Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Fbxl17'

606342

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

045895-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63364447-63807012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63794820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 421 (R421G)

Ref Sequence

ENSEMBL: ENSMUSP00000024761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024761] [ENSMUST00000112840]

AlphaFold

Q9QZN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000024761
AA Change: R421G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: R421G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112840

SMART Domains

Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965

Domain	Start	End	E-Value	Type
LRR	8	33	1.2e1	SMART
LRR	34	58	6.57e-1	SMART
LRR	59	83	4.67e1	SMART
low complexity region	86	99	N/A	INTRINSIC
LRR	110	134	1.89e-1	SMART
LRR	135	160	5.25e1	SMART
LRR	161	186	1.47e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,802,806 (GRCm39)	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,790,112 (GRCm39)	F210L	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
B9d1	A	G	11: 61,397,192 (GRCm39)	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,722,696 (GRCm39)	F115L	unknown	Het
Ccnd1	A	T	7: 144,491,718 (GRCm39)	M107K	probably damaging	Het
Ccnh	G	A	13: 85,337,712 (GRCm39)	A20T	probably benign	Het
Cep162	T	C	9: 87,126,369 (GRCm39)	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,561,692 (GRCm39)	D262G	probably benign	Het
Cic	A	G	7: 24,985,192 (GRCm39)	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 105,036,108 (GRCm39)	R174C	possibly damaging	Het
Cobl	G	T	11: 12,203,324 (GRCm39)	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,245,876 (GRCm39)	M460K	unknown	Het
Cst11	G	A	2: 148,613,227 (GRCm39)	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,079,089 (GRCm39)	V340E	probably benign	Het
Dbt	A	T	3: 116,339,746 (GRCm39)	Q378L	possibly damaging	Het
Dchs1	A	G	7: 105,412,180 (GRCm39)	V1312A	probably benign	Het
Eif3l	T	C	15: 78,973,779 (GRCm39)	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584 (GRCm39)	H247R	probably benign	Het
Fbxo3	T	A	2: 103,890,337 (GRCm39)	D450E	unknown	Het
Fmn1	T	C	2: 113,359,810 (GRCm39)		probably null	Het
Foxs1	T	A	2: 152,774,907 (GRCm39)	M49L	possibly damaging	Het
Gucy1a2	A	G	9: 3,634,766 (GRCm39)	E270G	probably benign	Het
Helz2	T	C	2: 180,874,695 (GRCm39)	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,157,887 (GRCm39)	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072 (GRCm39)	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,056,352 (GRCm39)	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,144,628 (GRCm39)	L105P	probably damaging	Het
Iqca1	A	T	1: 89,987,337 (GRCm39)	C72S		Het
Itgbl1	T	C	14: 124,209,645 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,699 (GRCm39)	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,671,415 (GRCm39)	E198G	probably damaging	Het
Lama2	T	C	10: 27,031,529 (GRCm39)	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,391,931 (GRCm39)	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,384,267 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,989,518 (GRCm39)	E1546G	probably damaging	Het
Nacad	A	T	11: 6,551,031 (GRCm39)	V720E	probably benign	Het
Napa	A	G	7: 15,849,559 (GRCm39)	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,487,042 (GRCm39)	V76A	probably damaging	Het
Nkapd1	A	C	9: 50,521,716 (GRCm39)	S68R	probably damaging	Het
Nphp4	G	A	4: 152,581,140 (GRCm39)	S108N	probably benign	Het
Npr1	A	T	3: 90,362,175 (GRCm39)	L990H	probably damaging	Het
Nup205	A	G	6: 35,224,372 (GRCm39)	R322G	unknown	Het
Or4a79	C	A	2: 89,552,309 (GRCm39)	A49S	probably benign	Het
Or4q3	G	T	14: 50,583,285 (GRCm39)	Q174K	probably benign	Het
Or52n2c	T	A	7: 104,574,066 (GRCm39)	I302F	possibly damaging	Het
Or8c14-ps1	T	G	9: 38,101,777 (GRCm39)	M252R	unknown	Het
Or8c19-ps1	T	A	9: 38,220,817 (GRCm39)	V242E	unknown	Het
Ovch2	G	T	7: 107,393,298 (GRCm39)	Q192K	probably benign	Het
Pcca	T	A	14: 122,800,384 (GRCm39)	D91E	probably benign	Het
Pole2	T	C	12: 69,251,032 (GRCm39)	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,173,276 (GRCm39)	K466E	probably benign	Het
Prr35	A	T	17: 26,167,458 (GRCm39)	Y26*	probably null	Het
Ptgfrn	A	T	3: 100,968,126 (GRCm39)	I489N	probably damaging	Het
Rassf1	A	G	9: 107,438,744 (GRCm39)	*341W	probably null	Het
Ret	G	A	6: 118,132,321 (GRCm39)	P1040S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Slc6a17	A	T	3: 107,384,214 (GRCm39)	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,078,754 (GRCm39)	D1806E	probably benign	Het
Synj2	G	A	17: 6,094,419 (GRCm39)	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 51,106,950 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,913,176 (GRCm39)	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,115,353 (GRCm39)	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,115,354 (GRCm39)	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,174,267 (GRCm39)	H253R	probably damaging	Het
Ttn	T	C	2: 76,662,490 (GRCm39)	I23V		Het
Ubr5	T	C	15: 37,981,150 (GRCm39)	N2376D		Het
Ugt2b37	T	C	5: 87,398,489 (GRCm39)	N316D	probably benign	Het
Usp31	A	C	7: 121,247,679 (GRCm39)	S1255A	probably benign	Het
Usp31	A	T	7: 121,276,535 (GRCm39)	V334E	probably damaging	Het
Vmn2r108	A	G	17: 20,690,305 (GRCm39)		probably null	Het
Vmn2r87	T	A	10: 130,333,095 (GRCm39)	T52S	probably benign	Het
Vrk2	C	A	11: 26,421,457 (GRCm39)	L500F	probably damaging	Het
Zan	T	A	5: 137,435,064 (GRCm39)	I2110F	unknown	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
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
R9660:Fbxl17	UTSW	17	63,806,426 (GRCm39)	missense	probably benign	0.00
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'- GCGGTGACAGTTCTTTAATCAGTG -3'
(R):5'- ACTCTGACACTCGGAAGGTTC -3'

Sequencing Primer
(F):5'- TGTGTGAAATCTCTCAGAAAAGGCC -3'
(R):5'- ATAGTTTTCCACTTCCAGCAAAG -3'

Posted On

2019-12-20