Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Fbxo24'

505911

Institutional Source

Beutler Lab

Gene Symbol

Fbxo24

Ensembl Gene

ENSMUSG00000089984

Gene Name

F-box protein 24

Synonyms

4933422D21Rik, Fbx24

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137610767-137623340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137619543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 111 (F111L)

Ref Sequence

ENSEMBL: ENSMUSP00000106630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031732] [ENSMUST00000111002] [ENSMUST00000136028]

AlphaFold

Q9D417

Predicted Effect

probably damaging
Transcript: ENSMUST00000031732
AA Change: F228L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: F228L

Domain	Start	End	E-Value	Type
FBOX	29	69	1.48e-7	SMART
Pfam:RCC1	386	432	2.2e-10	PFAM
low complexity region	442	455	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111002
AA Change: F111L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: F111L

Domain	Start	End	E-Value	Type
Pfam:RCC1	247	293	4.2e-11	PFAM
low complexity region	303	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136028

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Fbxo24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Fbxo24	APN	5	137,622,563 (GRCm39)	missense	probably damaging	1.00
IGL01872:Fbxo24	APN	5	137,611,987 (GRCm39)	missense	probably damaging	1.00
IGL02066:Fbxo24	APN	5	137,611,132 (GRCm39)	missense	probably damaging	1.00
IGL02078:Fbxo24	APN	5	137,622,611 (GRCm39)	missense	probably damaging	1.00
IGL02330:Fbxo24	APN	5	137,619,579 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Fbxo24	UTSW	5	137,620,164 (GRCm39)	missense	probably damaging	1.00
R0012:Fbxo24	UTSW	5	137,620,256 (GRCm39)	missense	probably damaging	1.00
R0012:Fbxo24	UTSW	5	137,620,256 (GRCm39)	missense	probably damaging	1.00
R0243:Fbxo24	UTSW	5	137,622,819 (GRCm39)	missense	probably damaging	0.98
R0990:Fbxo24	UTSW	5	137,616,701 (GRCm39)	missense	probably damaging	0.99
R1331:Fbxo24	UTSW	5	137,617,891 (GRCm39)	missense	probably damaging	1.00
R2139:Fbxo24	UTSW	5	137,611,327 (GRCm39)	missense	probably damaging	0.99
R5483:Fbxo24	UTSW	5	137,617,002 (GRCm39)	missense	probably damaging	0.99
R5487:Fbxo24	UTSW	5	137,617,094 (GRCm39)	missense	possibly damaging	0.88
R5954:Fbxo24	UTSW	5	137,617,943 (GRCm39)	missense	probably damaging	1.00
R5974:Fbxo24	UTSW	5	137,617,912 (GRCm39)	missense	probably benign	0.12
R6600:Fbxo24	UTSW	5	137,611,135 (GRCm39)	missense	probably damaging	1.00
R7345:Fbxo24	UTSW	5	137,619,523 (GRCm39)	missense	probably damaging	0.99
R7412:Fbxo24	UTSW	5	137,617,885 (GRCm39)	missense	possibly damaging	0.48
R8017:Fbxo24	UTSW	5	137,611,073 (GRCm39)	missense	probably benign
R8775:Fbxo24	UTSW	5	137,611,213 (GRCm39)	missense	possibly damaging	0.62
R8775-TAIL:Fbxo24	UTSW	5	137,611,213 (GRCm39)	missense	possibly damaging	0.62
R9135:Fbxo24	UTSW	5	137,622,526 (GRCm39)	missense	probably benign	0.12
R9357:Fbxo24	UTSW	5	137,611,096 (GRCm39)	missense	probably damaging	0.98
X0064:Fbxo24	UTSW	5	137,619,498 (GRCm39)	missense	probably damaging	1.00
Z1176:Fbxo24	UTSW	5	137,619,665 (GRCm39)	missense	probably damaging	1.00
Z1177:Fbxo24	UTSW	5	137,619,561 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTAGAATGCTCTCTGGAAGACC -3'
(R):5'- ATGATCCACTTGCTCTAGCC -3'

Sequencing Primer
(F):5'- AATGCTCTCTGGAAGACCCCTTTC -3'
(R):5'- AGAGCCTTAGGTCCCCAGACAG -3'

Posted On

2018-02-28