Mutagenetix > Incidental Mutation

Incidental Mutation 'R8796:Fbxo30'

671268

Institutional Source

Beutler Lab

Gene Symbol

Fbxo30

Ensembl Gene

ENSMUSG00000047648

Gene Name

F-box protein 30

Synonyms

1700026A16Rik

MMRRC Submission

068637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R8796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11157074-11173796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11165320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 14 (C14Y)

Ref Sequence

ENSEMBL: ENSMUSP00000068230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070300] [ENSMUST00000129456]

AlphaFold

Q8BJL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000070300
AA Change: C14Y

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

SMART Domains

Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: C14Y

Domain	Start	End	E-Value	Type
Pfam:zf-TRAF_2	8	100	2.5e-42	PFAM
Pfam:F-box_4	610	725	1.6e-52	PFAM
Pfam:F-box	612	653	3e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129456
AA Change: C14Y

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

SMART Domains

Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: C14Y

Domain	Start	End	E-Value	Type
PDB:2YRE\|A	1	88	6e-51	PDB
SCOP:d1k2fa_	58	93	7e-3	SMART
Pfam:F-box	612	653	2.3e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,629,482 (GRCm39)	T182S	possibly damaging	Het
Abca12	A	C	1: 71,297,248 (GRCm39)		probably benign	Het
Aco1	T	A	4: 40,179,037 (GRCm39)	D345E	probably benign	Het
Acp6	T	C	3: 97,066,509 (GRCm39)	V9A	probably benign	Het
Akap1	A	C	11: 88,730,498 (GRCm39)	I597S	probably damaging	Het
B4galnt4	C	T	7: 140,647,488 (GRCm39)	T385I	probably damaging	Het
Bbof1	A	T	12: 84,460,068 (GRCm39)	T112S	possibly damaging	Het
Chd7	C	A	4: 8,838,691 (GRCm39)	H1297N	probably damaging	Het
Cldn15	T	C	5: 137,003,351 (GRCm39)	F147L	probably damaging	Het
Coq7	C	T	7: 118,126,640 (GRCm39)	E143K	probably damaging	Het
Ctnnb1	A	G	9: 120,784,498 (GRCm39)	N430S	probably damaging	Het
Cxcl12	G	T	6: 117,155,553 (GRCm39)	K92N	possibly damaging	Het
Dscaml1	T	C	9: 45,359,026 (GRCm39)	F95S	probably damaging	Het
Epha5	T	A	5: 84,255,850 (GRCm39)	H480L	probably damaging	Het
Gja5	A	G	3: 96,958,419 (GRCm39)	I159V	possibly damaging	Het
Herc2	A	T	7: 55,785,123 (GRCm39)	Q1487L	probably benign	Het
Hipk2	T	A	6: 38,675,158 (GRCm39)	Q1168L	probably damaging	Het
Kcnk12	T	A	17: 88,054,020 (GRCm39)	Y214F	probably damaging	Het
Kif5b	T	C	18: 6,226,965 (GRCm39)	K98E	probably benign	Het
Lama1	T	A	17: 68,117,146 (GRCm39)	N2480K		Het
Lrp1b	A	G	2: 40,793,426 (GRCm39)	C2610R		Het
Mast4	T	C	13: 102,919,899 (GRCm39)	Y536C	probably benign	Het
Ntrk1	A	G	3: 87,690,422 (GRCm39)	S407P	probably benign	Het
Ogdh	T	A	11: 6,297,129 (GRCm39)	M527K	possibly damaging	Het
Or51b6	T	C	7: 103,556,201 (GRCm39)	V182A		Het
Or5m9b	G	A	2: 85,905,518 (GRCm39)	V145M	possibly damaging	Het
Plxdc1	A	G	11: 97,847,407 (GRCm39)	S89P	probably benign	Het
Prdm2	A	G	4: 142,860,017 (GRCm39)	I1091T	probably benign	Het
Psg16	C	A	7: 16,827,814 (GRCm39)	H166N	possibly damaging	Het
Qrfpr	T	A	3: 36,234,345 (GRCm39)	Y332F	probably damaging	Het
Rab31	A	T	17: 66,079,529 (GRCm39)	I4K	possibly damaging	Het
Ranbp10	C	A	8: 106,499,665 (GRCm39)		probably benign	Het
Rasgrf2	T	C	13: 92,038,685 (GRCm39)	S453G		Het
Rxfp2	C	T	5: 149,942,262 (GRCm39)		probably benign	Het
S100a8	A	G	3: 90,576,865 (GRCm39)	E6G	probably damaging	Het
Sart1	T	C	19: 5,438,376 (GRCm39)	K94E	probably damaging	Het
Sema4d	A	T	13: 51,865,546 (GRCm39)	F297I	probably damaging	Het
Sgk2	A	G	2: 162,848,723 (GRCm39)	K287E	probably damaging	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Skint6	G	T	4: 112,661,891 (GRCm39)	T1231K	possibly damaging	Het
Slc35b3	C	T	13: 39,121,722 (GRCm39)		probably benign	Het
Slf1	A	T	13: 77,214,784 (GRCm39)	M634K	probably benign	Het
Slit2	A	G	5: 48,460,190 (GRCm39)	D1424G	probably benign	Het
Snx21	G	A	2: 164,628,749 (GRCm39)	V131I	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tas1r3	A	G	4: 155,945,848 (GRCm39)	V516A	probably benign	Het
Tas2r120	A	T	6: 132,634,081 (GRCm39)	R54S	probably damaging	Het
Tmem109	A	T	19: 10,849,995 (GRCm39)	L99Q	probably damaging	Het
Tnfrsf1b	A	G	4: 144,946,485 (GRCm39)	S309P	possibly damaging	Het
Trav11	C	T	14: 53,757,227 (GRCm39)	A85V	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttn	G	A	2: 76,653,314 (GRCm39)	R12631C	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,917 (GRCm39)	T678S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,933 (GRCm39)	M209T	possibly damaging	Het
Vmn2r24	A	T	6: 123,757,500 (GRCm39)	M123L	probably benign	Het
Wdr41	T	G	13: 95,151,575 (GRCm39)	L245R	possibly damaging	Het
Wwp2	G	T	8: 108,283,189 (GRCm39)	G814W	probably null	Het

Other mutations in Fbxo30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Fbxo30	APN	10	11,166,283 (GRCm39)	missense	probably benign	0.01
IGL00971:Fbxo30	APN	10	11,166,042 (GRCm39)	missense	probably benign
IGL02388:Fbxo30	APN	10	11,166,122 (GRCm39)	missense	probably benign	0.01
PIT4468001:Fbxo30	UTSW	10	11,166,700 (GRCm39)	missense	possibly damaging	0.95
R0014:Fbxo30	UTSW	10	11,165,603 (GRCm39)	nonsense	probably null
R0144:Fbxo30	UTSW	10	11,170,964 (GRCm39)	missense	probably damaging	1.00
R0709:Fbxo30	UTSW	10	11,167,057 (GRCm39)	missense	possibly damaging	0.79
R1583:Fbxo30	UTSW	10	11,167,118 (GRCm39)	missense	possibly damaging	0.67
R1791:Fbxo30	UTSW	10	11,165,531 (GRCm39)	nonsense	probably null
R2018:Fbxo30	UTSW	10	11,166,772 (GRCm39)	missense	probably damaging	0.98
R2317:Fbxo30	UTSW	10	11,166,078 (GRCm39)	missense	probably damaging	0.98
R3842:Fbxo30	UTSW	10	11,165,856 (GRCm39)	missense	probably damaging	0.98
R4579:Fbxo30	UTSW	10	11,165,293 (GRCm39)	missense	probably benign	0.00
R4655:Fbxo30	UTSW	10	11,166,837 (GRCm39)	missense	probably damaging	1.00
R4751:Fbxo30	UTSW	10	11,165,939 (GRCm39)	missense	probably benign	0.01
R4998:Fbxo30	UTSW	10	11,166,507 (GRCm39)	missense	probably damaging	0.98
R5325:Fbxo30	UTSW	10	11,166,846 (GRCm39)	missense	possibly damaging	0.89
R5463:Fbxo30	UTSW	10	11,166,813 (GRCm39)	missense	probably damaging	1.00
R5534:Fbxo30	UTSW	10	11,165,409 (GRCm39)	missense	possibly damaging	0.91
R5594:Fbxo30	UTSW	10	11,166,223 (GRCm39)	missense	probably benign	0.13
R5757:Fbxo30	UTSW	10	11,166,165 (GRCm39)	missense	probably benign	0.08
R5917:Fbxo30	UTSW	10	11,165,262 (GRCm39)	critical splice acceptor site	probably null
R6232:Fbxo30	UTSW	10	11,165,602 (GRCm39)	missense	possibly damaging	0.90
R6472:Fbxo30	UTSW	10	11,166,975 (GRCm39)	missense	probably damaging	1.00
R6677:Fbxo30	UTSW	10	11,166,380 (GRCm39)	missense	possibly damaging	0.61
R6802:Fbxo30	UTSW	10	11,167,224 (GRCm39)	missense	probably damaging	1.00
R7128:Fbxo30	UTSW	10	11,165,860 (GRCm39)	nonsense	probably null
R8353:Fbxo30	UTSW	10	11,166,479 (GRCm39)	missense	probably benign	0.30
R8453:Fbxo30	UTSW	10	11,166,479 (GRCm39)	missense	probably benign	0.30
R9215:Fbxo30	UTSW	10	11,167,243 (GRCm39)	missense	probably damaging	1.00
R9702:Fbxo30	UTSW	10	11,166,382 (GRCm39)	missense	probably benign	0.04
X0012:Fbxo30	UTSW	10	11,166,210 (GRCm39)	missense	probably benign	0.00
X0066:Fbxo30	UTSW	10	11,166,556 (GRCm39)	missense	probably damaging	1.00
Z1176:Fbxo30	UTSW	10	11,171,064 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTGCTTAAGTTCCTGTAAGAGG -3'
(R):5'- TGCCAGGGTAAATGGACATC -3'

Sequencing Primer
(F):5'- CAGTGGTTTGATTTATTATGCA -3'
(R):5'- TGGACATCCAAAGTTTCTATTTAAGC -3'

Posted On

2021-04-30