Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Fbxo30'

555649

Institutional Source

Beutler Lab

Gene Symbol

Fbxo30

Ensembl Gene

ENSMUSG00000047648

Gene Name

F-box protein 30

Synonyms

1700026A16Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4468001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11157074-11173796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11166700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 474 (M474K)

Ref Sequence

ENSEMBL: ENSMUSP00000068230 (fasta)

Gene Model

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

AlphaFold

Q8BJL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070300
AA Change: M474K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068230
Gene: ENSMUSG00000047648
AA Change: M474K

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

possibly damaging
Transcript: ENSMUST00000129456
AA Change: M474K

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117687
Gene: ENSMUSG00000047648
AA Change: M474K

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: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940 (GRCm38)	L34F	probably damaging	Het
Alms1	T	C	6: 85,601,701 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,133,143 (GRCm39)	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,956,190 (GRCm39)	H35L	probably benign	Het
Cep85	T	C	4: 133,876,008 (GRCm39)	N468S	probably damaging	Het
Chd8	T	C	14: 52,455,338 (GRCm39)	I1050V	possibly damaging	Het
Chd8	A	C	14: 52,445,453 (GRCm39)	D1709E	probably benign	Het
Clec9a	G	A	6: 129,396,597 (GRCm39)		probably null	Het
Cyp2c70	T	A	19: 40,153,806 (GRCm39)	D261V	probably damaging	Het
Deup1	T	C	9: 15,475,301 (GRCm39)	N420D	possibly damaging	Het
Dpys	T	A	15: 39,720,601 (GRCm39)	D53V	probably damaging	Het
Edem1	A	G	6: 108,821,828 (GRCm39)	E295G	probably damaging	Het
Farp2	G	T	1: 93,456,499 (GRCm39)	E61*	probably null	Het
Fat3	T	G	9: 15,907,647 (GRCm39)	D2785A	probably benign	Het
Gm13090	C	A	4: 151,175,539 (GRCm39)	P93Q	unknown	Het
Gm21976	A	T	13: 98,443,535 (GRCm39)	R229*	probably null	Het
Gpr108	A	T	17: 57,554,563 (GRCm39)	L25Q	probably null	Het
Hdac9	C	A	12: 34,145,933 (GRCm39)	V920F	unknown	Het
Ighv13-2	T	C	12: 114,321,593 (GRCm39)	S49G	probably benign	Het
Krt6a	T	C	15: 101,602,352 (GRCm39)	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463 (GRCm39)	S775P	possibly damaging	Het
Mki67	A	G	7: 135,300,876 (GRCm39)	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,942,294 (GRCm39)	E352G	probably damaging	Het
Nfya	A	G	17: 48,702,805 (GRCm39)	M61T	unknown	Het
Ntn4	A	G	10: 93,480,587 (GRCm39)	T104A	probably damaging	Het
Numb	G	A	12: 83,854,921 (GRCm39)	T135I	probably damaging	Het
Or4b12	C	A	2: 90,096,564 (GRCm39)	C70F	probably benign	Het
Or52ab4	A	C	7: 102,987,807 (GRCm39)	E182A	probably damaging	Het
Or5m5	A	T	2: 85,814,792 (GRCm39)	T203S	probably benign	Het
Parpbp	A	C	10: 87,979,935 (GRCm39)	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,489,686 (GRCm39)	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,880,936 (GRCm39)	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,872,527 (GRCm39)	C785*	probably null	Het
Pkd1l3	A	G	8: 110,391,131 (GRCm39)	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,805,136 (GRCm39)	I350N	probably benign	Het
Rc3h2	C	A	2: 37,289,651 (GRCm39)	G387V	probably damaging	Het
Rfwd3	T	C	8: 112,009,352 (GRCm39)	H408R	probably benign	Het
Rpl3l	A	G	17: 24,954,457 (GRCm39)	T173A	probably benign	Het
Sdad1	T	C	5: 92,439,777 (GRCm39)	D416G	probably damaging	Het
Srp72	C	A	5: 77,142,053 (GRCm39)	T430K	probably benign	Het
Steap1	C	A	5: 5,786,642 (GRCm39)	G265V	probably damaging	Het
Sulf2	A	T	2: 165,922,720 (GRCm39)	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,730,820 (GRCm39)	D16V	probably damaging	Het
Tmem100	T	A	11: 89,926,187 (GRCm39)	S5T	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Trak1	T	C	9: 121,282,398 (GRCm39)	S436P	probably benign	Het
Ttyh1	T	C	7: 4,122,771 (GRCm39)	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 34,111,569 (GRCm39)	S275C	probably benign	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,071,861 (GRCm39)	T222M	probably benign	Het
Usp42	T	A	5: 143,700,399 (GRCm39)	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,816,557 (GRCm39)	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,313,884 (GRCm39)	L164R	probably damaging	Het
Vwa8	G	T	14: 79,420,501 (GRCm39)	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,146,476 (GRCm39)	R117L	probably benign	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
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
R8796:Fbxo30	UTSW	10	11,165,320 (GRCm39)	missense	probably damaging	1.00
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'- AAGTTGCAGAAGATCCCATGG -3'
(R):5'- CCAGCATGAATGTCACCATG -3'

Sequencing Primer
(F):5'- GGCCTCCAAGGAATAGATCTGATTAC -3'
(R):5'- TGAATGTCACCATGCACATTC -3'

Posted On

2019-06-07