Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Fbxl13'

369783

Institutional Source

Beutler Lab

Gene Symbol

Fbxl13

Ensembl Gene

ENSMUSG00000048520

Gene Name

F-box and leucine-rich repeat protein 13

Synonyms

4921539K22Rik

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21483847-21645634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21484003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 769 (Y769C)

Ref Sequence

ENSEMBL: ENSMUSP00000052716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051358] [ENSMUST00000056045]

AlphaFold

Q8CDU4

Predicted Effect

probably benign
Transcript: ENSMUST00000051358
AA Change: Y769C

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: Y769C

Domain	Start	End	E-Value	Type
low complexity region	160	173	N/A	INTRINSIC
FBOX	243	283	3.73e-4	SMART
LRR_CC	328	353	6.62e-6	SMART
LRR	354	378	3.67e2	SMART
LRR	379	404	2.75e-3	SMART
LRR	407	425	4.51e2	SMART
LRR	426	451	2.63e0	SMART
LRR	476	501	4.15e1	SMART
LRR	502	526	1.82e1	SMART
LRR	529	554	1.76e-1	SMART
LRR_CC	555	580	4.61e-5	SMART
LRR	604	629	8.81e-2	SMART
LRR	630	655	2.37e1	SMART
LRR	656	681	3.21e-4	SMART
LRR	682	707	6.57e-1	SMART
LRR	708	733	9.47e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056045

SMART Domains

Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146056

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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 FBXL13, 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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,615,243	I248S	possibly damaging	Het
8030462N17Rik	A	T	18: 77,653,299		probably null	Het
Abcc8	C	A	7: 46,104,707	A1562S	probably benign	Het
Adam30	C	A	3: 98,162,745	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,528,674	T2013A	probably damaging	Het
Als2cr12	G	A	1: 58,670,408	A196V	probably benign	Het
Baiap3	T	A	17: 25,247,295		probably benign	Het
Bicra	T	C	7: 15,988,906	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,982,364		probably benign	Het
C2cd3	C	A	7: 100,391,019	T265K	probably benign	Het
Cacna1s	T	A	1: 136,115,269	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991		probably null	Het
Cdcp2	A	G	4: 107,106,772	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,409,077	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,479,222	I39N	probably damaging	Het
Cep152	A	C	2: 125,563,754	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,245,108	I42T	probably damaging	Het
Cfap61	G	T	2: 146,143,100	V955L	probably damaging	Het
Cit	G	A	5: 115,908,691	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,810,852	M328V	probably benign	Het
Cntn4	A	T	6: 106,550,497	I447L	probably benign	Het
Csmd3	T	C	15: 47,857,934	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,372,985	K9E	probably damaging	Het
Dip2c	T	A	13: 9,575,150	M560K	probably benign	Het
Dsg1a	A	T	18: 20,333,722	T550S	probably benign	Het
Dtnb	A	G	12: 3,749,505	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,789,758		probably benign	Het
Efl1	T	A	7: 82,671,719	V120E	probably damaging	Het
Fcho2	T	C	13: 98,806,366	Y22C	probably damaging	Het
Gbp3	T	C	3: 142,567,574	V294A	probably damaging	Het
Gls	A	G	1: 52,199,945		probably benign	Het
Gm15130	A	T	2: 111,135,369		probably benign	Het
Gm6185	A	T	1: 161,213,158		noncoding transcript	Het
Gpr171	T	A	3: 59,098,096	H86L	probably damaging	Het
Gpr179	T	C	11: 97,339,248	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,283,820	V124E	probably damaging	Het
H2-M5	A	G	17: 36,989,417		probably benign	Het
Hist1h2bl	A	G	13: 21,715,965	M60T	probably benign	Het
Igf2r	A	T	17: 12,684,097	N2355K	probably damaging	Het
Il9r	A	C	11: 32,192,654	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,406,550	T313A	probably benign	Het
Kalrn	C	T	16: 34,514,019		probably benign	Het
Lama3	G	A	18: 12,477,604	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,670,375	C242*	probably null	Het
Lipe	A	G	7: 25,380,143	S1013P	probably damaging	Het
Lrrc25	C	T	8: 70,618,076	T169I	probably benign	Het
Lrrc39	T	C	3: 116,568,866		probably null	Het
Lrrd1	T	A	5: 3,851,126	L477*	probably null	Het
Lrriq4	A	G	3: 30,660,047	I515V	possibly damaging	Het
Magel2	A	G	7: 62,381,092	Y1248C	unknown	Het
Maml1	G	T	11: 50,258,335	N859K	possibly damaging	Het
Mdm1	A	T	10: 118,146,877	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,168,090	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,211,021	K38E	probably benign	Het
Mtmr4	T	C	11: 87,604,097	V405A	probably damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	A	13: 100,219,687	T1140M	probably benign	Het
Naip5	G	A	13: 100,219,681	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,456,624	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,548,301	I235V	probably benign	Het
Nyap2	T	A	1: 81,241,313	L318Q	probably damaging	Het
Nynrin	G	A	14: 55,872,001	V1522M	probably damaging	Het
Olfr1016	A	T	2: 85,800,047	N74K	probably benign	Het
Olfr1461	A	G	19: 13,165,124	I37V	probably benign	Het
Olfr659	C	T	7: 104,670,735	P11L	probably benign	Het
Olfr810	T	C	10: 129,791,439	D50G	probably damaging	Het
Olfr875	T	A	9: 37,773,430	M257K	possibly damaging	Het
Oog3	A	G	4: 144,159,161	L289P	probably damaging	Het
Pax6	T	C	2: 105,683,784		probably benign	Het
Pbrm1	G	A	14: 31,110,448	R1441K	probably benign	Het
Pcdha9	C	T	18: 36,999,458	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,487,397	S747P	probably benign	Het
Pcnx3	A	C	19: 5,687,995		probably null	Het
Pds5a	A	T	5: 65,651,289	V413E	probably damaging	Het
Phpt1	G	T	2: 25,574,320		probably benign	Het
Phykpl	A	G	11: 51,592,953	E220G	probably benign	Het
Pias2	T	C	18: 77,105,891		probably null	Het
Pkhd1	T	A	1: 20,199,415	I3302L	probably damaging	Het
Poli	A	G	18: 70,522,751	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,679,379	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,856,800	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,198,397	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,822,576	F59S	probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Setdb2	G	A	14: 59,413,646	T412I	probably benign	Het
Shank2	C	A	7: 144,052,306	N75K	probably damaging	Het
Shank3	T	A	15: 89,543,115	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,713,838	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,069,020	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231	T292A	probably benign	Het
Spag9	T	C	11: 94,048,599		probably benign	Het
Tas2r113	C	T	6: 132,893,782	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,138,741	S530G	probably benign	Het
Tenm2	A	G	11: 36,027,290	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,641,149	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,578,784	G147V	possibly damaging	Het
Trim38	A	T	13: 23,788,281	E195V	probably damaging	Het
Try5	T	C	6: 41,313,415	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462		probably benign	Het
Vmn2r105	T	C	17: 20,208,691	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,867,947	S494C	probably damaging	Het
Zeb2	A	G	2: 44,997,768	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,415,694	S1304G	probably benign	Het
Zfp287	G	T	11: 62,714,248	T611K	probably damaging	Het
Zfp534	G	A	4: 147,674,286	T642I	possibly damaging	Het

Other mutations in Fbxl13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Fbxl13	APN	5	21,490,414 (GRCm38)	missense	possibly damaging	0.81
IGL02178:Fbxl13	APN	5	21,620,720 (GRCm38)	missense	possibly damaging	0.56
IGL02271:Fbxl13	APN	5	21,490,456 (GRCm38)	missense	probably damaging	1.00
IGL02317:Fbxl13	APN	5	21,522,234 (GRCm38)	missense	probably benign	0.28
IGL02508:Fbxl13	APN	5	21,556,805 (GRCm38)	critical splice donor site	probably null
IGL02891:Fbxl13	APN	5	21,522,100 (GRCm38)	splice site	probably benign
IGL03387:Fbxl13	APN	5	21,523,798 (GRCm38)	critical splice donor site	probably null
Laurel	UTSW	5	21,582,053 (GRCm38)	nonsense	probably null
PIT4305001:Fbxl13	UTSW	5	21,522,148 (GRCm38)	missense	probably benign
R0040:Fbxl13	UTSW	5	21,486,373 (GRCm38)	missense	probably damaging	1.00
R0040:Fbxl13	UTSW	5	21,486,373 (GRCm38)	missense	probably damaging	1.00
R0278:Fbxl13	UTSW	5	21,523,910 (GRCm38)	missense	probably benign	0.03
R0597:Fbxl13	UTSW	5	21,614,714 (GRCm38)	missense	probably benign	0.09
R1110:Fbxl13	UTSW	5	21,484,036 (GRCm38)	missense	probably benign
R1172:Fbxl13	UTSW	5	21,620,604 (GRCm38)	splice site	probably benign
R1175:Fbxl13	UTSW	5	21,620,604 (GRCm38)	splice site	probably benign
R1464:Fbxl13	UTSW	5	21,483,991 (GRCm38)	missense	probably benign	0.21
R1464:Fbxl13	UTSW	5	21,483,991 (GRCm38)	missense	probably benign	0.21
R2174:Fbxl13	UTSW	5	21,582,048 (GRCm38)	missense	possibly damaging	0.74
R2426:Fbxl13	UTSW	5	21,522,137 (GRCm38)	missense	probably damaging	1.00
R4171:Fbxl13	UTSW	5	21,543,788 (GRCm38)	missense	probably benign	0.02
R4413:Fbxl13	UTSW	5	21,582,053 (GRCm38)	nonsense	probably null
R4655:Fbxl13	UTSW	5	21,582,039 (GRCm38)	missense	probably damaging	1.00
R5544:Fbxl13	UTSW	5	21,524,491 (GRCm38)	missense	probably damaging	0.96
R5979:Fbxl13	UTSW	5	21,582,091 (GRCm38)	missense	probably damaging	1.00
R6176:Fbxl13	UTSW	5	21,500,500 (GRCm38)	missense	possibly damaging	0.83
R6211:Fbxl13	UTSW	5	21,484,021 (GRCm38)	missense	possibly damaging	0.57
R6252:Fbxl13	UTSW	5	21,621,501 (GRCm38)	missense	possibly damaging	0.96
R6336:Fbxl13	UTSW	5	21,523,547 (GRCm38)	critical splice donor site	probably null
R6455:Fbxl13	UTSW	5	21,556,814 (GRCm38)	missense	probably benign	0.02
R6522:Fbxl13	UTSW	5	21,561,556 (GRCm38)	splice site	probably null
R6827:Fbxl13	UTSW	5	21,522,178 (GRCm38)	missense	probably damaging	0.97
R6961:Fbxl13	UTSW	5	21,543,742 (GRCm38)	missense	probably damaging	1.00
R6998:Fbxl13	UTSW	5	21,620,613 (GRCm38)	missense	probably null	0.03
R6998:Fbxl13	UTSW	5	21,543,689 (GRCm38)	missense	probably damaging	1.00
R7152:Fbxl13	UTSW	5	21,582,067 (GRCm38)	missense	possibly damaging	0.95
R7196:Fbxl13	UTSW	5	21,486,303 (GRCm38)	missense	probably damaging	0.97
R7418:Fbxl13	UTSW	5	21,581,983 (GRCm38)	missense	probably benign	0.00
R7490:Fbxl13	UTSW	5	21,523,060 (GRCm38)	nonsense	probably null
R7649:Fbxl13	UTSW	5	21,614,666 (GRCm38)	missense	probably benign	0.13
R7816:Fbxl13	UTSW	5	21,543,787 (GRCm38)	missense	probably benign	0.11
R7954:Fbxl13	UTSW	5	21,543,769 (GRCm38)	missense	probably benign	0.19
R8036:Fbxl13	UTSW	5	21,523,568 (GRCm38)	missense	probably damaging	1.00
R8098:Fbxl13	UTSW	5	21,620,718 (GRCm38)	missense	probably benign	0.00
R8406:Fbxl13	UTSW	5	21,523,654 (GRCm38)	missense	probably damaging	1.00
R8912:Fbxl13	UTSW	5	21,522,186 (GRCm38)	missense	probably damaging	0.96
R9102:Fbxl13	UTSW	5	21,632,803 (GRCm38)	missense	probably benign	0.00
R9378:Fbxl13	UTSW	5	21,585,203 (GRCm38)	missense	probably damaging	0.98
R9473:Fbxl13	UTSW	5	21,585,245 (GRCm38)	missense	possibly damaging	0.67
R9553:Fbxl13	UTSW	5	21,523,153 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGATAAGGTTACCTTTGCAGTC -3'
(R):5'- TGTAGAAATCACTTTCGCATCTCAC -3'

Sequencing Primer
(F):5'- CATTTGCAAATGAAATAAAAAGGGC -3'
(R):5'- CGCATCTCACTAATGTTAAGCACTG -3'

Posted On

2016-02-04