Mutagenetix > Incidental Mutation

Incidental Mutation 'R0055:Fbxo21'

58961

Institutional Source

Beutler Lab

Gene Symbol

Fbxo21

Ensembl Gene

ENSMUSG00000032898

Gene Name

F-box protein 21

Synonyms

2810425J22Rik

MMRRC Submission

038349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R0055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118114835-118148263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118138555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 493 (D493E)

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: D493E

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: D493E

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: D376E

Predicted Effect

probably benign
Transcript: ENSMUST00000202447
AA Change: D500E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: D500E

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

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

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
A2ml1	T	C	6: 128,547,057 (GRCm39)		probably benign	Het
Atp6v1h	A	T	1: 5,154,677 (GRCm39)	T2S	probably benign	Het
Bcl11b	G	A	12: 107,932,036 (GRCm39)	P179S	probably benign	Het
Cacna1a	C	T	8: 85,306,687 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,502,004 (GRCm39)		probably null	Het
Ccdc61	T	C	7: 18,626,461 (GRCm39)	D128G	probably damaging	Het
Cd55	A	G	1: 130,387,313 (GRCm39)		probably benign	Het
Cdk7	C	A	13: 100,855,812 (GRCm39)	E99*	probably null	Het
Cfap96	A	T	8: 46,421,198 (GRCm39)	S108R	probably damaging	Het
Cox8a	A	T	19: 7,194,874 (GRCm39)	S2T	probably damaging	Het
Cracdl	A	C	1: 37,663,337 (GRCm39)	S854A	probably benign	Het
Dennd5a	A	G	7: 109,498,998 (GRCm39)	I955T	possibly damaging	Het
Dop1a	A	C	9: 86,394,705 (GRCm39)	E602A	probably benign	Het
Ephx4	T	C	5: 107,560,944 (GRCm39)	L32S	probably damaging	Het
Frmd4b	A	T	6: 97,300,610 (GRCm39)		probably benign	Het
Fzd1	A	T	5: 4,806,037 (GRCm39)	M515K	possibly damaging	Het
Gli2	A	G	1: 118,818,138 (GRCm39)		probably benign	Het
Gm12887	T	A	4: 121,473,666 (GRCm39)	K61N	probably damaging	Het
Grin2a	A	T	16: 9,487,671 (GRCm39)	V409D	probably damaging	Het
Grin2b	T	C	6: 135,900,201 (GRCm39)	I227V	probably benign	Het
Helz2	T	G	2: 180,870,614 (GRCm39)	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,224,631 (GRCm39)	N1453S	probably benign	Het
Itpr3	C	A	17: 27,317,296 (GRCm39)	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,726,798 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,152,262 (GRCm39)	E1097G	probably benign	Het
Mcm10	T	C	2: 4,996,218 (GRCm39)	N882D	probably damaging	Het
Mettl13	A	T	1: 162,373,750 (GRCm39)	L167Q	probably damaging	Het
Morn2	A	T	17: 80,602,942 (GRCm39)	M1L	probably benign	Het
Mybph	G	T	1: 134,121,590 (GRCm39)	V88L	probably damaging	Het
Nefm	T	A	14: 68,358,648 (GRCm39)		probably benign	Het
Nf1	A	G	11: 79,362,377 (GRCm39)	E1497G	probably damaging	Het
Or2j3	T	C	17: 38,615,702 (GRCm39)	S217G	possibly damaging	Het
Or4k37	T	A	2: 111,158,870 (GRCm39)	Y35*	probably null	Het
Or51ah3	A	G	7: 103,210,244 (GRCm39)	K187E	probably damaging	Het
Or52e18	T	A	7: 104,609,703 (GRCm39)	T79S	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,696 (GRCm39)	W369R	probably damaging	Het
Plcd3	C	G	11: 102,968,411 (GRCm39)	W382S	probably damaging	Het
Plxna1	T	A	6: 89,306,721 (GRCm39)	I1370F	possibly damaging	Het
Qng1	T	C	13: 58,531,980 (GRCm39)	D192G	probably damaging	Het
Rarb	G	A	14: 16,509,066 (GRCm38)	R106C	probably damaging	Het
Rps6ka5	G	A	12: 100,644,839 (GRCm39)	T37I	probably damaging	Het
Runx1	G	T	16: 92,441,029 (GRCm39)		probably benign	Het
Scube1	A	G	15: 83,518,937 (GRCm39)	V301A	probably damaging	Het
Sema3a	A	T	5: 13,450,004 (GRCm39)	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,820,406 (GRCm39)	E8*	probably null	Het
Slc22a5	T	C	11: 53,782,032 (GRCm39)	S112G	probably benign	Het
Slc25a45	T	C	19: 5,930,495 (GRCm39)	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 82,921,126 (GRCm39)		noncoding transcript	Het
Slit2	C	A	5: 48,439,068 (GRCm39)	C1077*	probably null	Het
Spn	A	G	7: 126,735,494 (GRCm39)	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,660,655 (GRCm39)	W54R	probably damaging	Het
Ucp1	G	T	8: 84,017,233 (GRCm39)	E8*	probably null	Het
Unc80	A	T	1: 66,545,782 (GRCm39)		probably benign	Het
Vsnl1	A	T	12: 11,436,987 (GRCm39)		probably null	Het
Zdhhc11	C	T	13: 74,130,805 (GRCm39)	Q295*	probably null	Het
Zfp457	T	A	13: 67,442,098 (GRCm39)	H63L	probably damaging	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
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
R6528:Fbxo21	UTSW	5	118,138,421 (GRCm39)	missense	probably benign	0.25
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'- TGTCTTGAAGGTGCTTGACATCCTC -3'
(R):5'- TGTGTACCCAACTGCAACCCTG -3'

Sequencing Primer
(F):5'- GCTTGACATCCTCCAGCAC -3'
(R):5'- GCAACCTATACAAAGTCTTAGTGCAG -3'

Posted On

2013-07-11