Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Fbxo43'

209067

Institutional Source

Beutler Lab

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

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

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

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36150206-36165030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36162661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 182 (D182G)

Ref Sequence

ENSEMBL: ENSMUSP00000054125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058643] [ENSMUST00000227793]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000058643
AA Change: D182G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: D182G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227781

Predicted Effect

probably benign
Transcript: ENSMUST00000227793

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	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
IGL02212:Fbxo43	APN	15	36,151,957 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GTCACATCTGCTCCATAGGTTG -3'
(R):5'- AGGCGGCTAGACTTTTCTTTCC -3'

Sequencing Primer
(F):5'- CCATAGGTTGTTTGGCTACCACAG -3'
(R):5'- GATTCACAAAGCAGATCTCTGG -3'

Posted On

2014-06-30