Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Fbxo21'

631195

Institutional Source

Beutler Lab

Gene Symbol

Fbxo21

Ensembl Gene

ENSMUSG00000032898

Gene Name

F-box protein 21

Synonyms

2810425J22Rik

MMRRC Submission

067545-MU

Accession Numbers

Essential gene?

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

Stock #

R8116 (G1)

Quality Score

188.009

Status

Not validated

Chromosome

Chromosomal Location

118114835-118148263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118128919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 310 (T310A)

Ref Sequence

ENSEMBL: ENSMUSP00000143873 (fasta)

Gene Model

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

AlphaFold

Q8VDH1

Predicted Effect

probably benign
Transcript: ENSMUST00000035579
AA Change: T310A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035506
Gene: ENSMUSG00000032898
AA Change: T310A

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

possibly damaging
Transcript: ENSMUST00000202447
AA Change: T310A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143873
Gene: ENSMUSG00000032898
AA Change: T310A

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,982,420 (GRCm39)	N7K	probably benign	Het
Akap9	T	A	5: 4,111,183 (GRCm39)	D3081E	probably benign	Het
Amer2	G	A	14: 60,616,854 (GRCm39)	A350T	probably damaging	Het
Amotl1	A	G	9: 14,466,868 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
Aox1	T	C	1: 58,115,283 (GRCm39)	V756A	probably damaging	Het
Arap2	A	C	5: 62,887,954 (GRCm39)	I464S	probably benign	Het
Atp8a2	A	C	14: 60,263,657 (GRCm39)	M359R	probably damaging	Het
Aunip	T	C	4: 134,250,618 (GRCm39)	S188P	possibly damaging	Het
Cdt1	A	G	8: 123,298,728 (GRCm39)	E455G	probably benign	Het
Cyp2r1	G	T	7: 114,149,590 (GRCm39)	H475N	probably benign	Het
Dnah7a	G	T	1: 53,543,049 (GRCm39)	H2374N	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dst	G	A	1: 34,313,261 (GRCm39)	A4343T	probably benign	Het
Efcab3	A	G	11: 105,002,677 (GRCm39)	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,728,772 (GRCm39)	L409P	probably damaging	Het
Eno1	G	T	4: 150,325,526 (GRCm39)	S37I	probably damaging	Het
Ermp1	A	T	19: 29,601,196 (GRCm39)	L517Q	probably damaging	Het
Farp1	T	G	14: 121,471,232 (GRCm39)	I196S	probably damaging	Het
Fbxo31	C	T	8: 122,287,127 (GRCm39)	V149M	probably damaging	Het
Ggcx	C	A	6: 72,406,511 (GRCm39)	T658N	possibly damaging	Het
Gpc5	A	C	14: 115,636,637 (GRCm39)	H440P	probably damaging	Het
H13	C	T	2: 152,537,446 (GRCm39)	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,374,443 (GRCm39)	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,557,746 (GRCm39)	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251 (GRCm39)	A263S	probably benign	Het
Il1a	C	A	2: 129,144,864 (GRCm39)	V185F	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kdm4d	T	A	9: 14,375,237 (GRCm39)	K207M	probably damaging	Het
Lrrc37	A	T	11: 103,434,115 (GRCm39)	M3018K	unknown	Het
Lrrc4b	T	C	7: 44,110,533 (GRCm39)	L135P	probably damaging	Het
Lrrk1	A	G	7: 65,912,371 (GRCm39)	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,279,663 (GRCm39)	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,502,756 (GRCm39)	R937*	probably null	Het
Muc16	T	A	9: 18,570,033 (GRCm39)	T829S	unknown	Het
Myof	A	C	19: 37,921,167 (GRCm39)	I1365S	probably damaging	Het
Npc2	C	T	12: 84,807,612 (GRCm39)	R82Q	probably benign	Het
Or10ag2	T	A	2: 87,249,081 (GRCm39)	S228T	probably damaging	Het
Or10d1c	A	T	9: 38,894,169 (GRCm39)	M57K	probably damaging	Het
Or10j2	T	A	1: 173,098,047 (GRCm39)	F102I	possibly damaging	Het
Or2g25	G	A	17: 37,970,631 (GRCm39)	L198F	probably damaging	Het
Or4k45	T	C	2: 111,395,783 (GRCm39)	D2G	probably benign	Het
Or8b3b	A	T	9: 38,584,464 (GRCm39)	I92N	possibly damaging	Het
Or8d2b	T	A	9: 38,789,026 (GRCm39)	S185T	probably damaging	Het
Pdzph1	T	C	17: 59,282,138 (GRCm39)	N48S	probably benign	Het
Plce1	A	T	19: 38,513,262 (GRCm39)	H187L	probably benign	Het
Pramel6	G	T	2: 87,338,808 (GRCm39)	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,627,919 (GRCm39)		probably null	Het
Pwwp3a	G	A	10: 80,076,231 (GRCm39)	G474S	probably damaging	Het
Rabgap1l	A	G	1: 160,530,012 (GRCm39)	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,855,727 (GRCm39)	S625P	probably damaging	Het
Rhot1	A	T	11: 80,141,879 (GRCm39)	K461I	probably benign	Het
Rpa1	G	A	11: 75,193,501 (GRCm39)	T610I	possibly damaging	Het
Ryr1	G	T	7: 28,810,308 (GRCm39)	H316N	probably benign	Het
Shprh	T	C	10: 11,089,205 (GRCm39)	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Spata6	A	G	4: 111,685,517 (GRCm39)	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,089,117 (GRCm39)	I715N	probably damaging	Het
Stab1	A	T	14: 30,880,910 (GRCm39)	D627E	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872 (GRCm39)	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,788,048 (GRCm39)	K267N	probably benign	Het
Topaz1	C	T	9: 122,604,708 (GRCm39)	A1104V	probably benign	Het
Trmt11	A	G	10: 30,442,490 (GRCm39)	I231T	possibly damaging	Het
Utp15	G	A	13: 98,387,371 (GRCm39)	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,322,926 (GRCm39)	K121R	probably benign	Het
Xab2	C	T	8: 3,663,830 (GRCm39)	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,145,504 (GRCm39)	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,374,944 (GRCm39)	S357T	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
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
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'- AAAGACAGTCTTCTGCTGGC -3'
(R):5'- GCCCAGTGTAACTCCAGAAC -3'

Sequencing Primer
(F):5'- CTTCTGCTGGCTGTGAGAAAAGAG -3'
(R):5'- GTCAGAATCTCAACTCCACTCTCGG -3'

Posted On

2020-06-30