Mutagenetix > Incidental Mutation

Incidental Mutation 'R7794:Fbxl17'

600152

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

045850-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R7794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63364447-63807012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63663806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 561 (I561T)

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: I561T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: I561T

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 damaging
Transcript: ENSMUST00000112840
AA Change: I80T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: I80T

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,117,022 (GRCm39)	M542K	possibly damaging	Het
Abcc3	T	A	11: 94,249,697 (GRCm39)	I1083F	probably benign	Het
Acsm5	A	G	7: 119,137,352 (GRCm39)		probably benign	Het
Acyp1	G	T	12: 85,335,053 (GRCm39)	A22E	probably benign	Het
Afdn	C	A	17: 14,102,695 (GRCm39)	A1090E	probably damaging	Het
Ahdc1	T	G	4: 132,791,289 (GRCm39)	D843E	possibly damaging	Het
Bahcc1	G	T	11: 120,163,507 (GRCm39)	E602*	probably null	Het
Bora	A	G	14: 99,310,080 (GRCm39)	T470A	possibly damaging	Het
Bzw1	T	A	1: 58,439,959 (GRCm39)	S166T	probably benign	Het
Car13	A	G	3: 14,719,948 (GRCm39)	H120R	probably damaging	Het
Cstf3	G	A	2: 104,420,926 (GRCm39)	⇒1	probably benign	Het
Dip2a	T	C	10: 76,112,459 (GRCm39)	N1080D	probably damaging	Het
Dis3	A	G	14: 99,336,233 (GRCm39)	L91P	probably benign	Het
E2f6	A	G	12: 16,870,370 (GRCm39)	D174G	possibly damaging	Het
Emsy	A	T	7: 98,249,931 (GRCm39)	S785R	probably benign	Het
Gabra6	A	T	11: 42,211,868 (GRCm39)		probably null	Het
Gm47996	C	G	1: 151,086,545 (GRCm39)	P209A	possibly damaging	Het
Hcls1	A	G	16: 36,782,426 (GRCm39)	E365G	probably damaging	Het
Hoxa6	T	A	6: 52,183,548 (GRCm39)	T166S	possibly damaging	Het
Hydin	A	G	8: 111,235,715 (GRCm39)	Y1900C	probably damaging	Het
I0C0044D17Rik	T	C	4: 98,708,582 (GRCm39)		probably benign	Het
Ifitm7	T	C	16: 13,801,610 (GRCm39)	T50A	probably benign	Het
Igkv10-95	A	G	6: 68,657,811 (GRCm39)	Q109R	possibly damaging	Het
Il1rap	A	T	16: 26,541,658 (GRCm39)	H633L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kmt2e	G	A	5: 23,669,714 (GRCm39)	G67D	probably damaging	Het
Kpna6	T	C	4: 129,541,844 (GRCm39)	T518A	probably benign	Het
Marchf11	A	G	15: 26,409,284 (GRCm39)	I328V	probably benign	Het
Mbtps1	A	G	8: 120,265,623 (GRCm39)	I308T	probably damaging	Het
Mug1	A	T	6: 121,833,247 (GRCm39)	D284V	possibly damaging	Het
Myo16	A	G	8: 10,619,913 (GRCm39)	K1488R	unknown	Het
Myom2	G	A	8: 15,133,259 (GRCm39)	G384R	probably damaging	Het
Naa16	A	G	14: 79,614,934 (GRCm39)	Y189H	probably damaging	Het
Nav3	G	A	10: 109,524,717 (GRCm39)	A2304V	probably benign	Het
Or12e10	T	A	2: 87,640,818 (GRCm39)	V218E	probably damaging	Het
Or14c46	T	A	7: 85,918,341 (GRCm39)	I219L	probably damaging	Het
Or14j5	A	T	17: 38,161,678 (GRCm39)	Q65L	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Pan2	T	C	10: 128,152,396 (GRCm39)		probably null	Het
Pcdhb20	A	G	18: 37,637,485 (GRCm39)	R4G	probably benign	Het
Poc1b	A	G	10: 98,965,460 (GRCm39)	S130G	possibly damaging	Het
Psme2b	A	G	11: 48,836,683 (GRCm39)	V88A	probably benign	Het
Ptpn13	C	T	5: 103,640,090 (GRCm39)	T183M	probably benign	Het
Ptpn4	T	C	1: 119,653,767 (GRCm39)	E275G	probably damaging	Het
Rab21	A	T	10: 115,134,762 (GRCm39)	L119*	probably null	Het
Rep15	T	A	6: 146,934,638 (GRCm39)	I159N	probably damaging	Het
Rps6kc1	T	C	1: 190,515,825 (GRCm39)	E967G	probably benign	Het
Rptn	G	A	3: 93,303,036 (GRCm39)	R123K	probably benign	Het
Scn11a	A	T	9: 119,594,580 (GRCm39)	V1271D	probably damaging	Het
Scn5a	A	T	9: 119,358,153 (GRCm39)	I696N	probably damaging	Het
Slc25a12	T	C	2: 71,141,852 (GRCm39)	E267G	probably damaging	Het
Slc5a4b	A	T	10: 75,898,133 (GRCm39)	M527K	probably benign	Het
Spata31e4	C	G	13: 50,856,344 (GRCm39)	P661A	probably damaging	Het
Speg	T	A	1: 75,365,514 (GRCm39)	S632T	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Synrg	G	T	11: 83,910,400 (GRCm39)	M933I	probably benign	Het
Tmem178b	A	T	6: 40,222,551 (GRCm39)	I89F	probably damaging	Het
Tyr	C	T	7: 87,133,028 (GRCm39)		probably null	Het
Usp30	T	A	5: 114,251,033 (GRCm39)	C237*	probably null	Het
Xpo6	G	T	7: 125,760,035 (GRCm39)	T188K	probably damaging	Het
Zfp382	G	A	7: 29,831,035 (GRCm39)	S108N	possibly damaging	Het
Zfp820	A	C	17: 22,039,109 (GRCm39)	V73G	probably damaging	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
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
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'- GCACTGAAGAGTCTTTCTGAACC -3'
(R):5'- GCACTTCCTGTCACATGTCG -3'

Sequencing Primer
(F):5'- TGCCTTCGCAGACACAG -3'
(R):5'- GTTGCCCGCTCATATATTCATCATAG -3'

Posted On

2019-11-26