Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Fbxo4'

484547

Institutional Source

Beutler Lab

Gene Symbol

Fbxo4

Ensembl Gene

ENSMUSG00000022184

Gene Name

F-box protein 4

Synonyms

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3965445-3979573 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3965792 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 357 (V357I)

Ref Sequence

ENSEMBL: ENSMUSP00000022791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022791]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022791
AA Change: V357I

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022791
Gene: ENSMUSG00000022184
AA Change: V357I

Domain	Start	End	E-Value	Type
FBOX	60	100	5.57e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148817

Meta Mutation Damage Score

0.0767

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele exhibit increased tumor incidence of lymphoblastic lineage and premature death. Mice homozygous for a different knock-out allele are indistinguishable from wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly damaging	Het

Other mutations in Fbxo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:Fbxo4	APN	15	3965755	nonsense	probably null
IGL01879:Fbxo4	APN	15	3975954	missense	probably damaging	0.99
IGL03070:Fbxo4	APN	15	3977862	missense	possibly damaging	0.63
PIT1430001:Fbxo4	UTSW	15	3979300	missense	probably benign	0.07
R1601:Fbxo4	UTSW	15	3968965	missense	possibly damaging	0.77
R4556:Fbxo4	UTSW	15	3965705	makesense	probably null
R4557:Fbxo4	UTSW	15	3965705	makesense	probably null
R4783:Fbxo4	UTSW	15	3969041	missense	probably benign	0.11
R4784:Fbxo4	UTSW	15	3969041	missense	probably benign	0.11
R4785:Fbxo4	UTSW	15	3969041	missense	probably benign	0.11
R4871:Fbxo4	UTSW	15	3975912	missense	probably damaging	1.00
R5023:Fbxo4	UTSW	15	3977756	splice site	probably null
R5876:Fbxo4	UTSW	15	3977819	missense	probably damaging	1.00
R6423:Fbxo4	UTSW	15	3965792	missense	possibly damaging	0.73
R6481:Fbxo4	UTSW	15	3965734	missense	probably damaging	1.00
R6656:Fbxo4	UTSW	15	3975823	missense	probably damaging	0.99
R6999:Fbxo4	UTSW	15	3977955	missense	probably damaging	1.00
R7505:Fbxo4	UTSW	15	3971421	missense	probably benign	0.09
R7543:Fbxo4	UTSW	15	3977903	missense	probably damaging	1.00
X0028:Fbxo4	UTSW	15	3971451	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAGTAGAAAGGCCTCCTC -3'
(R):5'- AACTTTATATGCCCCAGTACAAGG -3'

Sequencing Primer
(F):5'- GTAGAAAGGCCTCCTCCAGAG -3'
(R):5'- CCAGTACAAGGGAACGCCAG -3'

Posted On

2017-08-11