Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Fbxo10'

581195

Institutional Source

Beutler Lab

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

LOC269529, FBX10

MMRRC Submission

045571-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7498 (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 45062194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 111 (S111G)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

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

AlphaFold

Q7TQF2

Predicted Effect

probably benign
Transcript: ENSMUST00000052236
AA Change: S111G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: S111G

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

probably benign
Transcript: ENSMUST00000140008

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232

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

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fdx1	A	C	9: 51,859,898 (GRCm39)	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mettl8	A	C	2: 70,795,969 (GRCm39)	V306G	probably damaging	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Or5p80	T	A	7: 108,229,623 (GRCm39)	C141*	probably null	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Prc1	C	T	7: 79,962,898 (GRCm39)	T564M	possibly damaging	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spata31h1	T	A	10: 82,127,113 (GRCm39)	T1966S	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	probably benign	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
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
R8798:Fbxo10	UTSW	4	45,051,605 (GRCm39)	missense	possibly damaging	0.47
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'- TGCTGGTCAATGCTGGCAAG -3'
(R):5'- CCTGGTATGAGCTGATCCTCAG -3'

Sequencing Primer
(F):5'- GCAAGCAGGGCCACCTC -3'
(R):5'- TGATCCTCAGCCTGGACAGTAC -3'

Posted On

2019-10-17