Mutagenetix > Incidental Mutation

Incidental Mutation 'R6528:Fbxo21'

522060

Institutional Source

Beutler Lab

Gene Symbol

Fbxo21

Ensembl Gene

ENSMUSG00000032898

Gene Name

F-box protein 21

Synonyms

2810425J22Rik

MMRRC Submission

044654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R6528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118114835-118148263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118138421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 449 (H449N)

Ref Sequence

ENSEMBL: ENSMUSP00000035506 (fasta)

Gene Model

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

AlphaFold

Q8VDH1

Predicted Effect

probably benign
Transcript: ENSMUST00000035579
AA Change: H449N

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: H449N

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

unknown
Transcript: ENSMUST00000201611
AA Change: H332N

Predicted Effect

probably benign
Transcript: ENSMUST00000202447
AA Change: H456N

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: H456N

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,596 (GRCm39)	R286H	possibly damaging	Het
Arhgap29	T	A	3: 121,808,351 (GRCm39)	N1176K	probably benign	Het
Cacfd1	T	G	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Ccnj	C	A	19: 40,820,529 (GRCm39)		probably null	Het
Chad	A	G	11: 94,456,450 (GRCm39)	Y176C	probably damaging	Het
Chd5	T	C	4: 152,441,133 (GRCm39)	L191P	probably damaging	Het
Cmtm1	T	C	8: 105,035,927 (GRCm39)	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,377,241 (GRCm39)	A449T	probably damaging	Het
Eml5	T	C	12: 98,790,896 (GRCm39)	E1334G	probably benign	Het
Endou	C	T	15: 97,617,510 (GRCm39)	E147K	probably damaging	Het
Fkbp15	A	G	4: 62,250,507 (GRCm39)	I363T	probably damaging	Het
Gm12887	C	A	4: 121,472,834 (GRCm39)	G103C	probably damaging	Het
Gm14410	T	A	2: 176,885,301 (GRCm39)	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Irgm2	C	T	11: 58,110,878 (GRCm39)	P202S	probably benign	Het
Khsrp	G	A	17: 57,330,543 (GRCm39)	T551I	probably damaging	Het
Lpin2	T	A	17: 71,551,000 (GRCm39)	I720N	probably damaging	Het
Lypd8	G	A	11: 58,275,439 (GRCm39)	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780 (GRCm39)	L1952F	probably damaging	Het
Med13	G	A	11: 86,189,780 (GRCm39)	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,380,317 (GRCm39)	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,479,819 (GRCm39)	R654C	probably damaging	Het
Or10a3m	T	C	7: 108,312,638 (GRCm39)	L14P	probably damaging	Het
Or12j3	G	T	7: 139,953,354 (GRCm39)	H56Q	possibly damaging	Het
Or13a22	A	G	7: 140,072,964 (GRCm39)	M138V	probably damaging	Het
Or8k35	T	C	2: 86,424,809 (GRCm39)	D121G	probably damaging	Het
Pcdhb6	A	G	18: 37,467,556 (GRCm39)	D159G	probably damaging	Het
Plec	T	C	15: 76,058,630 (GRCm39)	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,896,633 (GRCm39)	D236N	probably damaging	Het
Pnma1	T	A	12: 84,194,197 (GRCm39)	I169F	probably benign	Het
Ppl	T	A	16: 4,905,480 (GRCm39)	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,821,403 (GRCm39)	M252L	probably benign	Het
Pramel29	A	G	4: 143,935,381 (GRCm39)	V120A	probably damaging	Het
Prickle4	T	A	17: 48,000,258 (GRCm39)	R246*	probably null	Het
Rad50	G	A	11: 53,543,109 (GRCm39)	T1235I	probably damaging	Het
Ranbp10	T	C	8: 106,506,588 (GRCm39)	N244S	probably damaging	Het
Robo4	T	C	9: 37,315,664 (GRCm39)	S306P	possibly damaging	Het
Shox2	C	A	3: 66,888,618 (GRCm39)	R91L	probably benign	Het
Tbx5	A	G	5: 120,021,176 (GRCm39)	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,145,258 (GRCm39)	N74S	probably benign	Het
Tgif1	G	A	17: 71,153,555 (GRCm39)		probably benign	Het
Tmem128	T	A	5: 38,423,843 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,956 (GRCm39)	S511P	probably damaging	Het
Trps1	A	G	15: 50,685,823 (GRCm39)	I114T	probably benign	Het
Ttll8	G	T	15: 88,798,441 (GRCm39)	Q765K	probably benign	Het
Usp17ld	A	T	7: 102,899,962 (GRCm39)	D323E	probably damaging	Het
Vmn1r232	G	A	17: 21,134,309 (GRCm39)	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,493,684 (GRCm39)	R87S	probably benign	Het
Vps26b	C	G	9: 26,921,762 (GRCm39)	E254D	probably benign	Het
Vps8	C	A	16: 21,372,875 (GRCm39)	Y113*	probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xcr1	A	T	9: 123,685,048 (GRCm39)	I238N	probably damaging	Het
Zar1l	T	A	5: 150,430,595 (GRCm39)	E272V	probably damaging	Het
Zfp451	A	G	1: 33,816,862 (GRCm39)	Y146H	probably damaging	Het
Zfp54	G	T	17: 21,653,736 (GRCm39)	E77*	probably null	Het

Other mutations in Fbxo21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Fbxo21	APN	5	118,126,855 (GRCm39)	missense	probably benign	0.04
IGL02131:Fbxo21	APN	5	118,140,155 (GRCm39)	missense	possibly damaging	0.76
IGL02156:Fbxo21	APN	5	118,132,733 (GRCm39)	splice site	probably benign
IGL02195:Fbxo21	APN	5	118,140,219 (GRCm39)	missense	probably damaging	1.00
IGL02702:Fbxo21	APN	5	118,138,575 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Fbxo21	UTSW	5	118,115,931 (GRCm39)	missense	possibly damaging	0.68
R0008:Fbxo21	UTSW	5	118,146,078 (GRCm39)	missense	possibly damaging	0.63
R0055:Fbxo21	UTSW	5	118,138,555 (GRCm39)	missense	probably benign	0.12
R0055:Fbxo21	UTSW	5	118,138,555 (GRCm39)	missense	probably benign	0.12
R0089:Fbxo21	UTSW	5	118,146,208 (GRCm39)	missense	probably benign
R0101:Fbxo21	UTSW	5	118,133,521 (GRCm39)	missense	probably damaging	1.00
R0815:Fbxo21	UTSW	5	118,133,573 (GRCm39)	splice site	probably benign
R0866:Fbxo21	UTSW	5	118,115,098 (GRCm39)	missense	probably benign	0.01
R1673:Fbxo21	UTSW	5	118,146,129 (GRCm39)	missense	probably benign	0.27
R2048:Fbxo21	UTSW	5	118,146,169 (GRCm39)	missense	probably damaging	1.00
R2063:Fbxo21	UTSW	5	118,115,031 (GRCm39)	missense	probably benign	0.45
R2161:Fbxo21	UTSW	5	118,133,451 (GRCm39)	missense	probably damaging	1.00
R2224:Fbxo21	UTSW	5	118,146,188 (GRCm39)	missense	probably damaging	1.00
R3872:Fbxo21	UTSW	5	118,138,394 (GRCm39)	missense	possibly damaging	0.70
R4750:Fbxo21	UTSW	5	118,138,533 (GRCm39)	missense	probably benign	0.10
R5807:Fbxo21	UTSW	5	118,114,933 (GRCm39)	missense	probably benign	0.01
R6075:Fbxo21	UTSW	5	118,126,948 (GRCm39)	missense	probably damaging	0.97
R7494:Fbxo21	UTSW	5	118,138,388 (GRCm39)	missense	possibly damaging	0.86
R7498:Fbxo21	UTSW	5	118,140,239 (GRCm39)	critical splice donor site	probably null
R7801:Fbxo21	UTSW	5	118,124,189 (GRCm39)	missense	probably damaging	0.96
R7857:Fbxo21	UTSW	5	118,126,878 (GRCm39)	missense	probably benign	0.21
R7944:Fbxo21	UTSW	5	118,146,212 (GRCm39)	missense	possibly damaging	0.89
R7945:Fbxo21	UTSW	5	118,146,212 (GRCm39)	missense	possibly damaging	0.89
R8116:Fbxo21	UTSW	5	118,128,919 (GRCm39)	missense	possibly damaging	0.70
R8354:Fbxo21	UTSW	5	118,133,479 (GRCm39)	missense	probably damaging	1.00
R8454:Fbxo21	UTSW	5	118,133,479 (GRCm39)	missense	probably damaging	1.00
R8751:Fbxo21	UTSW	5	118,140,127 (GRCm39)	missense	probably damaging	1.00
R9273:Fbxo21	UTSW	5	118,146,108 (GRCm39)	missense	probably damaging	1.00
R9483:Fbxo21	UTSW	5	118,127,272 (GRCm39)	missense	possibly damaging	0.52
Z1177:Fbxo21	UTSW	5	118,127,236 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCAAGAATGTTTGGCCCAC -3'
(R):5'- TGCTCTGTGAAATGACCTGAG -3'

Sequencing Primer
(F):5'- GAATGTTTGGCCCACAAGAATCCTG -3'
(R):5'- AAATGACCTGAGTTCCTGGG -3'

Posted On

2018-06-06