Mutagenetix > Incidental Mutation

Incidental Mutation 'R7345:Fbxo24'

570139

Institutional Source

Beutler Lab

Gene Symbol

Fbxo24

Ensembl Gene

ENSMUSG00000089984

Gene Name

F-box protein 24

Synonyms

4933422D21Rik, Fbx24

MMRRC Submission

045379-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137610767-137623340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 137619523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 234 (F234L)

Ref Sequence

ENSEMBL: ENSMUSP00000031732 (fasta)

Gene Model

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

AlphaFold

Q9D417

Predicted Effect

probably damaging
Transcript: ENSMUST00000031732
AA Change: F234L

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

SMART Domains

Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: F234L

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: F117L

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

SMART Domains

Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: F117L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,773,774 (GRCm39)	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,357,304 (GRCm39)	R934Q	possibly damaging	Het
Atad5	T	C	11: 79,986,832 (GRCm39)	S640P	probably damaging	Het
B3galnt2	C	T	13: 14,155,065 (GRCm39)		probably null	Het
B430305J03Rik	T	C	3: 61,271,539 (GRCm39)	S69G	unknown	Het
Cd163	A	T	6: 124,295,897 (GRCm39)	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,817 (GRCm39)	S906P	probably damaging	Het
Cimip2b	T	C	4: 43,428,022 (GRCm39)	D145G	possibly damaging	Het
Cyp4f39	G	A	17: 32,705,753 (GRCm39)	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,059,129 (GRCm39)	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583 (GRCm39)	L139P	probably damaging	Het
Dcc	A	G	18: 71,511,895 (GRCm39)	V840A	probably benign	Het
Dnhd1	A	T	7: 105,353,174 (GRCm39)	I2776L	probably benign	Het
Gm21190	T	C	5: 15,732,902 (GRCm39)		probably null	Het
Grhl3	C	T	4: 135,273,557 (GRCm39)	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,244,842 (GRCm39)	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,146,693 (GRCm39)	R133S	probably benign	Het
Ipo4	C	T	14: 55,872,988 (GRCm39)	R23Q	probably benign	Het
Klc3	G	A	7: 19,128,814 (GRCm39)	T481M	probably benign	Het
Map2k6	A	T	11: 110,383,734 (GRCm39)	I127F		Het
Mapk8	A	T	14: 33,130,068 (GRCm39)	N63K	probably damaging	Het
Med13l	T	C	5: 118,880,825 (GRCm39)	W1306R	probably damaging	Het
Megf6	C	A	4: 154,351,772 (GRCm39)	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,841,095 (GRCm39)	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,508,308 (GRCm39)	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503 (GRCm38)	F838L	probably benign	Het
Nrm	A	G	17: 36,175,476 (GRCm39)	H194R	probably damaging	Het
Nup188	T	C	2: 30,230,613 (GRCm39)	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,850,139 (GRCm39)	D618E	probably damaging	Het
Or5p78	C	T	7: 108,212,270 (GRCm39)	T252I	probably benign	Het
Or8g23	A	G	9: 38,971,875 (GRCm39)	L29P	probably damaging	Het
Or8g24	G	A	9: 38,989,630 (GRCm39)	S137F	probably damaging	Het
Or9s18	A	C	13: 65,300,557 (GRCm39)	N173T	possibly damaging	Het
P2ry1	T	C	3: 60,911,095 (GRCm39)	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,624,976 (GRCm39)	F769L	probably benign	Het
Poc5	A	G	13: 96,533,304 (GRCm39)	E144G	probably damaging	Het
Pole	T	A	5: 110,451,769 (GRCm39)	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,496,966 (GRCm39)	F1159L	possibly damaging	Het
Pramel32	T	C	4: 88,546,416 (GRCm39)	K309E	possibly damaging	Het
Rubcnl	A	G	14: 75,279,793 (GRCm39)	Y392C	probably benign	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Serpinh1	A	C	7: 98,995,563 (GRCm39)	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,530,085 (GRCm39)		probably null	Het
Soat2	A	G	15: 102,071,013 (GRCm39)	D469G	probably benign	Het
Speg	T	C	1: 75,361,479 (GRCm39)	L70P	probably damaging	Het
Spred2	T	C	11: 19,874,958 (GRCm39)		probably null	Het
Stac2	A	C	11: 97,933,439 (GRCm39)	S168A	probably damaging	Het
Stx1a	T	A	5: 135,066,042 (GRCm39)	D31E	probably benign	Het
Timeless	C	T	10: 128,085,623 (GRCm39)	T885M	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,698,614 (GRCm39)	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966 (GRCm39)	V1598A	unknown	Het
Zfat	A	T	15: 67,976,892 (GRCm39)	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,150,522 (GRCm39)	H296Y	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
R6250:Fbxo24	UTSW	5	137,619,543 (GRCm39)	missense	probably damaging	1.00
R6600:Fbxo24	UTSW	5	137,611,135 (GRCm39)	missense	probably damaging	1.00
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'- TGCGAATTCTAGAACTTTTGCGG -3'
(R):5'- CCAGACAGCATCATCTTGTCC -3'

Sequencing Primer
(F):5'- CTAGAACTTTTGCGGTTGAGAGCAG -3'
(R):5'- AGTTTGCGTCCGACCCAAG -3'

Posted On

2019-09-13