Mutagenetix > Incidental Mutations

Incidental Mutation 'R0815:Fbxo21'

78565

Institutional Source

Beutler Lab

Gene Symbol

Fbxo21

Ensembl Gene

ENSMUSG00000032898

Gene Name

F-box protein 21

Synonyms

MMRRC Submission

038995-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R0815 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

117976730-118010201 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 117995508 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035579] [ENSMUST00000202447]

Predicted Effect

probably benign
Transcript: ENSMUST00000035579

SMART Domains

Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
Blast:FBOX	33	73	6e-8	BLAST
Pfam:Transglut_core2	215	390	3e-43	PFAM
low complexity region	482	491	N/A	INTRINSIC
YccV-like	500	597	8.22e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201611

Predicted Effect

probably benign
Transcript: ENSMUST00000202447

SMART Domains

Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898

Domain	Start	End	E-Value	Type
low complexity region	15	24	N/A	INTRINSIC
Blast:FBOX	33	73	6e-8	BLAST
Pfam:Transglut_core2	215	390	3e-43	PFAM
low complexity region	482	491	N/A	INTRINSIC
YccV-like	500	597	8.22e-39	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.5%
20x: 91.3%

Validation Efficiency

97% (58/60)

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 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. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,351,087	I88L	possibly damaging	Het
Abcb5	A	G	12: 118,901,449		probably benign	Het
Abcf2	A	T	5: 24,567,270	Y487N	probably damaging	Het
Adcy4	T	C	14: 55,783,599	Y27C	probably damaging	Het
Atp2a2	T	C	5: 122,471,236	I188V	probably benign	Het
Cacna1s	A	T	1: 136,112,957	I1231F	possibly damaging	Het
Capn7	T	A	14: 31,369,757	C704S	possibly damaging	Het
Celsr2	G	T	3: 108,401,301	T1770K	possibly damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cul9	T	C	17: 46,537,822		probably null	Het
Dpp10	A	G	1: 123,432,929		probably null	Het
Dscaml1	A	G	9: 45,745,074	I1571V	probably benign	Het
Eif3j2	T	A	18: 43,476,971	Y259F	probably benign	Het
Erc2	A	C	14: 28,025,148	N345T	probably benign	Het
Frmd8	A	T	19: 5,865,056		probably benign	Het
Gfm1	T	C	3: 67,474,595	S705P	probably damaging	Het
Gucy1b2	T	C	14: 62,419,062	D282G	probably benign	Het
H2-Ab1	T	C	17: 34,267,354	I129T	probably damaging	Het
H2-M10.3	T	A	17: 36,366,690	Y232F	probably damaging	Het
Lipm	A	T	19: 34,118,761	T326S	probably benign	Het
Lrrc8c	T	C	5: 105,608,534	L725P	probably damaging	Het
Map3k19	A	G	1: 127,834,638		probably benign	Het
Med31	T	A	11: 72,213,831	N50I	probably damaging	Het
Mgea5	C	T	19: 45,782,986	A49T	probably benign	Het
Myo15b	T	G	11: 115,866,336		probably benign	Het
Nemp1	T	C	10: 127,693,024	L199S	probably damaging	Het
Nod2	G	A	8: 88,672,662		probably benign	Het
Olfr1444	A	G	19: 12,862,644	I290V	probably benign	Het
Olfr319	A	G	11: 58,702,609	R303G	possibly damaging	Het
Parva	G	A	7: 112,567,864	V215M	probably damaging	Het
Phf1	T	C	17: 26,937,140		probably benign	Het
Ppp1r12c	G	T	7: 4,486,366	Q240K	probably damaging	Het
Ralgapa1	A	T	12: 55,762,681	Y436*	probably null	Het
Ralgapa1	C	A	12: 55,782,777		probably benign	Het
Rbm11	C	T	16: 75,596,637	R74C	probably damaging	Het
Robo3	A	G	9: 37,422,183	V744A	probably damaging	Het
Rsbn1	T	G	3: 103,954,153	S522A	probably damaging	Het
Scel	T	A	14: 103,586,480	S381R	possibly damaging	Het
Sec31b	G	A	19: 44,518,173	Q909*	probably null	Het
Slc38a11	T	A	2: 65,353,780	I176L	possibly damaging	Het
Slc39a4	C	T	15: 76,612,639	D574N	probably damaging	Het
Slc44a1	T	G	4: 53,536,421	V199G	possibly damaging	Het
Sltm	A	G	9: 70,561,908	T150A	probably benign	Het
Son	C	A	16: 91,655,484	A373D	probably damaging	Het
Sp140	C	T	1: 85,620,051		probably benign	Het
Speg	A	G	1: 75,415,392	Y1606C	probably damaging	Het
Srgap1	A	T	10: 121,785,474	V1061D	probably damaging	Het
Stat5a	A	G	11: 100,875,082		probably null	Het
Supt4a	T	A	11: 87,737,583		probably benign	Het
Teddm1b	A	G	1: 153,874,892	K149R	possibly damaging	Het
Thnsl2	A	T	6: 71,134,224	L220*	probably null	Het
Tinf2	G	A	14: 55,680,109	P308S	probably benign	Het
Tmem131l	A	G	3: 83,940,572	S329P	probably benign	Het
Tnf	T	C	17: 35,201,144		probably benign	Het
Upp2	A	G	2: 58,771,556	T144A	probably benign	Het
Vmn2r94	T	G	17: 18,257,711	Q146P	probably damaging	Het
Zfhx4	T	A	3: 5,245,315	S919R	possibly damaging	Het

Other mutations in Fbxo21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Fbxo21	APN	5	117988790	missense	probably benign	0.04
IGL02131:Fbxo21	APN	5	118002090	missense	possibly damaging	0.76
IGL02156:Fbxo21	APN	5	117994668	splice site	probably benign
IGL02195:Fbxo21	APN	5	118002154	missense	probably damaging	1.00
IGL02702:Fbxo21	APN	5	118000510	missense	probably damaging	1.00
PIT1430001:Fbxo21	UTSW	5	117977866	missense	possibly damaging	0.68
R0008:Fbxo21	UTSW	5	118008013	missense	possibly damaging	0.63
R0055:Fbxo21	UTSW	5	118000490	missense	probably benign	0.12
R0055:Fbxo21	UTSW	5	118000490	missense	probably benign	0.12
R0089:Fbxo21	UTSW	5	118008143	missense	probably benign
R0101:Fbxo21	UTSW	5	117995456	missense	probably damaging	1.00
R0866:Fbxo21	UTSW	5	117977033	missense	probably benign	0.01
R1673:Fbxo21	UTSW	5	118008064	missense	probably benign	0.27
R2048:Fbxo21	UTSW	5	118008104	missense	probably damaging	1.00
R2063:Fbxo21	UTSW	5	117976966	missense	probably benign	0.45
R2161:Fbxo21	UTSW	5	117995386	missense	probably damaging	1.00
R2224:Fbxo21	UTSW	5	118008123	missense	probably damaging	1.00
R3872:Fbxo21	UTSW	5	118000329	missense	possibly damaging	0.70
R4750:Fbxo21	UTSW	5	118000468	missense	probably benign	0.10
R5807:Fbxo21	UTSW	5	117976868	missense	probably benign	0.01
R6075:Fbxo21	UTSW	5	117988883	missense	probably damaging	0.97
R6528:Fbxo21	UTSW	5	118000356	missense	probably benign	0.25
R7494:Fbxo21	UTSW	5	118000323	missense	possibly damaging	0.86
R7498:Fbxo21	UTSW	5	118002174	critical splice donor site	probably null
R7801:Fbxo21	UTSW	5	117986124	missense	probably damaging	0.96
R7857:Fbxo21	UTSW	5	117988813	missense	probably benign	0.21
R7944:Fbxo21	UTSW	5	118008147	missense	possibly damaging	0.89
R7945:Fbxo21	UTSW	5	118008147	missense	possibly damaging	0.89
R8116:Fbxo21	UTSW	5	117990854	missense	possibly damaging	0.70
R8354:Fbxo21	UTSW	5	117995414	missense	probably damaging	1.00
R8454:Fbxo21	UTSW	5	117995414	missense	probably damaging	1.00
Z1177:Fbxo21	UTSW	5	117989171	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGGTCTGGGAATCGGAAACCTTG -3'
(R):5'- AGCATTGAGCACCTGTCTTGCC -3'

Sequencing Primer
(F):5'- TTGTAGACTTCCACTGAGAAAGCC -3'
(R):5'- ACCAACAGGCATTTCTGGTG -3'

Posted On

2013-10-16