Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Fbxo15'

562595

Institutional Source

Beutler Lab

Gene Symbol

Fbxo15

Ensembl Gene

ENSMUSG00000034391

Gene Name

F-box protein 15

Synonyms

ecat3, Fbx15

MMRRC Submission

045303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84952907-84999598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84980747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 241 (Y241H)

Ref Sequence

ENSEMBL: ENSMUSP00000045925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037718] [ENSMUST00000224467] [ENSMUST00000225015] [ENSMUST00000225445]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037718
AA Change: Y241H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391
AA Change: Y241H

Domain	Start	End	E-Value	Type
low complexity region	35	42	N/A	INTRINSIC
FBOX	46	86	3.4e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224467
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225015

Predicted Effect

probably damaging
Transcript: ENSMUST00000225445
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1796

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Both male and female homozygous null mice develop normally and are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Gbe1	T	C	16: 70,233,828 (GRCm39)	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Hgfac	G	T	5: 35,204,258 (GRCm39)	R507L	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Ldha	T	C	7: 46,500,323 (GRCm39)	Y174H	probably benign	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,477 (GRCm39)	D103G	probably damaging	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Pias2	A	G	18: 77,220,931 (GRCm39)	S396G	probably benign	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	probably benign	Het

Other mutations in Fbxo15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Fbxo15	APN	18	84,977,225 (GRCm39)	missense	probably damaging	1.00
IGL01375:Fbxo15	APN	18	84,976,404 (GRCm39)	missense	possibly damaging	0.64
IGL01730:Fbxo15	APN	18	84,982,299 (GRCm39)	missense	probably benign	0.38
IGL01807:Fbxo15	APN	18	84,999,506 (GRCm39)	utr 3 prime	probably benign
IGL02220:Fbxo15	APN	18	84,982,317 (GRCm39)	critical splice donor site	probably null
IGL02255:Fbxo15	APN	18	84,982,321 (GRCm39)	splice site	probably null
IGL02435:Fbxo15	APN	18	84,977,351 (GRCm39)	missense	probably damaging	0.97
IGL02546:Fbxo15	APN	18	84,980,847 (GRCm39)	critical splice donor site	probably null
IGL03099:Fbxo15	APN	18	84,999,338 (GRCm39)	missense	possibly damaging	0.87
R0346:Fbxo15	UTSW	18	84,978,346 (GRCm39)	critical splice donor site	probably null
R1606:Fbxo15	UTSW	18	84,980,745 (GRCm39)	missense	possibly damaging	0.93
R1671:Fbxo15	UTSW	18	84,977,231 (GRCm39)	missense	possibly damaging	0.73
R2113:Fbxo15	UTSW	18	84,977,230 (GRCm39)	missense	probably benign	0.00
R3962:Fbxo15	UTSW	18	84,977,372 (GRCm39)	missense	probably benign	0.02
R4064:Fbxo15	UTSW	18	84,977,243 (GRCm39)	missense	probably damaging	0.96
R5523:Fbxo15	UTSW	18	84,978,194 (GRCm39)	missense	probably damaging	1.00
R5931:Fbxo15	UTSW	18	84,999,250 (GRCm39)	missense	probably damaging	0.96
R6235:Fbxo15	UTSW	18	84,999,029 (GRCm39)	intron	probably benign
R6349:Fbxo15	UTSW	18	84,982,267 (GRCm39)	missense	probably benign	0.01
R6607:Fbxo15	UTSW	18	84,977,270 (GRCm39)	missense	possibly damaging	0.88
R7325:Fbxo15	UTSW	18	84,977,243 (GRCm39)	missense	probably damaging	0.96
R7519:Fbxo15	UTSW	18	84,982,359 (GRCm39)	unclassified	probably benign
R7671:Fbxo15	UTSW	18	84,982,278 (GRCm39)	missense	probably damaging	1.00
R8094:Fbxo15	UTSW	18	84,983,618 (GRCm39)	missense	probably benign	0.34
R8365:Fbxo15	UTSW	18	84,980,739 (GRCm39)	missense	probably damaging	1.00
R8494:Fbxo15	UTSW	18	84,982,252 (GRCm39)	missense	probably damaging	1.00
R8809:Fbxo15	UTSW	18	84,978,200 (GRCm39)	missense	possibly damaging	0.94
R9072:Fbxo15	UTSW	18	84,983,645 (GRCm39)	missense	possibly damaging	0.88
R9073:Fbxo15	UTSW	18	84,983,645 (GRCm39)	missense	possibly damaging	0.88
R9342:Fbxo15	UTSW	18	84,983,609 (GRCm39)	missense	unknown
R9386:Fbxo15	UTSW	18	84,977,372 (GRCm39)	missense	probably benign	0.22
R9409:Fbxo15	UTSW	18	84,977,246 (GRCm39)	missense	possibly damaging	0.91
R9549:Fbxo15	UTSW	18	84,980,805 (GRCm39)	missense	possibly damaging	0.56
X0022:Fbxo15	UTSW	18	84,978,244 (GRCm39)	missense	probably benign	0.00
Z1177:Fbxo15	UTSW	18	84,976,433 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGCTCTCAGAGGAAGGGG -3'
(R):5'- CATTCAGTCTGATATGCAGGGTG -3'

Sequencing Primer
(F):5'- CTCTCAGAGGAAGGGGAAGAAAAAC -3'
(R):5'- TGCAAGCATGGGACTGTG -3'

Posted On

2019-06-26