Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Fbxo10'

481926

Institutional Source

Beutler Lab

Gene Symbol

Fbxo10

Ensembl Gene

ENSMUSG00000048232

Gene Name

F-box protein 10

Synonyms

LOC269529, FBX10

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45034248-45084604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45061960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 189 (F189V)

Ref Sequence

ENSEMBL: ENSMUSP00000058233 (fasta)

Gene Model

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

AlphaFold

Q7TQF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052236
AA Change: F189V

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

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: F189V

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

unknown
Transcript: ENSMUST00000140008
AA Change: F15V

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: F15V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155583

Meta Mutation Damage Score

0.6997

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,285,123 (GRCm39)	M11L	probably benign	Het
Acad10	A	G	5: 121,783,468 (GRCm39)	L319P	probably damaging	Het
Adam12	C	A	7: 133,533,465 (GRCm39)	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,243,146 (GRCm39)	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,361,531 (GRCm39)	T797M	possibly damaging	Het
Auts2	G	A	5: 131,505,734 (GRCm39)		probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Ccdc146	A	G	5: 21,523,180 (GRCm39)	S286P	probably benign	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmtr1	T	C	17: 29,921,135 (GRCm39)	Y794H	probably benign	Het
Copb2	A	G	9: 98,452,378 (GRCm39)	E54G	probably damaging	Het
Ctsk	A	T	3: 95,408,767 (GRCm39)	H77L	probably damaging	Het
Dnah3	T	C	7: 119,672,764 (GRCm39)	Y546C	probably benign	Het
Ephb2	A	T	4: 136,423,366 (GRCm39)	V304E	probably benign	Het
Ern1	C	T	11: 106,302,595 (GRCm39)	V420I	probably benign	Het
Esrrg	A	T	1: 187,930,995 (GRCm39)	E339V	probably damaging	Het
Foxl1	G	T	8: 121,855,160 (GRCm39)	A154S	probably damaging	Het
Frs3	A	G	17: 48,012,602 (GRCm39)	D103G	possibly damaging	Het
Gdpd4	A	G	7: 97,690,137 (GRCm39)	T610A	probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm4847	C	T	1: 166,470,942 (GRCm39)	S36N	probably benign	Het
Grm8	G	T	6: 27,363,623 (GRCm39)	L631I	probably damaging	Het
Ints9	T	A	14: 65,276,777 (GRCm39)	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,774,885 (GRCm39)	H647R	probably damaging	Het
Kcnq1	T	A	7: 142,815,105 (GRCm39)	H501Q	probably damaging	Het
Kctd20	T	C	17: 29,185,884 (GRCm39)	L409P	probably benign	Het
Kiss1r	A	G	10: 79,754,541 (GRCm39)	T12A	probably benign	Het
Kndc1	T	A	7: 139,507,333 (GRCm39)	V1173E	probably damaging	Het
Kprp	T	C	3: 92,732,081 (GRCm39)	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,662,441 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,391,784 (GRCm39)	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,817,707 (GRCm39)	G228D	probably damaging	Het
Muc16	G	A	9: 18,570,539 (GRCm39)	A660V	unknown	Het
Muc5b	T	C	7: 141,411,898 (GRCm39)	C1615R	unknown	Het
Nans	A	T	4: 46,489,441 (GRCm39)	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,448,418 (GRCm39)	S207L	possibly damaging	Het
Nrdc	T	G	4: 108,876,268 (GRCm39)	F355V	probably damaging	Het
Nrip2	C	T	6: 128,376,979 (GRCm39)		probably benign	Het
Nufip1	C	T	14: 76,351,628 (GRCm39)	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,049,071 (GRCm39)	H114Y	possibly damaging	Het
Opa1	T	A	16: 29,405,836 (GRCm39)	W134R	probably damaging	Het
Or4k45	T	A	2: 111,395,019 (GRCm39)	I257F	probably damaging	Het
Or8a1b	G	T	9: 37,623,406 (GRCm39)	H56Q	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Patl2	T	C	2: 121,954,965 (GRCm39)	D361G	probably damaging	Het
Pcx	A	G	19: 4,671,294 (GRCm39)	D1172G	probably damaging	Het
Phax	A	G	18: 56,708,675 (GRCm39)	T58A	probably benign	Het
Phf11b	T	A	14: 59,562,375 (GRCm39)	I177L	possibly damaging	Het
Pole	T	A	5: 110,450,010 (GRCm39)	V819D	probably damaging	Het
Poll	T	C	19: 45,541,594 (GRCm39)	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,386,602 (GRCm39)		probably null	Het
Ppp1r9a	C	A	6: 5,134,660 (GRCm39)	H928N	probably benign	Het
Prdm2	T	C	4: 142,896,683 (GRCm39)	N102D	probably damaging	Het
Rbm45	A	T	2: 76,200,756 (GRCm39)	D95V	probably benign	Het
Rdh19	A	G	10: 127,695,463 (GRCm39)	M226V	probably benign	Het
Rev3l	T	G	10: 39,699,807 (GRCm39)	S1435A	probably benign	Het
Rgs20	A	G	1: 4,982,553 (GRCm39)	I305T	probably benign	Het
Rhobtb2	T	C	14: 70,033,818 (GRCm39)	N469S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,593,708 (GRCm39)	I177T	probably damaging	Het
Samd12	T	A	15: 53,583,019 (GRCm39)	D105V	probably damaging	Het
Setd3	A	T	12: 108,126,594 (GRCm39)	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,584,192 (GRCm39)	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,014,627 (GRCm39)	A195S	possibly damaging	Het
Smcp	C	A	3: 92,491,557 (GRCm39)	A97S	unknown	Het
Stxbp5	G	A	10: 9,711,677 (GRCm39)	H248Y	probably damaging	Het
Syne2	T	C	12: 76,070,918 (GRCm39)	L4457P	probably benign	Het
Tbx3	A	G	5: 119,818,594 (GRCm39)	T390A	probably benign	Het
Tmeff2	G	A	1: 51,018,601 (GRCm39)	W194*	probably null	Het
Tmem120b	G	A	5: 123,242,544 (GRCm39)	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,545 (GRCm39)	V402A	probably benign	Het
Ttll2	C	A	17: 7,619,766 (GRCm39)	G54W	possibly damaging	Het
Uba7	G	A	9: 107,858,433 (GRCm39)	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,482,809 (GRCm39)	E55G	probably damaging	Het
Wdr35	A	G	12: 9,066,511 (GRCm39)	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,267,293 (GRCm39)	V381M	probably damaging	Het
Zdhhc11	T	A	13: 74,127,303 (GRCm39)	W227R	probably benign	Het
Zfp341	T	C	2: 154,487,579 (GRCm39)	S681P	probably damaging	Het
Zfp735	T	A	11: 73,581,174 (GRCm39)	D70E	possibly damaging	Het
Zmat4	G	A	8: 24,419,279 (GRCm39)	A104T	probably 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
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
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'- CTCTGGACCATACTGACCTGTG -3'
(R):5'- ATGAGTTTGACAGCTTGGGC -3'

Sequencing Primer
(F):5'- GACCATACTGACCTGTGTGCCC -3'
(R):5'- ATGGCCAGCCTCTATGATCGAATC -3'

Posted On

2017-06-26