Mutagenetix > Incidental Mutation

Incidental Mutation 'R9102:Fbxo39'

691772

Institutional Source

Beutler Lab

Gene Symbol

Fbxo39

Ensembl Gene

ENSMUSG00000070388

Gene Name

F-box protein 39

Synonyms

1700010H23Rik

MMRRC Submission

068916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72205270-72210242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72208316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 223 (F223L)

Ref Sequence

ENSEMBL: ENSMUSP00000104144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108504] [ENSMUST00000146233]

AlphaFold

Q5NBU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108504
AA Change: F223L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104144
Gene: ENSMUSG00000070388
AA Change: F223L

Domain	Start	End	E-Value	Type
FBOX	19	59	7.88e-3	SMART
SCOP:d1a4ya_	130	274	4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146233

SMART Domains

Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483

Domain	Start	End	E-Value	Type
PDB:2LXW\|A	228	270	3e-12	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (62/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam33	T	C	2: 130,897,737 (GRCm39)	Q227R	probably benign	Het
Adgrb2	G	A	4: 129,912,802 (GRCm39)	G1276D	probably benign	Het
Adra1b	A	G	11: 43,667,056 (GRCm39)	S394P	possibly damaging	Het
Arap2	T	A	5: 62,906,341 (GRCm39)	H226L	probably benign	Het
Bckdk	A	G	7: 127,506,658 (GRCm39)	D297G	probably null	Het
Brwd1	T	C	16: 95,869,725 (GRCm39)	T101A	probably benign	Het
Ciita	A	G	16: 10,324,565 (GRCm39)	R166G	probably benign	Het
Cnksr1	A	G	4: 133,956,323 (GRCm39)	F587S	probably damaging	Het
Col4a1	A	T	8: 11,253,007 (GRCm39)	C1548S	possibly damaging	Het
Cxcl15	G	T	5: 90,949,154 (GRCm39)	M106I		Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dlg5	G	A	14: 24,199,567 (GRCm39)	P1446S	probably damaging	Het
Dnah6	A	T	6: 73,044,469 (GRCm39)	I3214N	probably benign	Het
Dnmt3b	T	C	2: 153,518,703 (GRCm39)	V622A	probably damaging	Het
Fam170b	T	A	14: 32,557,404 (GRCm39)	S80T	probably damaging	Het
Fbxl13	G	T	5: 21,837,801 (GRCm39)	H45Q	probably benign	Het
Fndc3b	C	A	3: 27,523,014 (GRCm39)		probably null	Het
Gbp3	G	C	3: 142,273,586 (GRCm39)	V378L	probably benign	Het
Gc	C	T	5: 89,591,444 (GRCm39)	S98N	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gpr158	A	T	2: 21,830,078 (GRCm39)	S708C	probably damaging	Het
Hmcn1	A	T	1: 150,573,331 (GRCm39)	M2106K	probably benign	Het
Hoxd11	T	A	2: 74,513,274 (GRCm39)	Y180N	possibly damaging	Het
Hydin	A	G	8: 111,235,546 (GRCm39)	I1844V	probably benign	Het
Knl1	T	C	2: 118,917,973 (GRCm39)	I1777T	probably benign	Het
Krt33b	A	C	11: 99,915,846 (GRCm39)	L300R	probably damaging	Het
Madd	C	T	2: 90,988,404 (GRCm39)	A1208T	probably benign	Het
Meis2	T	A	2: 115,694,760 (GRCm39)	N461I	probably benign	Het
Mgat1	T	A	11: 49,152,165 (GRCm39)	V216E	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nrsn1	A	G	13: 25,437,517 (GRCm39)	M137T	probably benign	Het
Nrxn3	T	C	12: 90,298,924 (GRCm39)	S1015P	probably benign	Het
Nudt22	T	A	19: 6,972,119 (GRCm39)	I166F	probably benign	Het
Or10d1b	A	C	9: 39,613,984 (GRCm39)	V27G	probably benign	Het
Or5j1	C	T	2: 86,879,171 (GRCm39)	M136I	possibly damaging	Het
Or6k4	A	T	1: 173,964,322 (GRCm39)	N4I		Het
Or6n2	T	A	1: 173,897,176 (GRCm39)	F104Y	probably damaging	Het
Or8b4	T	A	9: 37,829,992 (GRCm39)	I13N	probably damaging	Het
Or8g31-ps1	C	T	9: 39,276,388 (GRCm39)	P178S	unknown	Het
Pcdha4	T	A	18: 37,087,630 (GRCm39)	N604K	probably damaging	Het
Plxnc1	C	T	10: 94,663,107 (GRCm39)	V1181M	probably damaging	Het
Pms1	G	C	1: 53,307,021 (GRCm39)	H128Q	probably benign	Het
Prkar2b	G	A	12: 32,013,025 (GRCm39)	H364Y	probably benign	Het
Pus7	A	T	5: 23,957,380 (GRCm39)	I357K	possibly damaging	Het
Rsf1	GCGGC	GCGGCGGCGCCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,508,906 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,915,389 (GRCm39)	I1401V	probably benign	Het
Slc6a6	G	T	6: 91,731,940 (GRCm39)	V590L	probably benign	Het
Slc9b1	C	T	3: 135,100,725 (GRCm39)	P490L	probably damaging	Het
Sprn	T	C	7: 139,733,278 (GRCm39)	D98G	possibly damaging	Het
Srrm4	T	C	5: 116,620,563 (GRCm39)	D55G	unknown	Het
Sugct	A	G	13: 17,497,833 (GRCm39)	V280A	probably benign	Het
Tbx6	A	G	7: 126,381,014 (GRCm39)	E83G	possibly damaging	Het
Tmem120a	T	C	5: 135,765,455 (GRCm39)	T209A	probably benign	Het
Top3a	T	C	11: 60,647,155 (GRCm39)	R255G	probably damaging	Het
Trav6-1	T	A	14: 52,876,008 (GRCm39)	F13I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,622 (GRCm39)	E410G	probably benign	Het
Ubr5	A	G	15: 38,018,596 (GRCm39)	V842A		Het
Ubtf	A	G	11: 102,201,015 (GRCm39)		probably null	Het
Vwa3b	G	A	1: 37,174,593 (GRCm39)	M1I	probably null	Het
Zfp518b	T	C	5: 38,831,181 (GRCm39)	T275A	probably benign	Het

Other mutations in Fbxo39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02828:Fbxo39	APN	11	72,208,041 (GRCm39)	missense	possibly damaging	0.95
R0281:Fbxo39	UTSW	11	72,208,356 (GRCm39)	missense	probably benign	0.27
R0479:Fbxo39	UTSW	11	72,208,419 (GRCm39)	missense	probably damaging	1.00
R0541:Fbxo39	UTSW	11	72,209,297 (GRCm39)	missense	probably benign	0.00
R0597:Fbxo39	UTSW	11	72,207,747 (GRCm39)	missense	probably damaging	1.00
R0694:Fbxo39	UTSW	11	72,209,295 (GRCm39)	missense	probably benign	0.06
R1452:Fbxo39	UTSW	11	72,209,228 (GRCm39)	missense	probably benign	0.00
R2504:Fbxo39	UTSW	11	72,208,111 (GRCm39)	missense	probably benign	0.01
R3771:Fbxo39	UTSW	11	72,208,041 (GRCm39)	missense	possibly damaging	0.49
R6770:Fbxo39	UTSW	11	72,208,622 (GRCm39)	missense	possibly damaging	0.45
R7361:Fbxo39	UTSW	11	72,207,800 (GRCm39)	missense	possibly damaging	0.48
R7911:Fbxo39	UTSW	11	72,208,358 (GRCm39)	missense	probably damaging	1.00
R8151:Fbxo39	UTSW	11	72,208,526 (GRCm39)	missense	probably damaging	0.99
R8334:Fbxo39	UTSW	11	72,208,470 (GRCm39)	nonsense	probably null
R8770:Fbxo39	UTSW	11	72,209,285 (GRCm39)	missense	probably damaging	0.99
R8997:Fbxo39	UTSW	11	72,208,466 (GRCm39)	missense	probably damaging	0.97
R9333:Fbxo39	UTSW	11	72,208,349 (GRCm39)	missense	probably damaging	1.00
R9608:Fbxo39	UTSW	11	72,208,101 (GRCm39)	missense	probably benign	0.00
X0058:Fbxo39	UTSW	11	72,208,227 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATCTCAGCCTGAAAGGAGCC -3'
(R):5'- AGGCGTTCATATTTCATCACCCG -3'

Sequencing Primer
(F):5'- TGAAAGGAGCCCGGCTGAC -3'
(R):5'- GTTCATATTTCATCACCCGCTCAAAG -3'

Posted On

2021-12-30