Mutagenetix > Incidental Mutation

Incidental Mutation 'R8997:Fbxo39'

684783

Institutional Source

Beutler Lab

Gene Symbol

Fbxo39

Ensembl Gene

ENSMUSG00000070388

Gene Name

F-box protein 39

Synonyms

1700010H23Rik

MMRRC Submission

068828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72205270-72210242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72208466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 273 (S273T)

Ref Sequence

ENSEMBL: ENSMUSP00000104144 (fasta)

Gene Model

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

AlphaFold

Q5NBU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000108504
AA Change: S273T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104144
Gene: ENSMUSG00000070388
AA Change: S273T

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: 99.9%
10x: 99.3%
20x: 98.1%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	T	1: 11,615,491 (GRCm39)	E155*	probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Adgrv1	GTT	GT	13: 81,553,457 (GRCm39)		probably null	Het
Adra2a	T	C	19: 54,035,729 (GRCm39)	S362P	probably benign	Het
Arid1a	T	A	4: 133,421,343 (GRCm39)	N436Y	unknown	Het
Cma2	T	A	14: 56,210,201 (GRCm39)	C85S	probably benign	Het
Cntn1	G	A	15: 92,132,347 (GRCm39)	V148M	probably damaging	Het
Cntn3	A	G	6: 102,181,023 (GRCm39)	V724A	probably damaging	Het
Dennd1a	C	T	2: 37,690,497 (GRCm39)	G868R	probably benign	Het
Disp2	C	T	2: 118,617,467 (GRCm39)	P154S	probably damaging	Het
Dlgap1	A	G	17: 70,823,528 (GRCm39)	D171G	possibly damaging	Het
Dpp4	A	C	2: 62,164,958 (GRCm39)	I697S	probably damaging	Het
Dync2h1	A	T	9: 7,129,003 (GRCm39)	D1837E	probably benign	Het
Fgf5	A	T	5: 98,423,411 (GRCm39)	*265C	probably null	Het
Fscb	A	G	12: 64,520,758 (GRCm39)	V236A	possibly damaging	Het
Greb1l	A	T	18: 10,510,747 (GRCm39)	T614S	probably damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Il6ra	T	C	3: 89,794,418 (GRCm39)	D181G	probably damaging	Het
Inhba	T	G	13: 16,201,107 (GRCm39)	V223G	possibly damaging	Het
Kcnma1	T	C	14: 23,513,037 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,018,236 (GRCm39)	W1068L	probably null	Het
Mdn1	T	C	4: 32,773,275 (GRCm39)	L5485P	probably damaging	Het
Muc16	T	C	9: 18,518,763 (GRCm39)		probably benign	Het
Ncapd3	T	C	9: 26,959,577 (GRCm39)	F338L	probably damaging	Het
Negr1	T	A	3: 156,721,918 (GRCm39)	I164N	probably damaging	Het
Nek9	A	T	12: 85,367,565 (GRCm39)	C369S	probably benign	Het
Ninl	C	T	2: 150,801,816 (GRCm39)	E151K	probably damaging	Het
Nphp1	A	T	2: 127,595,982 (GRCm39)	S494R	possibly damaging	Het
Nphp4	G	A	4: 152,623,345 (GRCm39)	R673H	probably damaging	Het
Obscn	C	T	11: 58,934,629 (GRCm39)		probably benign	Het
Osbpl8	T	C	10: 111,091,575 (GRCm39)	S82P	probably benign	Het
Pcdhgb1	C	A	18: 37,814,133 (GRCm39)	P208Q	probably damaging	Het
Pik3c2b	A	G	1: 133,018,517 (GRCm39)	E988G	possibly damaging	Het
Rfc1	A	T	5: 65,433,064 (GRCm39)	M722K	probably damaging	Het
Rnf111	A	T	9: 70,383,545 (GRCm39)	N129K	probably damaging	Het
Sdccag8	C	A	1: 176,783,374 (GRCm39)	L628I	probably damaging	Het
Sgcz	G	T	8: 39,127,894 (GRCm39)	D8E	probably benign	Het
Sgip1	T	A	4: 102,790,781 (GRCm39)	F254L		Het
Shf	A	G	2: 122,187,728 (GRCm39)	L26P	probably damaging	Het
Slc39a5	G	A	10: 128,232,348 (GRCm39)	A484V	probably damaging	Het
Slco4c1	T	A	1: 96,795,672 (GRCm39)	I129F	probably damaging	Het
Tbck	A	T	3: 132,440,106 (GRCm39)		probably null	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Teddm3	A	T	16: 20,971,687 (GRCm39)	V294E	probably damaging	Het
Tent4b	T	A	8: 88,979,023 (GRCm39)	V508D	probably benign	Het
Treml1	A	T	17: 48,667,466 (GRCm39)	H117L	probably damaging	Het
Trip12	G	T	1: 84,771,596 (GRCm39)	T184N	probably benign	Het
Tuba3b	G	T	6: 145,566,954 (GRCm39)	M398I	possibly damaging	Het
Vcam1	T	C	3: 115,910,977 (GRCm39)	I474V	probably benign	Het
Wdsub1	A	C	2: 59,688,977 (GRCm39)	M415R	probably damaging	Het
Zfp14	A	T	7: 29,737,600 (GRCm39)	F462I	probably damaging	Het
Zfp846	G	A	9: 20,505,726 (GRCm39)	V529I	probably benign	Het
Zfp873	A	G	10: 81,896,990 (GRCm39)	T574A	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
R9102:Fbxo39	UTSW	11	72,208,316 (GRCm39)	missense	possibly damaging	0.86
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'- ATCACCTGGCTGTCTATGGC -3'
(R):5'- TCAGACTCGCTACTCACCTG -3'

Sequencing Primer
(F):5'- TATGGCAGCTCCCAGTTCAAC -3'
(R):5'- CTGCAGGGTGTTCCGGAAG -3'

Posted On

2021-10-11