Mutagenetix > Incidental Mutation

Incidental Mutation 'R6320:Fbxo46'

510091

Institutional Source

Beutler Lab

Gene Symbol

Fbxo46

Ensembl Gene

ENSMUSG00000050428

Gene Name

F-box protein 46

Synonyms

20D7-FC4, 4932704E22Rik, Fbxo34l

MMRRC Submission

044475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6320 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18853784-18872186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18870466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 362 (S362P)

Ref Sequence

ENSEMBL: ENSMUSP00000129427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032566] [ENSMUST00000053109] [ENSMUST00000165913]

AlphaFold

Q8BG80

Predicted Effect

probably benign
Transcript: ENSMUST00000032566

SMART Domains

Protein: ENSMUSP00000032566
Gene: ENSMUSG00000030407

Domain	Start	End	E-Value	Type
low complexity region	27	48	N/A	INTRINSIC
Pfam:Peptidase_M28	151	377	2.3e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053109
AA Change: S362P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055692
Gene: ENSMUSG00000050428
AA Change: S362P

Domain	Start	End	E-Value	Type
low complexity region	274	292	N/A	INTRINSIC
low complexity region	337	358	N/A	INTRINSIC
low complexity region	366	375	N/A	INTRINSIC
low complexity region	415	424	N/A	INTRINSIC
FBOX	476	516	1.9e-5	SMART
low complexity region	591	603	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165913
AA Change: S362P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129427
Gene: ENSMUSG00000050428
AA Change: S362P

Domain	Start	End	E-Value	Type
low complexity region	274	292	N/A	INTRINSIC
low complexity region	337	358	N/A	INTRINSIC
low complexity region	366	375	N/A	INTRINSIC
low complexity region	415	424	N/A	INTRINSIC
FBOX	476	516	1.9e-5	SMART
low complexity region	591	603	N/A	INTRINSIC

Meta Mutation Damage Score

0.0873

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (63/63)

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 FBXO46, 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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	G	T	3: 20,369,943 (GRCm39)	A221D	probably benign	Het
Aldh18a1	A	T	19: 40,559,005 (GRCm39)	D280E	probably benign	Het
Apob	G	A	12: 8,039,194 (GRCm39)	D475N	probably benign	Het
Bmi1	C	T	2: 18,689,186 (GRCm39)	T290I	probably benign	Het
Brd8	A	T	18: 34,746,292 (GRCm39)	D139E	possibly damaging	Het
Cacna1e	C	A	1: 154,317,270 (GRCm39)	V1467F	possibly damaging	Het
Cdh15	A	G	8: 123,591,086 (GRCm39)	D445G	probably benign	Het
Ceacam5	T	A	7: 17,481,123 (GRCm39)	L290H	probably damaging	Het
Celsr1	G	T	15: 85,785,160 (GRCm39)	Q3025K	probably benign	Het
Chi3l1	T	A	1: 134,109,996 (GRCm39)	M1K	probably null	Het
Crybg2	T	C	4: 133,808,737 (GRCm39)	S1404P	probably damaging	Het
Cubn	C	A	2: 13,285,006 (GRCm39)	C3470F	probably damaging	Het
Cyp20a1	T	C	1: 60,391,331 (GRCm39)		probably null	Het
Cyp24a1	G	T	2: 170,328,704 (GRCm39)	T408K	probably benign	Het
Cyp2a12	A	T	7: 26,730,577 (GRCm39)	I181F	possibly damaging	Het
Dnm1l	A	T	16: 16,149,952 (GRCm39)	I268N	probably damaging	Het
Eif2a	A	G	3: 58,464,517 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,005,613 (GRCm39)	F701S	probably damaging	Het
Fgf22	A	G	10: 79,592,830 (GRCm39)		probably benign	Het
Fhod1	A	C	8: 106,063,982 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,459,062 (GRCm39)	V2448D	probably damaging	Het
Gm2696	G	T	10: 77,671,972 (GRCm39)		probably benign	Het
Gmpr	T	C	13: 45,685,874 (GRCm39)	S214P	possibly damaging	Het
Krt6a	A	G	15: 101,600,744 (GRCm39)	V308A	probably damaging	Het
Lig3	T	A	11: 82,684,833 (GRCm39)		probably null	Het
Lrrc37a	T	A	11: 103,394,877 (GRCm39)	N183Y	probably benign	Het
Mapk8ip3	C	A	17: 25,125,879 (GRCm39)	G422V	probably damaging	Het
Mks1	T	C	11: 87,746,325 (GRCm39)	S97P	probably benign	Het
Mphosph9	A	T	5: 124,463,024 (GRCm39)	V7E	probably damaging	Het
Msh5	A	G	17: 35,248,900 (GRCm39)	L711P	probably damaging	Het
Naga	T	A	15: 82,216,404 (GRCm39)		probably null	Het
Nherf4	A	G	9: 44,159,980 (GRCm39)	V380A	probably benign	Het
Nlrp10	T	A	7: 108,524,953 (GRCm39)	T176S	possibly damaging	Het
Nqo1	T	C	8: 108,115,582 (GRCm39)	N232D	probably benign	Het
Or1j21	C	G	2: 36,683,585 (GRCm39)	N112K	possibly damaging	Het
Or2b6	T	A	13: 21,823,418 (GRCm39)	I92L	probably damaging	Het
P2ry6	A	G	7: 100,587,603 (GRCm39)	F252S	probably damaging	Het
P3h3	G	A	6: 124,831,835 (GRCm39)	R317W	probably benign	Het
Pakap	T	A	4: 57,710,173 (GRCm39)	C373S	probably damaging	Het
Phkb	T	A	8: 86,602,327 (GRCm39)	D39E	probably benign	Het
Psg16	G	A	7: 16,822,112 (GRCm39)	G23D	probably damaging	Het
Ptgr2	T	A	12: 84,349,111 (GRCm39)	I150K	probably benign	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Sart3	A	T	5: 113,889,301 (GRCm39)	Y508N	probably benign	Het
Sh3bp1	C	T	15: 78,795,715 (GRCm39)	P615S	probably damaging	Het
Ska3	A	T	14: 58,054,148 (GRCm39)	N267K	probably benign	Het
Slc26a7	A	G	4: 14,524,498 (GRCm39)	I462T	probably benign	Het
Slu7	C	T	11: 43,332,316 (GRCm39)	A244V	probably benign	Het
Smarca4	C	T	9: 21,548,671 (GRCm39)	P319L	probably damaging	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Strc	T	A	2: 121,205,439 (GRCm39)	D25V	probably benign	Het
Syne2	T	G	12: 76,108,424 (GRCm39)	V936G	probably damaging	Het
Tbc1d7	C	T	13: 43,306,409 (GRCm39)		probably benign	Het
Terb1	C	A	8: 105,173,831 (GRCm39)	D751Y	probably damaging	Het
Trpc1	A	G	9: 95,603,303 (GRCm39)	Y410H	probably damaging	Het
Ush2a	A	G	1: 188,089,043 (GRCm39)	N333D	probably benign	Het
Usp34	T	C	11: 23,402,520 (GRCm39)	S2438P	probably damaging	Het
Vps35l	T	C	7: 118,353,072 (GRCm39)	V189A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zfp7	G	A	15: 76,774,810 (GRCm39)	G284D	possibly damaging	Het
Zfyve26	A	G	12: 79,286,776 (GRCm39)	S2271P	probably damaging	Het
Zscan18	G	A	7: 12,509,147 (GRCm39)		probably benign	Het

Other mutations in Fbxo46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Fbxo46	APN	7	18,870,728 (GRCm39)	missense	probably damaging	1.00
IGL01655:Fbxo46	APN	7	18,870,235 (GRCm39)	missense	probably damaging	1.00
IGL02869:Fbxo46	APN	7	18,871,139 (GRCm39)	missense	probably damaging	0.99
IGL02940:Fbxo46	APN	7	18,869,537 (GRCm39)	missense	probably benign	0.00
R0517:Fbxo46	UTSW	7	18,870,799 (GRCm39)	missense	possibly damaging	0.78
R0840:Fbxo46	UTSW	7	18,871,073 (GRCm39)	missense	possibly damaging	0.90
R0894:Fbxo46	UTSW	7	18,869,654 (GRCm39)	missense	probably damaging	0.98
R1377:Fbxo46	UTSW	7	18,870,350 (GRCm39)	missense	probably damaging	1.00
R2303:Fbxo46	UTSW	7	18,870,541 (GRCm39)	missense	possibly damaging	0.69
R4601:Fbxo46	UTSW	7	18,869,489 (GRCm39)	missense	probably benign
R5394:Fbxo46	UTSW	7	18,870,541 (GRCm39)	missense	possibly damaging	0.69
R5530:Fbxo46	UTSW	7	18,870,727 (GRCm39)	missense	probably damaging	1.00
R5743:Fbxo46	UTSW	7	18,870,420 (GRCm39)	missense	probably damaging	1.00
R7639:Fbxo46	UTSW	7	18,870,560 (GRCm39)	missense	probably damaging	1.00
R7748:Fbxo46	UTSW	7	18,870,458 (GRCm39)	missense	probably damaging	0.98
R8348:Fbxo46	UTSW	7	18,870,469 (GRCm39)	missense	probably damaging	1.00
R9068:Fbxo46	UTSW	7	18,869,325 (GRCm39)	start gained	probably benign
R9108:Fbxo46	UTSW	7	18,870,308 (GRCm39)	missense	probably damaging	0.99
R9464:Fbxo46	UTSW	7	18,870,791 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGACTTGTACCAGCTTATC -3'
(R):5'- TTGTGCCCTCAGAATCATCGG -3'

Sequencing Primer
(F):5'- GCTTATCAGCCCCTCCAGG -3'
(R):5'- TCAGAATCATCGGGGCCTG -3'

Posted On

2018-04-02