Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Fbxo43'

285520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxo43

Ensembl Gene

ENSMUSG00000048230

Gene Name

F-box protein 43

Synonyms

Emi2, early mitotic inhibitor 2, endogenous meiotic inhibitor 2, XErp1 homolog, 4930533G20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

36150206-36165030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36151957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 587 (K587E)

Ref Sequence

ENSEMBL: ENSMUSP00000054125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058643]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058643
AA Change: K587E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: K587E

Domain	Start	End	E-Value	Type
low complexity region	88	100	N/A	INTRINSIC
low complexity region	393	406	N/A	INTRINSIC
Blast:FBOX	439	479	2e-14	BLAST
low complexity region	502	515	N/A	INTRINSIC
IBR	555	614	1.46e-4	SMART

Coding Region Coverage

Validation Efficiency

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 FBXO43, 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]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fasn	A	T	11: 120,698,729 (GRCm39)	I2489N	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Jph1	T	C	1: 17,161,981 (GRCm39)	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mup21	T	G	4: 62,066,829 (GRCm39)	E137A	probably damaging	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Retsat	T	A	6: 72,578,693 (GRCm39)	L135*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,508,035 (GRCm39)	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Slu7	A	T	11: 43,331,469 (GRCm39)	Q201L	probably benign	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	probably damaging	Het

Other mutations in Fbxo43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Fbxo43	APN	15	36,151,972 (GRCm39)	missense	probably damaging	1.00
IGL02246:Fbxo43	APN	15	36,162,842 (GRCm39)	missense	probably benign	0.06
IGL02576:Fbxo43	APN	15	36,152,321 (GRCm39)	missense	probably benign	0.01
FR4304:Fbxo43	UTSW	15	36,152,246 (GRCm39)	small insertion	probably benign
FR4304:Fbxo43	UTSW	15	36,152,243 (GRCm39)	small insertion	probably benign
FR4304:Fbxo43	UTSW	15	36,152,240 (GRCm39)	small insertion	probably benign
FR4548:Fbxo43	UTSW	15	36,152,244 (GRCm39)	nonsense	probably null
FR4589:Fbxo43	UTSW	15	36,152,247 (GRCm39)	small insertion	probably benign
FR4589:Fbxo43	UTSW	15	36,152,246 (GRCm39)	small insertion	probably benign
R0193:Fbxo43	UTSW	15	36,162,029 (GRCm39)	missense	probably benign	0.29
R0244:Fbxo43	UTSW	15	36,161,939 (GRCm39)	missense	probably damaging	1.00
R0322:Fbxo43	UTSW	15	36,152,338 (GRCm39)	splice site	probably benign
R0409:Fbxo43	UTSW	15	36,162,503 (GRCm39)	missense	probably benign	0.01
R0827:Fbxo43	UTSW	15	36,163,115 (GRCm39)	missense	possibly damaging	0.90
R1562:Fbxo43	UTSW	15	36,163,162 (GRCm39)	missense	probably damaging	0.99
R1880:Fbxo43	UTSW	15	36,162,661 (GRCm39)	missense	probably benign	0.02
R2051:Fbxo43	UTSW	15	36,162,278 (GRCm39)	missense	probably damaging	1.00
R3792:Fbxo43	UTSW	15	36,163,005 (GRCm39)	missense	probably benign	0.03
R3875:Fbxo43	UTSW	15	36,162,249 (GRCm39)	missense	probably benign
R3876:Fbxo43	UTSW	15	36,152,258 (GRCm39)	missense	probably damaging	1.00
R5023:Fbxo43	UTSW	15	36,163,075 (GRCm39)	missense	probably benign	0.13
R5633:Fbxo43	UTSW	15	36,162,241 (GRCm39)	splice site	probably null
R5997:Fbxo43	UTSW	15	36,162,239 (GRCm39)	missense	probably damaging	1.00
R6589:Fbxo43	UTSW	15	36,162,686 (GRCm39)	missense	probably damaging	0.99
R7238:Fbxo43	UTSW	15	36,151,971 (GRCm39)	missense	probably damaging	1.00
R7536:Fbxo43	UTSW	15	36,161,997 (GRCm39)	missense	probably benign
R7689:Fbxo43	UTSW	15	36,163,201 (GRCm39)	missense	probably benign	0.00
R7780:Fbxo43	UTSW	15	36,162,358 (GRCm39)	missense	probably damaging	1.00
R8167:Fbxo43	UTSW	15	36,151,917 (GRCm39)	missense	probably damaging	1.00
R8184:Fbxo43	UTSW	15	36,162,485 (GRCm39)	missense	possibly damaging	0.53
R8306:Fbxo43	UTSW	15	36,162,013 (GRCm39)	missense	probably benign	0.01
R8393:Fbxo43	UTSW	15	36,162,494 (GRCm39)	missense	probably benign	0.06
R9099:Fbxo43	UTSW	15	36,162,619 (GRCm39)	missense	possibly damaging	0.56
R9658:Fbxo43	UTSW	15	36,152,282 (GRCm39)	missense	probably damaging	1.00
X0025:Fbxo43	UTSW	15	36,152,306 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16