Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Fbxo43'

38012

Institutional Source

Beutler Lab

Gene Symbol

Fbxo43

Ensembl Gene

ENSMUSG00000048230

Gene Name

F-box protein 43

Synonyms

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

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36150060-36164884 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36161793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 423 (K423E)

Ref Sequence

ENSEMBL: ENSMUSP00000054125 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058643
AA Change: K423E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054125
Gene: ENSMUSG00000048230
AA Change: K423E

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

Meta Mutation Damage Score

0.4947

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,286,491		probably null	Het
Adamdec1	A	T	14: 68,568,723	C434*	probably null	Het
Adprhl1	A	G	8: 13,242,391		probably benign	Het
Ago1	T	A	4: 126,463,706	I59F	possibly damaging	Het
Arel1	T	C	12: 84,920,693	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,363,131	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,884,622	G204D	probably damaging	Het
Bace2	T	A	16: 97,436,773		probably null	Het
Camk4	G	A	18: 33,179,625		probably null	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cep152	T	C	2: 125,564,214	E1466G	probably benign	Het
Ces3b	T	C	8: 105,092,635	F441S	probably damaging	Het
Cfap52	T	C	11: 67,926,382	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,813,898	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,102,168	D467V	probably damaging	Het
Col7a1	T	A	9: 108,972,184		probably null	Het
Cstf1	A	G	2: 172,377,710	N247S	possibly damaging	Het
Dffb	G	T	4: 153,974,615	N68K	probably benign	Het
Duox2	C	T	2: 122,291,860	G595S	probably benign	Het
Eftud2	T	A	11: 102,864,725	I228F	probably damaging	Het
Elmo3	T	C	8: 105,309,171	V578A	probably benign	Het
Elp2	A	G	18: 24,631,471	D625G	possibly damaging	Het
Ep300	C	T	15: 81,640,128	P1386S	unknown	Het
Fam120b	A	G	17: 15,417,637	D610G	probably damaging	Het
Fastk	A	T	5: 24,442,178		probably benign	Het
Fbxl6	A	G	15: 76,537,191	S252P	probably damaging	Het
Filip1	T	A	9: 79,819,462	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,856,378	Y283*	probably null	Het
Gigyf2	T	A	1: 87,379,015	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,716,014		probably null	Het
Golga5	T	C	12: 102,476,188	V262A	probably benign	Het
Hectd4	T	C	5: 121,329,605	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632	S335*	probably null	Het
Itga1	A	T	13: 115,006,897		probably benign	Het
Itgb1	T	C	8: 128,717,685		probably benign	Het
Itpr1	G	A	6: 108,473,589	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kprp	C	T	3: 92,825,411	V111I	probably benign	Het
Lamc3	T	C	2: 31,940,721	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,227,001	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,534,698	T228A	probably benign	Het
Lipa	A	T	19: 34,501,541	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,215,773	E373K	probably damaging	Het
Map6	G	A	7: 99,336,836	G649D	probably benign	Het
Mccc1	A	G	3: 35,990,047		probably null	Het
Mical3	A	T	6: 120,957,722	S1799T	probably benign	Het
Mmp23	T	A	4: 155,652,132	T151S	probably damaging	Het
Myo1d	T	A	11: 80,674,708	N401I	probably damaging	Het
Myo9b	T	A	8: 71,321,813	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353	W446L	probably benign	Het
Nedd1	A	T	10: 92,716,265		probably benign	Het
Ngef	C	A	1: 87,487,962		probably benign	Het
Nup153	A	T	13: 46,693,936	N672K	probably benign	Het
Olfr1308	T	C	2: 111,961,016	N19S	probably benign	Het
Olfr149	T	A	9: 39,702,173	I199F	probably damaging	Het
Olfr1509	T	C	14: 52,450,512	V33A	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Palm2	T	G	4: 57,710,177	V374G	possibly damaging	Het
Pdlim3	C	A	8: 45,908,460		probably benign	Het
Pmfbp1	G	A	8: 109,541,673	E951K	probably damaging	Het
Pop1	T	A	15: 34,515,891	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ptpdc1	A	T	13: 48,585,980	N658K	probably benign	Het
Ptprk	A	C	10: 28,206,225	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,732,877	R712W	probably damaging	Het
Samd7	A	C	3: 30,751,073	T2P	probably benign	Het
Sft2d1	A	G	17: 8,319,422	T52A	probably benign	Het
Slc25a26	A	G	6: 94,510,833	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,189,152	E621G	possibly damaging	Het
Slf1	A	T	13: 77,126,632	L28*	probably null	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,397,553		probably benign	Het
Tacc2	T	C	7: 130,751,825		probably benign	Het
Tas2r140	A	G	6: 133,055,327	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,018,164	T371K	possibly damaging	Het
Tifa	C	T	3: 127,796,888	L103F	probably damaging	Het
Tmco3	A	G	8: 13,292,037	N104D	probably damaging	Het
Tmem259	T	A	10: 79,978,963	D240V	probably damaging	Het
Trim60	C	T	8: 65,001,048	R183H	probably benign	Het
Trps1	T	C	15: 50,664,743	N725D	probably damaging	Het
Ttn	C	T	2: 76,814,806	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Unc79	A	G	12: 103,112,891	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,126	V405I	probably benign	Het
Wdr18	T	A	10: 79,966,408	D290E	probably damaging	Het
Wdr92	T	C	11: 17,229,851	L284P	probably damaging	Het
Wwc2	G	A	8: 47,900,721	A126V	probably benign	Het
Zfp882	A	T	8: 71,913,523	I105F	possibly damaging	Het
Zfp942	A	T	17: 21,928,572	C359S	probably benign	Het

Other mutations in Fbxo43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Fbxo43	APN	15	36151826	missense	probably damaging	1.00
IGL02212:Fbxo43	APN	15	36151811	missense	probably damaging	0.99
IGL02246:Fbxo43	APN	15	36162696	missense	probably benign	0.06
IGL02576:Fbxo43	APN	15	36152175	missense	probably benign	0.01
FR4304:Fbxo43	UTSW	15	36152094	small insertion	probably benign
FR4304:Fbxo43	UTSW	15	36152097	small insertion	probably benign
FR4304:Fbxo43	UTSW	15	36152100	small insertion	probably benign
FR4548:Fbxo43	UTSW	15	36152098	nonsense	probably null
FR4589:Fbxo43	UTSW	15	36152100	small insertion	probably benign
FR4589:Fbxo43	UTSW	15	36152101	small insertion	probably benign
R0193:Fbxo43	UTSW	15	36161883	missense	probably benign	0.29
R0322:Fbxo43	UTSW	15	36152192	splice site	probably benign
R0409:Fbxo43	UTSW	15	36162357	missense	probably benign	0.01
R0827:Fbxo43	UTSW	15	36162969	missense	possibly damaging	0.90
R1562:Fbxo43	UTSW	15	36163016	missense	probably damaging	0.99
R1880:Fbxo43	UTSW	15	36162515	missense	probably benign	0.02
R2051:Fbxo43	UTSW	15	36162132	missense	probably damaging	1.00
R3792:Fbxo43	UTSW	15	36162859	missense	probably benign	0.03
R3875:Fbxo43	UTSW	15	36162103	missense	probably benign
R3876:Fbxo43	UTSW	15	36152112	missense	probably damaging	1.00
R5023:Fbxo43	UTSW	15	36162929	missense	probably benign	0.13
R5633:Fbxo43	UTSW	15	36162095	splice site	probably null
R5997:Fbxo43	UTSW	15	36162093	missense	probably damaging	1.00
R6589:Fbxo43	UTSW	15	36162540	missense	probably damaging	0.99
R7238:Fbxo43	UTSW	15	36151825	missense	probably damaging	1.00
R7536:Fbxo43	UTSW	15	36161851	missense	probably benign
R7689:Fbxo43	UTSW	15	36163055	missense	probably benign	0.00
R7780:Fbxo43	UTSW	15	36162212	missense	probably damaging	1.00
R8167:Fbxo43	UTSW	15	36151771	missense	probably damaging	1.00
R8184:Fbxo43	UTSW	15	36162339	missense	possibly damaging	0.53
R8306:Fbxo43	UTSW	15	36161867	missense	probably benign	0.01
R8393:Fbxo43	UTSW	15	36162348	missense	probably benign	0.06
R9099:Fbxo43	UTSW	15	36162473	missense	possibly damaging	0.56
R9658:Fbxo43	UTSW	15	36152136	missense	probably damaging	1.00
X0025:Fbxo43	UTSW	15	36152160	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTATCCCATCAGGGATCACAG -3'
(R):5'- TGAAATGCAGACGGTCCATCCTAAC -3'

Sequencing Primer
(F):5'- GCTACTAGGGAGGTCATTTAAGC -3'
(R):5'- AGTCTGCAAGGCTCTGAGG -3'

Posted On

2013-05-23