Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Fbxo24'

471045

Institutional Source

Beutler Lab

Gene Symbol

Fbxo24

Ensembl Gene

ENSMUSG00000089984

Gene Name

F-box protein 24

Synonyms

4933422D21Rik, Fbx24

MMRRC Submission

044143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137610767-137623340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137617943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 274 (T274S)

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: T274S

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

SMART Domains

Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: T274S

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

possibly damaging
Transcript: ENSMUST00000111002
AA Change: T157S

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: T157S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117679

Predicted Effect

probably benign
Transcript: ENSMUST00000136028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196660

Meta Mutation Damage Score

0.0769

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,390 (GRCm39)	I944T	probably benign	Het
Ank2	T	C	3: 126,791,510 (GRCm39)	T823A	probably benign	Het
Ankrd42	C	G	7: 92,273,175 (GRCm39)		probably null	Het
Anks4b	T	A	7: 119,781,396 (GRCm39)	N142K	possibly damaging	Het
Armc5	A	G	7: 127,841,444 (GRCm39)	E484G	probably benign	Het
B4galnt3	A	G	6: 120,202,149 (GRCm39)	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,374,151 (GRCm39)	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,602,175 (GRCm39)	F1555S	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Chd6	A	C	2: 160,807,747 (GRCm39)	H1822Q	probably benign	Het
Chdh	C	T	14: 29,753,138 (GRCm39)	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,762,221 (GRCm39)	D431G	probably damaging	Het
Dock8	G	A	19: 25,148,983 (GRCm39)	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,460,079 (GRCm39)	V116D	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,258,748 (GRCm39)	L257P	probably damaging	Het
Gm20402	C	T	3: 52,176,311 (GRCm39)	P30L	probably damaging	Het
Gm7932	C	T	6: 48,839,793 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,767 (GRCm39)	D590E	unknown	Het
Herc1	T	G	9: 66,358,774 (GRCm39)		probably benign	Het
Hsd3b2	T	A	3: 98,618,875 (GRCm39)	I357F	probably benign	Het
Ipo5	A	G	14: 121,157,396 (GRCm39)	Y78C	probably damaging	Het
Itga8	C	A	2: 12,137,297 (GRCm39)	A23S	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat2a	A	G	11: 100,599,724 (GRCm39)	V451A	possibly damaging	Het
Knstrn	A	G	2: 118,661,436 (GRCm39)		probably benign	Het
Med23	A	G	10: 24,746,381 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,533,579 (GRCm39)	Y231H	probably benign	Het
Or4d10	A	T	19: 12,051,447 (GRCm39)	I183N	possibly damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Or5p69	T	A	7: 107,966,808 (GRCm39)	I37N	probably damaging	Het
Or8g21	A	G	9: 38,906,711 (GRCm39)	S7P	probably damaging	Het
Pak5	G	T	2: 135,958,383 (GRCm39)	T235K	probably benign	Het
Plppr3	G	T	10: 79,701,960 (GRCm39)	P294Q	probably benign	Het
Prepl	A	G	17: 85,372,077 (GRCm39)	F725L	probably benign	Het
Ptchd3	A	T	11: 121,727,413 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,672,175 (GRCm39)	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,381,428 (GRCm39)	E352*	probably null	Het
Sccpdh	T	A	1: 179,508,153 (GRCm39)	H14Q	probably benign	Het
Senp7	A	G	16: 55,990,234 (GRCm39)	I661V	probably benign	Het
Septin3	T	C	15: 82,174,628 (GRCm39)	F140L	probably damaging	Het
Spag6	G	T	2: 18,715,417 (GRCm39)	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,522,539 (GRCm39)	R137H	probably damaging	Het
Trank1	A	G	9: 111,194,201 (GRCm39)	S742G	probably benign	Het
Ucn3	T	C	13: 3,991,413 (GRCm39)	I80V	probably benign	Het
Ulk2	A	T	11: 61,694,622 (GRCm39)		probably benign	Het
Uncx	C	T	5: 139,533,384 (GRCm39)	S483L	probably benign	Het
Vps39	A	G	2: 120,155,143 (GRCm39)	V550A	probably damaging	Het
Zfp697	C	A	3: 98,335,909 (GRCm39)	T558K	probably damaging	Het
Zfp790	G	T	7: 29,528,929 (GRCm39)	G538V	probably damaging	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
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
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'- ACAAGTTTACAGGGACCCGG -3'
(R):5'- ACTTTACTCTAGGGCAGGCAG -3'

Sequencing Primer
(F):5'- CTGGGGGCTTGAATTTATCCTCAAC -3'
(R):5'- CAGCGTTTCTGTTGAGTGTCCC -3'

Posted On

2017-03-31