Mutagenetix > Incidental Mutation

Incidental Mutation 'R9660:Fbxl17'

727547

Institutional Source

Beutler Lab

Gene Symbol

Fbxl17

Ensembl Gene

ENSMUSG00000023965

Gene Name

F-box and leucine-rich repeat protein 17

Synonyms

6330576B01Rik, C130023C01Rik, Fbxo13, Fbx13

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R9660 (G1)

Quality Score

132.008

Status

Not validated

Chromosome

Chromosomal Location

63364447-63807012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63806426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 196 (M196K)

Ref Sequence

ENSEMBL: ENSMUSP00000024761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024761]

AlphaFold

Q9QZN1

Predicted Effect

probably benign
Transcript: ENSMUST00000024761
AA Change: M196K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: M196K

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
low complexity region	76	89	N/A	INTRINSIC
low complexity region	103	138	N/A	INTRINSIC
low complexity region	180	193	N/A	INTRINSIC
low complexity region	214	245	N/A	INTRINSIC
low complexity region	246	270	N/A	INTRINSIC
FBOX	324	365	3.1e-8	SMART
LRR	359	384	4.6e-1	SMART
LRR	385	410	2e-1	SMART
LRR	411	436	8.5e-2	SMART
LRR	437	462	6.9e-4	SMART
LRR	463	488	1.3e-5	SMART
LRR	489	514	5.2e-2	SMART
LRR	515	539	2.9e-3	SMART
LRR	540	564	2e-1	SMART
low complexity region	567	580	N/A	INTRINSIC
LRR	591	615	8.4e-4	SMART
LRR	616	641	2.2e-1	SMART
LRR	642	667	6.3e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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 FBXL17, 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,478 (GRCm39)	M819V	probably benign	Het
Abca5	T	A	11: 110,168,248 (GRCm39)	T1461S	possibly damaging	Het
Actl6b	C	T	5: 137,562,766 (GRCm39)	R161C	probably damaging	Het
Aoc3	C	G	11: 101,221,914 (GRCm39)	P50R	possibly damaging	Het
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Cdh11	C	T	8: 103,384,879 (GRCm39)	G399S	possibly damaging	Het
Chrna10	G	T	7: 101,761,416 (GRCm39)	L392I	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disp2	T	C	2: 118,620,627 (GRCm39)	V453A	probably benign	Het
Dpp9	A	G	17: 56,494,458 (GRCm39)	Y834H	probably damaging	Het
Emsy	A	G	7: 98,262,285 (GRCm39)	I598T	possibly damaging	Het
Entpd2	C	T	2: 25,288,153 (GRCm39)	R126C	probably damaging	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gga2	A	T	7: 121,606,494 (GRCm39)	M157K	possibly damaging	Het
Gna11	T	C	10: 81,370,918 (GRCm39)	N106S	probably benign	Het
Gtf3c1	A	C	7: 125,262,199 (GRCm39)	S1116A	possibly damaging	Het
Gucy2d	C	A	7: 98,099,064 (GRCm39)	D294E	probably damaging	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Kmt2e	T	C	5: 23,683,617 (GRCm39)	Y292H	probably damaging	Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Ly75	A	G	2: 60,154,184 (GRCm39)	S1088P	probably damaging	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Necab2	T	C	8: 120,189,403 (GRCm39)	V191A	possibly damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Nr4a3	A	G	4: 48,051,353 (GRCm39)	T36A	probably benign	Het
Nup210l	A	G	3: 90,105,402 (GRCm39)	T1517A	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or4a27	T	C	2: 88,559,142 (GRCm39)	K267R	probably damaging	Het
Or4g17	T	G	2: 111,210,239 (GRCm39)	I298R	probably damaging	Het
Or4p23	T	C	2: 88,576,872 (GRCm39)	Y120C	probably damaging	Het
Or51h7	C	T	7: 102,591,259 (GRCm39)	C175Y	probably damaging	Het
Pcnx2	A	T	8: 126,487,592 (GRCm39)	S1804T	probably damaging	Het
Pdcd11	T	A	19: 47,082,191 (GRCm39)	V35D	possibly damaging	Het
Pde10a	C	A	17: 9,170,370 (GRCm39)	T347K	probably damaging	Het
Rcc1l	A	G	5: 134,182,977 (GRCm39)	Y432H	probably benign	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Ripor3	T	A	2: 167,831,646 (GRCm39)	D385V	probably damaging	Het
Rrbp1	T	C	2: 143,831,178 (GRCm39)	K330E	probably damaging	Het
Ryr3	T	G	2: 112,664,074 (GRCm39)	D1759A	probably benign	Het
Scube3	A	G	17: 28,371,414 (GRCm39)	D43G	probably benign	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc1a6	T	A	10: 78,648,698 (GRCm39)	M473K	probably benign	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Spag6	C	A	2: 18,704,047 (GRCm39)	Q32K	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Togaram2	T	A	17: 72,024,365 (GRCm39)	S850T	probably damaging	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trpm2	T	A	10: 77,766,389 (GRCm39)	I877L	probably benign	Het
Ttn	T	C	2: 76,599,152 (GRCm39)	I19286V	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	Het

Other mutations in Fbxl17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Fbxl17	APN	17	63,692,047 (GRCm39)	missense	probably damaging	1.00
IGL02201:Fbxl17	APN	17	63,806,024 (GRCm39)	missense	probably damaging	1.00
IGL02256:Fbxl17	APN	17	63,806,085 (GRCm39)	missense	probably benign
IGL03408:Fbxl17	APN	17	63,387,541 (GRCm39)	nonsense	probably null
R0268:Fbxl17	UTSW	17	63,692,062 (GRCm39)	splice site	probably benign
R0269:Fbxl17	UTSW	17	63,691,987 (GRCm39)	missense	probably damaging	0.99
R0313:Fbxl17	UTSW	17	63,663,846 (GRCm39)	missense	probably damaging	1.00
R0315:Fbxl17	UTSW	17	63,663,846 (GRCm39)	missense	probably damaging	1.00
R0344:Fbxl17	UTSW	17	63,692,062 (GRCm39)	splice site	probably benign
R0356:Fbxl17	UTSW	17	63,663,846 (GRCm39)	missense	probably damaging	1.00
R0358:Fbxl17	UTSW	17	63,663,846 (GRCm39)	missense	probably damaging	1.00
R0553:Fbxl17	UTSW	17	63,663,846 (GRCm39)	missense	probably damaging	1.00
R0617:Fbxl17	UTSW	17	63,691,987 (GRCm39)	missense	probably damaging	0.99
R0629:Fbxl17	UTSW	17	63,778,409 (GRCm39)	missense	probably damaging	1.00
R1597:Fbxl17	UTSW	17	63,794,813 (GRCm39)	missense	probably damaging	1.00
R1666:Fbxl17	UTSW	17	63,692,060 (GRCm39)	splice site	probably null
R3001:Fbxl17	UTSW	17	63,532,072 (GRCm39)	missense	probably damaging	0.99
R3002:Fbxl17	UTSW	17	63,532,072 (GRCm39)	missense	probably damaging	0.99
R3121:Fbxl17	UTSW	17	63,778,419 (GRCm39)	missense	probably damaging	0.96
R3909:Fbxl17	UTSW	17	63,806,802 (GRCm39)	missense	possibly damaging	0.93
R4789:Fbxl17	UTSW	17	63,794,910 (GRCm39)	missense	probably benign	0.40
R6606:Fbxl17	UTSW	17	63,794,783 (GRCm39)	missense	probably damaging	0.97
R7153:Fbxl17	UTSW	17	63,367,346 (GRCm39)	missense	probably benign	0.09
R7722:Fbxl17	UTSW	17	63,663,823 (GRCm39)	missense	probably damaging	0.99
R7794:Fbxl17	UTSW	17	63,663,806 (GRCm39)	missense	probably damaging	0.97
R7841:Fbxl17	UTSW	17	63,794,820 (GRCm39)	missense	probably damaging	1.00
R8076:Fbxl17	UTSW	17	63,367,360 (GRCm39)	missense	probably damaging	0.99
R8178:Fbxl17	UTSW	17	63,794,967 (GRCm39)	splice site	probably null
R8338:Fbxl17	UTSW	17	63,663,753 (GRCm39)	missense	possibly damaging	0.93
R8873:Fbxl17	UTSW	17	63,691,971 (GRCm39)	missense	probably damaging	0.99
R9113:Fbxl17	UTSW	17	63,532,085 (GRCm39)	missense	probably benign	0.09
R9431:Fbxl17	UTSW	17	63,387,489 (GRCm39)	missense	probably damaging	1.00
R9444:Fbxl17	UTSW	17	63,778,455 (GRCm39)	missense	probably damaging	0.98
R9581:Fbxl17	UTSW	17	63,806,525 (GRCm39)	missense	probably benign
R9756:Fbxl17	UTSW	17	63,367,310 (GRCm39)	missense	probably damaging	0.98
X0019:Fbxl17	UTSW	17	63,367,378 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAGTCGCAGGGGTTTTC -3'
(R):5'- TCTGCTTCATCGTGCACAG -3'

Sequencing Primer
(F):5'- ATGGGGGCACACTCTGAG -3'
(R):5'- GTCTCCTCGCAGCACTTGG -3'

Posted On

2022-10-06