Mutagenetix > Incidental Mutation

Incidental Mutation 'R8338:Fbxl17'

644773

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

067730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R8338 (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 63663753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 579 (I579V)

Ref Sequence

ENSEMBL: ENSMUSP00000024761 (fasta)

Gene Model

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

AlphaFold

Q9QZN1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024761
AA Change: I579V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024761
Gene: ENSMUSG00000023965
AA Change: I579V

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

possibly damaging
Transcript: ENSMUST00000112840
AA Change: I98V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108459
Gene: ENSMUSG00000023965
AA Change: I98V

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: 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	C	5: 137,290,006 (GRCm39)	L445P	probably damaging	Het
Agrn	G	A	4: 156,253,018 (GRCm39)	T1773I	probably benign	Het
Arap3	A	G	18: 38,106,683 (GRCm39)	S1387P	probably damaging	Het
Bcl11a	G	C	11: 24,114,578 (GRCm39)	K640N	probably damaging	Het
Bicd1	G	A	6: 149,414,621 (GRCm39)	V445I	probably benign	Het
Bltp3a	A	G	17: 28,095,669 (GRCm39)	N26S	probably damaging	Het
C2cd6	A	C	1: 59,099,734 (GRCm39)	N402K	probably benign	Het
Celsr3	C	T	9: 108,704,539 (GRCm39)	Q341*	probably null	Het
Cers1	A	G	8: 70,783,772 (GRCm39)	E240G	possibly damaging	Het
Cfap157	G	T	2: 32,668,018 (GRCm39)	T441N	possibly damaging	Het
Cfap44	G	A	16: 44,239,698 (GRCm39)		probably null	Het
Chd1	A	G	17: 15,990,242 (GRCm39)	Y1598C	probably damaging	Het
Ckap2l	T	G	2: 129,126,939 (GRCm39)	Q413P	probably damaging	Het
Cobl	T	C	11: 12,203,696 (GRCm39)	E1002G	probably benign	Het
Cryge	G	A	1: 65,087,933 (GRCm39)	T156M	unknown	Het
Cubn	A	C	2: 13,435,658 (GRCm39)	F1099L	probably benign	Het
Cyp7b1	T	C	3: 18,151,730 (GRCm39)	E161G	probably benign	Het
Dnah10	A	G	5: 124,909,566 (GRCm39)	E4452G	probably damaging	Het
Dnah2	C	T	11: 69,378,122 (GRCm39)	R1273Q	probably damaging	Het
Dnah3	T	C	7: 119,671,104 (GRCm39)	E593G	probably benign	Het
Dnah9	C	A	11: 65,732,067 (GRCm39)		probably null	Het
Dnajc22	C	A	15: 98,999,022 (GRCm39)	P69Q	probably benign	Het
Fam171a2	T	A	11: 102,329,172 (GRCm39)	D529V	probably benign	Het
Fry	C	T	5: 150,282,516 (GRCm39)	T347M	probably damaging	Het
Gm13272	A	C	4: 88,698,364 (GRCm39)	D93A	probably benign	Het
Grm4	A	T	17: 27,653,977 (GRCm39)	F658I	probably damaging	Het
Hmcn1	G	A	1: 150,614,485 (GRCm39)	T1307I	probably benign	Het
Igkv12-98	G	A	6: 68,548,159 (GRCm39)	S96N	probably benign	Het
Il2ra	A	T	2: 11,687,885 (GRCm39)	T222S	probably benign	Het
Il5ra	G	T	6: 106,689,350 (GRCm39)	T414K	probably benign	Het
Isg15	T	A	4: 156,284,088 (GRCm39)	I147F	probably benign	Het
Kif14	C	A	1: 136,422,416 (GRCm39)	A902E	probably damaging	Het
Lcat	G	A	8: 106,666,719 (GRCm39)	R268C	probably damaging	Het
Lipa	T	C	19: 34,471,477 (GRCm39)	N366S	probably benign	Het
Lrp4	A	G	2: 91,322,713 (GRCm39)	T1101A	probably benign	Het
Man1a	T	A	10: 53,801,643 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,726,372 (GRCm39)	D23G	probably benign	Het
Morc2b	A	T	17: 33,355,387 (GRCm39)	M795K	probably benign	Het
Msantd5f1	T	A	4: 73,605,435 (GRCm39)	M282K	possibly damaging	Het
Mycbp2	T	A	14: 103,372,701 (GRCm39)	E4048D	probably damaging	Het
Myo7b	A	G	18: 32,104,408 (GRCm39)	S1447P	probably damaging	Het
Myt1	A	T	2: 181,443,655 (GRCm39)	T536S	possibly damaging	Het
Nod1	A	T	6: 54,920,956 (GRCm39)	L454Q	probably damaging	Het
Nrf1	T	A	6: 30,140,247 (GRCm39)	W199R		Het
Or10w1	T	A	19: 13,632,216 (GRCm39)	M141K	possibly damaging	Het
Or13a27	T	A	7: 139,925,306 (GRCm39)	M199L	probably benign	Het
Or14c44	T	C	7: 86,061,702 (GRCm39)	I44T	probably benign	Het
Or8k27	A	T	2: 86,275,729 (GRCm39)	M199K	probably benign	Het
Or9a4	T	C	6: 40,548,910 (GRCm39)	F197L	probably benign	Het
Ostn	G	T	16: 27,143,285 (GRCm39)	A38S	probably benign	Het
Paxbp1	A	T	16: 90,833,435 (GRCm39)	D266E	probably damaging	Het
Pcdhb14	G	T	18: 37,582,175 (GRCm39)	G427V	probably damaging	Het
Pdzrn3	A	T	6: 101,127,783 (GRCm39)	M961K	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,884,632 (GRCm39)	D148G	probably damaging	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rccd1	A	T	7: 79,970,618 (GRCm39)	L54Q	possibly damaging	Het
Rfx6	T	A	10: 51,594,190 (GRCm39)	V370E	probably damaging	Het
Sdr16c6	C	T	4: 4,076,620 (GRCm39)	C93Y	probably damaging	Het
Shroom1	A	G	11: 53,354,107 (GRCm39)	D9G	probably benign	Het
Snrpe	A	G	1: 133,536,681 (GRCm39)	V33A	probably benign	Het
Spats2	T	A	15: 99,076,340 (GRCm39)	D139E	probably damaging	Het
Spopfm1	A	G	3: 94,173,285 (GRCm39)	I94V	possibly damaging	Het
St18	A	G	1: 6,879,516 (GRCm39)	E405G	probably damaging	Het
Strap	A	T	6: 137,718,976 (GRCm39)	E176V	possibly damaging	Het
Stxbp5l	G	T	16: 36,994,718 (GRCm39)	T729K	probably damaging	Het
Synj2bp	G	A	12: 81,551,326 (GRCm39)	Q97*	probably null	Het
Tbc1d32	T	A	10: 55,904,173 (GRCm39)	Q1198L	possibly damaging	Het
Tmem98	T	C	11: 80,712,135 (GRCm39)	S191P	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Treh	A	G	9: 44,595,808 (GRCm39)	N366S	probably benign	Het
Ttn	T	G	2: 76,750,136 (GRCm39)	S3638R	probably benign	Het
Uggt1	A	G	1: 36,266,602 (GRCm39)	L124P	probably damaging	Het
V1rd19	A	T	7: 23,702,674 (GRCm39)	K47*	probably null	Het
Wdhd1	T	C	14: 47,506,120 (GRCm39)	M265V	probably benign	Het
Wsb1	T	C	11: 79,137,103 (GRCm39)	D168G	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
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
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'- ATGAAACCTTGCTGCATCTGTG -3'
(R):5'- GGTGCTACTCCTACATAGATGCTG -3'

Sequencing Primer
(F):5'- AACCTTGCTGCATCTGTGAGGAG -3'
(R):5'- AACCTGTCCAGCTTAGAC -3'

Posted On

2020-09-02