Mutagenetix > Incidental Mutation

Incidental Mutation 'R6018:Fbxl16'

478749

Institutional Source

Beutler Lab

Gene Symbol

Fbxl16

Ensembl Gene

ENSMUSG00000025738

Gene Name

F-box and leucine-rich repeat protein 16

Synonyms

MMRRC Submission

044192-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R6018 (G1)

Quality Score

165.009

Status

Not validated

Chromosome

Chromosomal Location

26028059-26040229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26036709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 230 (D230V)

Ref Sequence

ENSEMBL: ENSMUSP00000048562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045692]

AlphaFold

A2RT62

Predicted Effect

probably damaging
Transcript: ENSMUST00000045692
AA Change: D230V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048562
Gene: ENSMUSG00000025738
AA Change: D230V

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
low complexity region	70	89	N/A	INTRINSIC
Blast:FBOX	98	137	2e-14	BLAST
LRR	241	266	1.32e1	SMART
LRR	267	291	1.61e2	SMART
LRR	293	318	1.76e2	SMART
LRR	319	344	3.21e-4	SMART
LRR	345	370	7.67e-2	SMART
LRR	371	396	6.13e-1	SMART
LRR	421	446	3.52e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

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 FBXL16, 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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,448 (GRCm39)	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,202,405 (GRCm39)		probably null	Het
2310022B05Rik	A	G	8: 125,365,853 (GRCm39)	F297L	probably benign	Het
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Agbl3	A	G	6: 34,776,190 (GRCm39)	N227S	probably damaging	Het
Ak6	C	T	13: 100,802,459 (GRCm39)	Q151*	probably null	Het
Ano4	A	G	10: 88,865,128 (GRCm39)	L297P	probably benign	Het
Anxa5	T	C	3: 36,504,807 (GRCm39)	T252A	probably benign	Het
Ap5s1	G	A	2: 131,054,915 (GRCm39)	W212*	probably null	Het
Arl9	A	G	5: 77,155,253 (GRCm39)	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,627,430 (GRCm39)	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,125,579 (GRCm39)		probably benign	Het
Atp2b1	G	A	10: 98,846,622 (GRCm39)	A808T	probably damaging	Het
Bckdhb	C	A	9: 83,951,237 (GRCm39)	T342K	probably benign	Het
Bdp1	T	C	13: 100,174,732 (GRCm39)	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235 (GRCm39)	I1148M	probably damaging	Het
Csf3r	T	A	4: 125,937,414 (GRCm39)	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,480,812 (GRCm39)		probably benign	Het
Cyp2c39	A	T	19: 39,499,436 (GRCm39)	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,754,182 (GRCm39)	V52L	probably benign	Het
Dppa4	T	A	16: 48,109,490 (GRCm39)	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,192,481 (GRCm39)	S770P	probably damaging	Het
Gm4847	G	A	1: 166,471,017 (GRCm39)	A11V	probably damaging	Het
Gm9978	C	T	10: 78,322,915 (GRCm39)		noncoding transcript	Het
Gpatch8	A	G	11: 102,371,741 (GRCm39)	L599P	unknown	Het
Hdac4	A	G	1: 91,886,120 (GRCm39)	L254P	probably damaging	Het
Heatr1	A	G	13: 12,419,828 (GRCm39)	I384V	probably benign	Het
Heatr1	A	T	13: 12,420,939 (GRCm39)	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,260,804 (GRCm39)	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,412,024 (GRCm39)	S87P	probably damaging	Het
Il2rb	G	T	15: 78,366,266 (GRCm39)	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,863,609 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,274 (GRCm39)		probably null	Het
Khdrbs1	T	C	4: 129,613,887 (GRCm39)	T374A	probably benign	Het
Lamc3	G	T	2: 31,795,724 (GRCm39)	G370W	probably damaging	Het
Lipn	T	A	19: 34,054,335 (GRCm39)	L191Q	probably damaging	Het
Lpl	T	C	8: 69,353,940 (GRCm39)	V427A	probably benign	Het
Magi3	T	C	3: 104,013,128 (GRCm39)	S120G	probably damaging	Het
Mgl2	T	C	11: 70,027,937 (GRCm39)	*382Q	probably null	Het
Nab2	G	A	10: 127,500,793 (GRCm39)	Q100*	probably null	Het
Nfat5	T	A	8: 108,082,283 (GRCm39)		probably null	Het
Nqo1	T	C	8: 108,115,500 (GRCm39)	H259R	probably damaging	Het
Nrdc	T	A	4: 108,870,944 (GRCm39)	D190E	probably benign	Het
Or5m5	T	A	2: 85,815,148 (GRCm39)		probably benign	Het
Osmr	G	A	15: 6,845,276 (GRCm39)	P830L	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pde11a	T	A	2: 75,848,194 (GRCm39)	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,373,455 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,441,916 (GRCm39)	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,779,710 (GRCm39)	V244A	probably benign	Het
Pramel16	C	T	4: 143,677,469 (GRCm39)	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,345,422 (GRCm39)	V8A	probably benign	Het
Rbbp5	T	C	1: 132,422,078 (GRCm39)	V199A	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rp1	A	G	1: 4,423,059 (GRCm39)	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,720,889 (GRCm39)	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,056,118 (GRCm39)	H767Q	probably benign	Het
Sis	G	A	3: 72,820,525 (GRCm39)	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,766,846 (GRCm39)	A214E	probably damaging	Het
Snx13	G	T	12: 35,097,318 (GRCm39)		probably benign	Het
Sun5	T	A	2: 153,700,363 (GRCm39)	I295F	probably damaging	Het
Themis3	C	T	17: 66,900,204 (GRCm39)	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,505,138 (GRCm39)	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,548,639 (GRCm39)	E122G	probably damaging	Het
Top3b	T	C	16: 16,710,756 (GRCm39)	V862A	probably damaging	Het
Trim35	A	T	14: 66,546,199 (GRCm39)	D322V	probably damaging	Het
Trpm2	A	G	10: 77,753,547 (GRCm39)	F1319S	probably benign	Het
Ttn	T	A	2: 76,785,020 (GRCm39)	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,683,268 (GRCm39)	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,521,875 (GRCm39)	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,585,627 (GRCm39)	A65T	probably benign	Het

Other mutations in Fbxl16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Fbxl16	APN	17	26,038,338 (GRCm39)	splice site	probably benign
BB002:Fbxl16	UTSW	17	26,035,880 (GRCm39)	missense	probably benign	0.00
BB012:Fbxl16	UTSW	17	26,035,880 (GRCm39)	missense	probably benign	0.00
R1848:Fbxl16	UTSW	17	26,035,420 (GRCm39)	missense	probably benign
R5413:Fbxl16	UTSW	17	26,035,817 (GRCm39)	missense	possibly damaging	0.92
R6048:Fbxl16	UTSW	17	26,035,967 (GRCm39)	missense	probably benign	0.44
R6352:Fbxl16	UTSW	17	26,037,919 (GRCm39)	missense	probably damaging	0.99
R7068:Fbxl16	UTSW	17	26,038,485 (GRCm39)	missense	possibly damaging	0.86
R7089:Fbxl16	UTSW	17	26,035,703 (GRCm39)	missense	probably benign	0.00
R7925:Fbxl16	UTSW	17	26,035,880 (GRCm39)	missense	probably benign	0.00
R8065:Fbxl16	UTSW	17	26,036,957 (GRCm39)	missense	probably damaging	0.99
R8067:Fbxl16	UTSW	17	26,036,957 (GRCm39)	missense	probably damaging	0.99
R9694:Fbxl16	UTSW	17	26,036,813 (GRCm39)	nonsense	probably null
X0025:Fbxl16	UTSW	17	26,037,489 (GRCm39)	missense	probably damaging	1.00
Z1176:Fbxl16	UTSW	17	26,035,985 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GTTCAGCCTGATGCATGCTTG -3'
(R):5'- TTATCTCCCAGCAGGAAAGC -3'

Sequencing Primer
(F):5'- CTTGCACAAGCCCACGC -3'
(R):5'- CGTGCTGTGAAGTAGGCCAG -3'

Posted On

2017-06-26