Mutagenetix > Incidental Mutation

Incidental Mutation 'R2139:Fbxo24'

236036

Institutional Source

Beutler Lab

Gene Symbol

Fbxo24

Ensembl Gene

ENSMUSG00000089984

Gene Name

F-box protein 24

Synonyms

4933422D21Rik, Fbx24

MMRRC Submission

040142-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2139 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

137610767-137623340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137611327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 488 (S488T)

Ref Sequence

ENSEMBL: ENSMUSP00000031732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031731] [ENSMUST00000031732] [ENSMUST00000054564] [ENSMUST00000111002] [ENSMUST00000124693] [ENSMUST00000197912] [ENSMUST00000136028] [ENSMUST00000155251] [ENSMUST00000142675]

AlphaFold

Q9D417

Predicted Effect

probably benign
Transcript: ENSMUST00000031731

SMART Domains

Protein: ENSMUSP00000031731
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CUB	36	148	3.79e-43	SMART
CUB	158	272	3e-46	SMART
low complexity region	299	314	N/A	INTRINSIC
low complexity region	323	338	N/A	INTRINSIC
C345C	352	458	3.92e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000031732
AA Change: S488T

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

SMART Domains

Protein: ENSMUSP00000031732
Gene: ENSMUSG00000089984
AA Change: S488T

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 benign
Transcript: ENSMUST00000054564

SMART Domains

Protein: ENSMUSP00000057002
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
CUB	36	148	3.79e-43	SMART
CUB	183	297	3e-46	SMART
low complexity region	324	339	N/A	INTRINSIC
low complexity region	348	363	N/A	INTRINSIC
C345C	377	483	3.92e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111002
AA Change: S349T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106630
Gene: ENSMUSG00000089984
AA Change: S349T

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: ENSMUST00000124693

SMART Domains

Protein: ENSMUSP00000120749
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
Pfam:CUB	1	63	2.4e-12	PFAM
Pfam:CUB	76	124	3.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131703

Predicted Effect

probably benign
Transcript: ENSMUST00000197912

SMART Domains

Protein: ENSMUSP00000142608
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
CUB	1	107	2.2e-36	SMART
C345C	130	236	1.3e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136028

Predicted Effect

probably benign
Transcript: ENSMUST00000155251

SMART Domains

Protein: ENSMUSP00000121575
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
CUB	8	111	1.92e-21	SMART
Pfam:CUB	121	169	1.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142675

SMART Domains

Protein: ENSMUSP00000115654
Gene: ENSMUSG00000029718

Domain	Start	End	E-Value	Type
CUB	18	130	3.79e-43	SMART
CUB	140	214	2.16e-6	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,593 (GRCm39)	F318I	probably damaging	Het
Bfsp2	T	C	9: 103,327,074 (GRCm39)	K221R	probably benign	Het
Cacna1b	A	C	2: 24,569,485 (GRCm39)	M813R	probably benign	Het
Chaf1a	T	C	17: 56,372,226 (GRCm39)	L798P	probably damaging	Het
Chd8	G	A	14: 52,474,428 (GRCm39)	T201I	probably benign	Het
Col23a1	T	C	11: 51,464,861 (GRCm39)	S436P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Cyp4f39	A	G	17: 32,710,163 (GRCm39)	I440M	probably benign	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dlg5	T	C	14: 24,220,612 (GRCm39)	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,616,506 (GRCm39)	M170L	probably benign	Het
Dop1b	T	C	16: 93,567,895 (GRCm39)	S1441P	possibly damaging	Het
Efcab3	C	T	11: 104,642,737 (GRCm39)	T1120I	possibly damaging	Het
Egr2	T	A	10: 67,376,702 (GRCm39)	S383T	probably damaging	Het
Elovl1	A	G	4: 118,288,303 (GRCm39)	D94G	probably damaging	Het
Erbb4	A	G	1: 68,385,788 (GRCm39)	V267A	probably damaging	Het
Esp38	T	A	17: 40,264,275 (GRCm39)	I11N	probably damaging	Het
Esrrb	T	C	12: 86,468,740 (GRCm39)		probably null	Het
Fgfr1	T	G	8: 26,060,882 (GRCm39)	V618G	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gpr61	A	T	3: 108,058,077 (GRCm39)	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011 (GRCm39)	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,540,788 (GRCm39)	F274L	probably benign	Het
Hoxc10	A	T	15: 102,875,912 (GRCm39)	Q207L	probably benign	Het
Hspa12a	A	G	19: 58,787,914 (GRCm39)	V636A	probably benign	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Kif13a	T	C	13: 46,905,945 (GRCm39)	D666G	possibly damaging	Het
Krt86	A	T	15: 101,371,639 (GRCm39)	I70F	probably benign	Het
Lgi4	A	T	7: 30,762,548 (GRCm39)	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,754,558 (GRCm39)	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,862,753 (GRCm39)	N600S	probably damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mroh5	T	A	15: 73,661,940 (GRCm39)	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mtarc1	G	A	1: 184,527,632 (GRCm39)	T276I	probably benign	Het
Muc4	T	A	16: 32,581,599 (GRCm39)	I2488N	unknown	Het
Myrf	C	G	19: 10,193,831 (GRCm39)	A532P	probably damaging	Het
Nav3	T	C	10: 109,688,996 (GRCm39)	N427S	probably benign	Het
Neb	T	C	2: 52,102,600 (GRCm39)	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,218,983 (GRCm39)	D335G	probably damaging	Het
Olfm4	T	C	14: 80,251,755 (GRCm39)	L225P	probably benign	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or4c104	T	A	2: 88,586,437 (GRCm39)	N194I	probably damaging	Het
Or51ac3	A	T	7: 103,213,961 (GRCm39)	I175K	possibly damaging	Het
Or8s2	T	C	15: 98,276,145 (GRCm39)	N282S	probably damaging	Het
Pcdhac2	T	G	18: 37,279,139 (GRCm39)	Y706*	probably null	Het
Pgbd1	A	G	13: 21,607,190 (GRCm39)	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,393,214 (GRCm39)	I1850L	possibly damaging	Het
Pogz	T	C	3: 94,778,318 (GRCm39)	V304A	possibly damaging	Het
Rap1a	T	C	3: 105,646,856 (GRCm39)	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,194,123 (GRCm39)	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,281,022 (GRCm39)	F8S	possibly damaging	Het
St18	T	G	1: 6,880,839 (GRCm39)	M444R	possibly damaging	Het
Syna	G	T	5: 134,588,106 (GRCm39)	S281*	probably null	Het
Tgm1	A	G	14: 55,947,000 (GRCm39)	V336A	probably damaging	Het
Tle6	G	T	10: 81,429,868 (GRCm39)	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,348,481 (GRCm39)	W328R	probably damaging	Het
Trim7	T	C	11: 48,729,721 (GRCm39)	F193L	probably benign	Het
Txndc16	A	T	14: 45,410,046 (GRCm39)	M178K	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,581,243 (GRCm39)	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,446,890 (GRCm39)	K421*	probably null	Het
Vwa7	T	G	17: 35,242,406 (GRCm39)	S503R	probably benign	Het
Washc5	G	A	15: 59,221,991 (GRCm39)	T135M	probably damaging	Het
Wdr6	T	C	9: 108,451,322 (GRCm39)	I854V	probably benign	Het
Zfp507	A	G	7: 35,493,148 (GRCm39)	C632R	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
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
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'- CTTTCTGGGCAGCCATCAAG -3'
(R):5'- CTGGAACATAGCAAGCTGAAGC -3'

Sequencing Primer
(F):5'- CCATCAAGGGCATCCAGC -3'
(R):5'- TGAAGCTCACTTGCTGGC -3'

Posted On

2014-10-01