: ENSMUSP00000034859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034859] [ENSMUST00000130158] [ENSMUST00000133795] [ENSMUST00000135531] [ENSMUST00000137675] [ENSMUST00000146201] [ENSMUST00000164721] [ENSMUST00000140375] [ENSMUST00000153970] [ENSMUST00000145784]

AlphaFold

Q78JE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034859
AA Change: M393K

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034859
Gene: ENSMUSG00000032309
AA Change: M393K

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 benign
Transcript: ENSMUST00000133795

Predicted Effect

probably benign
Transcript: ENSMUST00000135531

Predicted Effect

probably benign
Transcript: ENSMUST00000137675

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139261

Predicted Effect

probably benign
Transcript: ENSMUST00000146201
AA Change: M290K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309
AA Change: M290K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144939

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

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 benign
Transcript: ENSMUST00000153970

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

Meta Mutation Damage Score

0.5424

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	A	T	5: 103,797,356 (GRCm39)	V51E	probably benign	Het
Abo	T	C	2: 26,733,428 (GRCm39)	Y259C	probably damaging	Het
Adamts5	A	G	16: 85,674,794 (GRCm39)	S457P	probably damaging	Het
Alk	G	T	17: 72,206,281 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,439,230 (GRCm39)	I1188T	probably benign	Het
Ambra1	T	C	2: 91,706,084 (GRCm39)	S730P	possibly damaging	Het
Arhgef2	T	C	3: 88,539,575 (GRCm39)		probably benign	Het
Atpsckmt	T	A	15: 31,617,148 (GRCm39)	Y126*	probably null	Het
B3gnt7	T	C	1: 86,233,351 (GRCm39)	I82T	probably damaging	Het
B4galnt3	T	C	6: 120,193,526 (GRCm39)	D400G	probably benign	Het
Bag4	A	G	8: 26,258,025 (GRCm39)	V434A	possibly damaging	Het
Cfap251	A	G	5: 123,425,476 (GRCm39)		probably null	Het
Cfc1	A	G	1: 34,576,409 (GRCm39)	D130G	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clec2m	T	C	6: 129,303,813 (GRCm39)		probably benign	Het
Crybg2	GAGAAGAAG	GAGAAG	4: 133,799,947 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,390,064 (GRCm39)	D727G	probably benign	Het
Dock10	C	A	1: 80,513,650 (GRCm39)	V1129F	possibly damaging	Het
Dsc1	A	T	18: 20,221,411 (GRCm39)	I688N	possibly damaging	Het
Dyrk1a	C	G	16: 94,464,701 (GRCm39)	T103R	probably damaging	Het
Ebf1	C	T	11: 44,815,297 (GRCm39)	R304*	probably null	Het
Eif2s2	A	G	2: 154,726,381 (GRCm39)		probably benign	Het
Endov	T	G	11: 119,390,397 (GRCm39)	Y8*	probably null	Het
Eps15	T	A	4: 109,223,677 (GRCm39)	D485E	probably damaging	Het
Fam118a	C	A	15: 84,929,890 (GRCm39)	S39R	probably damaging	Het
Firrm	T	C	1: 163,795,890 (GRCm39)	I434V	probably benign	Het
Gab1	A	G	8: 81,526,918 (GRCm39)	I60T	probably damaging	Het
Gapvd1	A	G	2: 34,583,439 (GRCm39)	L1059P	probably benign	Het
Gbp5	A	G	3: 142,213,674 (GRCm39)		probably null	Het
Glb1l2	T	A	9: 26,676,400 (GRCm39)	K487*	probably null	Het
H1f1	A	G	13: 23,948,141 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,591,573 (GRCm39)	I1875M	possibly damaging	Het
Jkamp	T	C	12: 72,140,919 (GRCm39)		probably null	Het
Kprp	C	T	3: 92,733,020 (GRCm39)	C10Y	probably damaging	Het
Lrig2	A	G	3: 104,401,372 (GRCm39)		probably null	Het
Lrrn3	T	A	12: 41,503,939 (GRCm39)	N126I	probably damaging	Het
Mug1	T	C	6: 121,833,513 (GRCm39)	F325L	probably benign	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Nagk	C	T	6: 83,774,249 (GRCm39)	R87*	probably null	Het
Nipal4	T	A	11: 46,052,735 (GRCm39)	I77F	probably damaging	Het
Or4c112	A	G	2: 88,853,490 (GRCm39)	Y286H	probably damaging	Het
Osbp2	T	C	11: 3,769,932 (GRCm39)	H250R	probably damaging	Het
Pcx	T	C	19: 4,657,670 (GRCm39)	V378A	possibly damaging	Het
Pfkp	T	A	13: 6,643,246 (GRCm39)	H524L	probably benign	Het
Picalm	A	T	7: 89,838,406 (GRCm39)	N370I	possibly damaging	Het
Plcl2	A	C	17: 50,914,983 (GRCm39)	D664A	possibly damaging	Het
Ptpn5	G	A	7: 46,732,884 (GRCm39)	P320S	probably benign	Het
Scn3a	T	A	2: 65,356,326 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,581,115 (GRCm39)	D96G	possibly damaging	Het
Slfn1	A	G	11: 83,012,096 (GRCm39)	I71V	probably benign	Het
Spata1	A	G	3: 146,181,943 (GRCm39)		probably null	Het
Stx18	T	C	5: 38,262,349 (GRCm39)		probably benign	Het
Suox	T	A	10: 128,507,326 (GRCm39)	H234L	probably benign	Het
Tbc1d17	T	C	7: 44,495,483 (GRCm39)	S114G	probably benign	Het
Tfeb	T	A	17: 48,099,224 (GRCm39)		probably null	Het
Tnks	A	C	8: 35,320,463 (GRCm39)	V736G	probably damaging	Het
Wdhd1	T	C	14: 47,514,045 (GRCm39)	T4A	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
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
R5829:Fbxo22	UTSW	9	55,125,596 (GRCm39)	splice site	probably null
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'- CCCTGAACAGAACACCATTGGCTTC -3'
(R):5'- TCATCCCAAAGTGACCTCAGAGCG -3'

Sequencing Primer
(F):5'- CCGAGGCTTTCAGTACTACAGAG -3'
(R):5'- TGACCTCAGAGCGTCACC -3'

Posted On

2013-05-23