Mutagenetix > Incidental Mutations

Incidental Mutation 'R8313:Fbxo22'

641506

Institutional Source

Beutler Lab

Gene Symbol

Fbxo22

Ensembl Gene

ENSMUSG00000032309

Gene Name

F-box protein 22

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55208925-55224433 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55221060 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 222 (F222I)

Ref Sequence

ENSEMBL: ENSMUSP00000034859 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034859
AA Change: F222I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034859
Gene: ENSMUSG00000032309
AA Change: F222I

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

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

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: 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 damaging
Transcript: ENSMUST00000146201
AA Change: F119I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309
AA Change: F119I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153970

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl2	C	T	17: 79,852,604	W518*	probably null	Het
Atp13a2	G	A	4: 141,002,735	V646I	probably benign	Het
Bcar1	A	T	8: 111,713,638	F575I	probably benign	Het
Bpifa6	T	A	2: 153,989,258	L248*	probably null	Het
Ccdc38	T	C	10: 93,563,249	L193P	probably damaging	Het
Ch25h	A	C	19: 34,474,738	I130S	probably benign	Het
Chaf1a	C	A	17: 56,044,109	Q30K	unknown	Het
Dab2ip	T	C	2: 35,727,428	L1106S	probably damaging	Het
Dnah3	A	G	7: 119,951,152	Y3315H	probably benign	Het
Dnah7b	G	A	1: 46,175,296	V1074I	possibly damaging	Het
Efemp1	A	G	11: 28,910,691	Q200R	probably benign	Het
Epx	C	T	11: 87,872,731	R221Q	possibly damaging	Het
Exosc7	T	C	9: 123,127,877	L109P	probably damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fcgbp	A	G	7: 28,086,344	D402G	probably benign	Het
Foxr1	A	G	9: 44,436,054	V62A	probably damaging	Het
Gm2016	A	T	12: 87,876,994	D137V	unknown	Het
Gm8267	A	T	14: 44,724,058	H59Q	probably damaging	Het
Gnptab	T	A	10: 88,439,209	Y1090N	probably damaging	Het
Gpr20	A	G	15: 73,696,312	F76S	probably damaging	Het
Gpr33	A	G	12: 52,024,124	V44A	probably benign	Het
Grin3a	G	A	4: 49,665,599	T1012I	probably benign	Het
Itga1	T	A	13: 114,966,584	T1104S	probably benign	Het
Kidins220	T	A	12: 25,004,111	Y537N	probably damaging	Het
Lama1	A	G	17: 67,750,520	T530A		Het
Lysmd2	A	T	9: 75,625,758		probably benign	Het
Mdk	T	C	2: 91,930,833	K128E	unknown	Het
Mphosph8	AC	A	14: 56,678,605		probably null	Het
Muc16	A	C	9: 18,525,147	L7915W	possibly damaging	Het
Muc4	A	T	16: 32,753,423	T1100S	probably benign	Het
Mxra7	T	C	11: 116,804,550	Y176C	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Myo18b	A	G	5: 112,875,179	S116P	unknown	Het
Noc3l	A	G	19: 38,795,810	L543P	probably damaging	Het
Olfr1355	C	T	10: 78,879,336	P55S	probably benign	Het
Olfr192	C	T	16: 59,098,641	G117D	unknown	Het
Olfr250	T	A	9: 38,368,050	V168E	probably damaging	Het
Pkm	G	T	9: 59,668,619	R106L	probably benign	Het
Prkab2	G	T	3: 97,663,595	V112F	probably benign	Het
Prkaca	A	T	8: 83,990,522	N172Y	probably damaging	Het
Prmt8	A	G	6: 127,689,850	V387A	probably benign	Het
Rad17	T	C	13: 100,624,566	T485A	probably benign	Het
Rita1	G	T	5: 120,609,651	T194K	possibly damaging	Het
Rogdi	C	A	16: 5,013,449		probably benign	Het
Senp5	T	C	16: 31,989,299	D379G	probably benign	Het
Slc4a4	A	G	5: 89,046,263	K201E	possibly damaging	Het
Slc9a4	C	T	1: 40,580,360		probably benign	Het
Tmem175	T	A	5: 108,643,209	S208R	probably benign	Het
Tmem237	A	T	1: 59,108,078	Y299N	probably damaging	Het
Tnrc6a	T	A	7: 123,170,713	N575K	possibly damaging	Het
Trak2	A	T	1: 58,921,147	C232*	probably null	Het
Ubr3	A	G	2: 69,945,134	H589R	probably damaging	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn1r231	C	T	17: 20,890,027	V209I	probably benign	Het
Vmn1r80	T	C	7: 12,193,067	F35L	probably benign	Het
Vmn2r58	A	T	7: 41,872,528	I48N	probably benign	Het
Vstm2a	T	A	11: 16,281,898	V231E	probably damaging	Het
Zfp108	A	C	7: 24,260,662	Y226S	possibly damaging	Het
Zfp445	A	T	9: 122,853,630	N415K	possibly damaging	Het
Zfp938	T	G	10: 82,225,588	R399S	possibly damaging	Het
Zmym4	G	A	4: 126,910,969	H464Y	probably benign	Het

Other mutations in Fbxo22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4342:Fbxo22	UTSW	9	55221070	splice site	probably null
FR4737:Fbxo22	UTSW	9	55209382	missense	probably damaging	1.00
R0112:Fbxo22	UTSW	9	55223346	missense	probably benign	0.00
R0414:Fbxo22	UTSW	9	55223626	missense	possibly damaging	0.86
R0634:Fbxo22	UTSW	9	55214960	missense	probably benign	0.43
R0694:Fbxo22	UTSW	9	55221139	missense	probably damaging	0.99
R1799:Fbxo22	UTSW	9	55223487	missense	probably benign	0.00
R1958:Fbxo22	UTSW	9	55209342	splice site	probably null
R2060:Fbxo22	UTSW	9	55218383	missense	probably damaging	0.97
R2850:Fbxo22	UTSW	9	55223415	missense	probably damaging	1.00
R3883:Fbxo22	UTSW	9	55223262	missense	probably benign
R4649:Fbxo22	UTSW	9	55221049	missense	probably damaging	1.00
R5829:Fbxo22	UTSW	9	55218312	splice site	probably null
R7260:Fbxo22	UTSW	9	55218470	missense	probably benign	0.00
R7329:Fbxo22	UTSW	9	55214977	missense	probably benign	0.01
R7838:Fbxo22	UTSW	9	55218367	missense	probably damaging	1.00
R7921:Fbxo22	UTSW	9	55218353	missense	probably benign	0.18
R8385:Fbxo22	UTSW	9	55213949	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGCCCTTGCTTATGTGAGG -3'
(R):5'- CAAATATTTCTATTTACCCACGGGG -3'

Sequencing Primer
(F):5'- GCCCTTGCTTATGTGAGGCATATTAC -3'
(R):5'- GGAAGAGCAAAGTACTCAGGCTTAC -3'

Posted On

2020-07-28