Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Fbxo10'

671352

Institutional Source

Beutler Lab

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

LOC269529, FBX10

MMRRC Submission

068724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45034248-45084604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45051605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 502 (H502R)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052236]

AlphaFold

Q7TQF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052236
AA Change: H502R

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: H502R

Domain	Start	End	E-Value	Type
FBOX	6	48	1.92e-6	SMART
PbH1	198	217	8.34e3	SMART
PbH1	238	260	1.37e3	SMART
CASH	337	511	7.29e-6	SMART
PbH1	423	444	1.41e2	SMART
PbH1	467	489	1.33e3	SMART
PbH1	490	512	1.32e2	SMART
PbH1	513	535	8.34e3	SMART
PbH1	536	558	2.87e1	SMART
CASH	536	672	5.49e1	SMART
PbH1	559	581	1.25e1	SMART
PbH1	582	604	2.64e2	SMART
PbH1	605	627	6.05e3	SMART
PbH1	628	650	2.46e2	SMART
PbH1	651	673	2.14e2	SMART
CASH	681	804	6.58e1	SMART
PbH1	713	735	6.52e2	SMART
PbH1	736	758	5.92e2	SMART
PbH1	760	782	1.13e3	SMART
PbH1	783	805	1.86e2	SMART
PbH1	828	850	9.32e1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: H328R

Domain	Start	End	E-Value	Type
PbH1	25	44	8.34e3	SMART
PbH1	65	87	1.37e3	SMART
CASH	164	338	7.29e-6	SMART
PbH1	250	271	1.41e2	SMART
PbH1	294	316	1.33e3	SMART
PbH1	317	339	1.32e2	SMART
PbH1	340	362	8.34e3	SMART
PbH1	363	385	2.87e1	SMART
CASH	363	499	5.49e1	SMART
PbH1	386	408	1.25e1	SMART
PbH1	409	431	2.64e2	SMART
PbH1	432	454	6.05e3	SMART
PbH1	455	477	2.46e2	SMART
PbH1	478	500	2.14e2	SMART
CASH	508	631	6.58e1	SMART
PbH1	540	562	6.52e2	SMART
PbH1	563	585	5.92e2	SMART
PbH1	587	609	1.13e3	SMART
PbH1	610	632	1.86e2	SMART
PbH1	655	677	9.32e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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 FBXO10, 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,937,380 (GRCm39)	R176*	probably null	Het
4921539E11Rik	A	C	4: 103,123,574 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,797,105 (GRCm39)	N492S	probably benign	Het
Acox1	T	C	11: 116,065,183 (GRCm39)	Y624C	probably damaging	Het
Aff4	T	C	11: 53,291,335 (GRCm39)		probably benign	Het
Ak9	T	A	10: 41,258,847 (GRCm39)	D781E		Het
Arfgef3	T	C	10: 18,522,799 (GRCm39)	D409G	probably damaging	Het
Arhgef18	T	A	8: 3,414,645 (GRCm39)	Y8N	probably benign	Het
Blnk	A	G	19: 40,950,795 (GRCm39)	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,541,601 (GRCm39)	L310P	probably damaging	Het
Cgas	G	A	9: 78,350,348 (GRCm39)	R5C	probably benign	Het
Cit	T	A	5: 116,107,102 (GRCm39)	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,974,675 (GRCm39)	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,595,382 (GRCm39)	Y1115N		Het
Dnah9	A	C	11: 65,796,057 (GRCm39)	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,506,037 (GRCm39)	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,490,717 (GRCm39)	V67A	probably benign	Het
Eif6	T	C	2: 155,664,886 (GRCm39)	N200S	probably damaging	Het
Fcer1a	A	G	1: 173,053,047 (GRCm39)	Y50H	probably benign	Het
Filip1	G	A	9: 79,727,372 (GRCm39)	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424 (GRCm39)	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 79,888,725 (GRCm39)	P252L	probably damaging	Het
Gsap	T	C	5: 21,476,248 (GRCm39)		probably null	Het
Hgs	T	C	11: 120,370,938 (GRCm39)	V598A	probably benign	Het
Irf2	G	T	8: 47,260,349 (GRCm39)	V94L	probably benign	Het
Kalrn	G	T	16: 33,803,225 (GRCm39)	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 51,130,565 (GRCm39)	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,645,372 (GRCm39)	I15T	probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrn3	A	G	12: 41,503,174 (GRCm39)	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,284,258 (GRCm39)	Y395H	probably benign	Het
Ltf	A	G	9: 110,852,828 (GRCm39)		probably benign	Het
Ly75	A	G	2: 60,154,270 (GRCm39)	F1059S	probably benign	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Map1a	G	A	2: 121,132,768 (GRCm39)	V1195M	probably benign	Het
Mroh2b	A	T	15: 4,978,191 (GRCm39)	I1320F	probably damaging	Het
Mug2	A	G	6: 122,058,569 (GRCm39)	T1324A	probably damaging	Het
Mylk	G	A	16: 34,719,772 (GRCm39)	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,754,232 (GRCm39)	G911R		Het
Neo1	A	G	9: 58,820,449 (GRCm39)	Y825H	probably damaging	Het
Nfat5	T	G	8: 108,074,321 (GRCm39)	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,330,887 (GRCm39)	I503K	possibly damaging	Het
Or10d5	G	A	9: 39,862,013 (GRCm39)	T18I	probably benign	Het
Or13d1	C	A	4: 52,970,790 (GRCm39)	H56Q	possibly damaging	Het
Or5k16	A	T	16: 58,736,307 (GRCm39)	D232E	probably benign	Het
Or8d2	G	A	9: 38,760,213 (GRCm39)	E268K	probably benign	Het
Pdcl2	T	C	5: 76,472,947 (GRCm39)	D7G	probably damaging	Het
Phyh	C	T	2: 4,923,893 (GRCm39)	R5C	probably damaging	Het
Prr11	A	C	11: 86,996,881 (GRCm39)	S28A	unknown	Het
Psmd13	T	A	7: 140,477,663 (GRCm39)	L190*	probably null	Het
Ptx4	A	G	17: 25,343,716 (GRCm39)	D322G	probably damaging	Het
Rnf40	T	C	7: 127,188,954 (GRCm39)	L109P	probably damaging	Het
Rrp1	T	C	10: 78,245,024 (GRCm39)	T102A	probably damaging	Het
Sema4a	T	G	3: 88,344,004 (GRCm39)	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,183,702 (GRCm39)	D188V	probably benign	Het
Smarca5	C	A	8: 81,443,137 (GRCm39)	A570S	probably damaging	Het
Spocd1	G	C	4: 129,823,997 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,535,212 (GRCm39)	G3823D	probably benign	Het
Suco	A	G	1: 161,648,004 (GRCm39)	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,151,421 (GRCm39)	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,228,605 (GRCm39)	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,217,209 (GRCm39)	N321S	probably benign	Het
Tmem132c	T	A	5: 127,437,217 (GRCm39)	Y235*	probably null	Het
Tnfaip6	T	C	2: 51,933,824 (GRCm39)	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,620 (GRCm39)	I411V	probably benign	Het
Trio	A	C	15: 27,851,923 (GRCm39)	V856G	possibly damaging	Het
Trpc2	C	G	7: 101,733,767 (GRCm39)	R239G	probably benign	Het
Ttn	C	T	2: 76,656,476 (GRCm39)	V12502I	unknown	Het
Usf3	A	G	16: 44,040,536 (GRCm39)	D1672G	probably damaging	Het
Usp24	A	G	4: 106,236,436 (GRCm39)	N1011S	probably benign	Het
Vac14	A	G	8: 111,446,519 (GRCm39)	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,164,522 (GRCm39)	L10P	probably damaging	Het
Xrcc5	T	C	1: 72,353,337 (GRCm39)	M115T	probably damaging	Het
Zfp1006	G	A	8: 129,945,779 (GRCm39)	H349Y	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zmym1	A	T	4: 126,943,664 (GRCm39)	N241K	possibly damaging	Het

Other mutations in Fbxo10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Fbxo10	APN	4	45,058,684 (GRCm39)	missense	probably damaging	0.98
IGL02073:Fbxo10	APN	4	45,046,349 (GRCm39)	missense	possibly damaging	0.94
IGL02097:Fbxo10	APN	4	45,048,527 (GRCm39)	missense	probably benign	0.24
IGL02315:Fbxo10	APN	4	45,062,469 (GRCm39)	missense	probably benign	0.08
IGL02403:Fbxo10	APN	4	45,062,517 (GRCm39)	missense	probably benign	0.01
IGL02408:Fbxo10	APN	4	45,058,361 (GRCm39)	missense	possibly damaging	0.75
IGL02496:Fbxo10	APN	4	45,043,883 (GRCm39)	missense	probably damaging	1.00
IGL02583:Fbxo10	APN	4	45,044,754 (GRCm39)	missense	probably damaging	1.00
IGL02794:Fbxo10	APN	4	45,041,928 (GRCm39)	missense	probably benign	0.20
N/A - 287:Fbxo10	UTSW	4	45,044,708 (GRCm39)	splice site	probably benign
R1033:Fbxo10	UTSW	4	45,062,236 (GRCm39)	missense	probably damaging	1.00
R1102:Fbxo10	UTSW	4	45,043,672 (GRCm39)	missense	probably damaging	1.00
R1583:Fbxo10	UTSW	4	45,062,118 (GRCm39)	missense	probably damaging	1.00
R1586:Fbxo10	UTSW	4	45,042,036 (GRCm39)	missense	possibly damaging	0.82
R1789:Fbxo10	UTSW	4	45,046,389 (GRCm39)	missense	probably damaging	1.00
R2187:Fbxo10	UTSW	4	45,058,531 (GRCm39)	missense	probably benign	0.09
R2191:Fbxo10	UTSW	4	45,044,811 (GRCm39)	missense	probably damaging	1.00
R2377:Fbxo10	UTSW	4	45,044,719 (GRCm39)	missense	probably benign	0.18
R2425:Fbxo10	UTSW	4	45,051,642 (GRCm39)	missense	possibly damaging	0.60
R2495:Fbxo10	UTSW	4	45,040,545 (GRCm39)	missense	probably benign	0.00
R4105:Fbxo10	UTSW	4	45,059,054 (GRCm39)	missense	probably benign	0.01
R4472:Fbxo10	UTSW	4	45,043,693 (GRCm39)	missense	probably damaging	1.00
R4480:Fbxo10	UTSW	4	45,048,470 (GRCm39)	missense	probably damaging	1.00
R4985:Fbxo10	UTSW	4	45,040,692 (GRCm39)	missense	probably benign	0.33
R5193:Fbxo10	UTSW	4	45,051,573 (GRCm39)	nonsense	probably null
R5309:Fbxo10	UTSW	4	45,042,036 (GRCm39)	missense	possibly damaging	0.82
R5312:Fbxo10	UTSW	4	45,042,036 (GRCm39)	missense	possibly damaging	0.82
R5348:Fbxo10	UTSW	4	45,058,934 (GRCm39)	missense	probably damaging	1.00
R5694:Fbxo10	UTSW	4	45,035,970 (GRCm39)	missense	probably damaging	1.00
R5844:Fbxo10	UTSW	4	45,058,760 (GRCm39)	missense	probably benign	0.09
R5974:Fbxo10	UTSW	4	45,040,631 (GRCm39)	missense	probably benign	0.18
R5990:Fbxo10	UTSW	4	45,061,960 (GRCm39)	missense	probably damaging	1.00
R6197:Fbxo10	UTSW	4	45,043,857 (GRCm39)	missense	probably benign	0.03
R6359:Fbxo10	UTSW	4	45,041,796 (GRCm39)	missense	possibly damaging	0.93
R6808:Fbxo10	UTSW	4	45,059,035 (GRCm39)	missense	probably benign	0.00
R6873:Fbxo10	UTSW	4	45,041,787 (GRCm39)	missense	possibly damaging	0.94
R6921:Fbxo10	UTSW	4	45,044,849 (GRCm39)	missense	probably damaging	1.00
R7089:Fbxo10	UTSW	4	45,062,230 (GRCm39)	missense	possibly damaging	0.90
R7120:Fbxo10	UTSW	4	45,040,533 (GRCm39)	nonsense	probably null
R7498:Fbxo10	UTSW	4	45,062,194 (GRCm39)	missense	probably benign	0.04
R7872:Fbxo10	UTSW	4	45,051,699 (GRCm39)	missense	not run
R8022:Fbxo10	UTSW	4	45,062,062 (GRCm39)	missense	possibly damaging	0.93
R8161:Fbxo10	UTSW	4	45,044,793 (GRCm39)	missense	probably damaging	1.00
R8416:Fbxo10	UTSW	4	45,058,942 (GRCm39)	missense	possibly damaging	0.83
R8419:Fbxo10	UTSW	4	45,041,809 (GRCm39)	missense	possibly damaging	0.72
R8744:Fbxo10	UTSW	4	45,043,880 (GRCm39)	missense	probably benign
R8887:Fbxo10	UTSW	4	45,058,887 (GRCm39)	missense	probably benign
R9273:Fbxo10	UTSW	4	45,062,178 (GRCm39)	missense	probably benign
R9548:Fbxo10	UTSW	4	45,058,970 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAGTCTTGAGGACACACAAAA -3'
(R):5'- CAGGGAAAGATGTGCATGCT -3'

Sequencing Primer
(F):5'- TCTTGAGGACACACAAAAATGGGC -3'
(R):5'- ATGCACCACATCCTGGGTATGAG -3'

Posted On

2021-04-30