Mutagenetix > Incidental Mutation

Incidental Mutation 'R7196:Fbxl13'

559915

Institutional Source

Beutler Lab

Gene Symbol

Fbxl13

Ensembl Gene

ENSMUSG00000048520

Gene Name

F-box and leucine-rich repeat protein 13

Synonyms

4921539K22Rik

MMRRC Submission

045275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21688845-21850632 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21691301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 694 (I694N)

Ref Sequence

ENSEMBL: ENSMUSP00000052716 (fasta)

Gene Model

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

AlphaFold

Q8CDU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000051358
AA Change: I694N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: I694N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (94/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
4921504E06Rik	A	C	2: 19,498,806 (GRCm39)	S396A	probably benign	Het
Actr6	C	A	10: 89,550,784 (GRCm39)	V337F	possibly damaging	Het
Agtpbp1	T	C	13: 59,680,994 (GRCm39)	T73A	possibly damaging	Het
AI182371	A	T	2: 34,976,441 (GRCm39)		probably null	Het
Apob	A	G	12: 8,033,893 (GRCm39)	E202G	possibly damaging	Het
Asb4	A	T	6: 5,423,356 (GRCm39)	M168L	probably benign	Het
AU018091	T	C	7: 3,213,788 (GRCm39)	Y152C	probably damaging	Het
Casp3	G	A	8: 47,088,498 (GRCm39)	G132R	possibly damaging	Het
Cbfa2t3	C	A	8: 123,365,729 (GRCm39)	A229S	probably benign	Het
Cdh23	A	T	10: 60,143,759 (GRCm39)	Y2949N	probably damaging	Het
Ceacam3	T	C	7: 16,888,881 (GRCm39)	Y217H		Het
Cldn5	A	T	16: 18,595,630 (GRCm39)		probably benign	Het
Cltc	T	C	11: 86,597,657 (GRCm39)	D1093G	probably damaging	Het
Cnn3	G	A	3: 121,248,437 (GRCm39)		probably null	Het
Col4a2	A	G	8: 11,448,693 (GRCm39)	Y71C	probably damaging	Het
Csf1	T	C	3: 107,661,214 (GRCm39)	D77G	possibly damaging	Het
Cyp2j7	T	A	4: 96,103,651 (GRCm39)	T295S	probably benign	Het
Dnah7a	A	T	1: 53,724,000 (GRCm39)	M133K	probably benign	Het
Dock5	G	A	14: 67,993,919 (GRCm39)	P1852L	probably damaging	Het
Dpysl3	T	A	18: 43,462,910 (GRCm39)	D489V	probably damaging	Het
Dsg4	T	C	18: 20,599,537 (GRCm39)	Y718H	probably damaging	Het
Dync2h1	G	A	9: 7,147,715 (GRCm39)	Q972*	probably null	Het
Epn1	G	A	7: 5,096,380 (GRCm39)	D225N	possibly damaging	Het
Esp4	A	G	17: 40,913,256 (GRCm39)	E41G	probably benign	Het
Fam171a2	T	C	11: 102,329,172 (GRCm39)	D529G	probably benign	Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Galnt3	A	G	2: 65,921,268 (GRCm39)	Y533H	probably damaging	Het
Gja5	C	A	3: 96,958,422 (GRCm39)	R160S	probably damaging	Het
Gm12353	A	T	4: 19,608,938 (GRCm39)	D7V	unknown	Het
Gm17669	T	C	18: 67,695,572 (GRCm39)	F39S	probably damaging	Het
Gm7145	T	A	1: 117,913,791 (GRCm39)	N224K	possibly damaging	Het
Gpd1	G	T	15: 99,619,936 (GRCm39)	G245C	probably benign	Het
Gpr4	G	A	7: 18,957,089 (GRCm39)	G337D	probably benign	Het
Hgd	G	A	16: 37,409,078 (GRCm39)	C14Y	probably benign	Het
Ibtk	A	T	9: 85,625,709 (GRCm39)	S14T	probably damaging	Het
Ifi205	G	T	1: 173,854,109 (GRCm39)	N181K	probably damaging	Het
Inppl1	G	A	7: 101,477,993 (GRCm39)	A673V	probably benign	Het
Itgb3	C	A	11: 104,524,438 (GRCm39)	Y191*	probably null	Het
Jrkl	G	T	9: 13,244,162 (GRCm39)	P500T	probably benign	Het
Kcnq1	G	A	7: 142,912,478 (GRCm39)	V515I	possibly damaging	Het
Kifc3	A	G	8: 95,833,239 (GRCm39)	V453A	probably benign	Het
Krt10	C	T	11: 99,278,371 (GRCm39)	E263K	probably damaging	Het
Lingo1	A	T	9: 56,527,903 (GRCm39)	F235I	probably damaging	Het
Lmo7	T	A	14: 102,133,936 (GRCm39)	D660E	possibly damaging	Het
Magi3	A	C	3: 103,956,484 (GRCm39)	C661W	probably benign	Het
Mmp1a	C	T	9: 7,476,018 (GRCm39)	Q428*	probably null	Het
Msrb1	A	T	17: 24,958,556 (GRCm39)	T47S	probably benign	Het
Naip6	A	T	13: 100,436,666 (GRCm39)	I619K	probably benign	Het
Ndfip2	T	C	14: 105,535,472 (GRCm39)	S253P	probably damaging	Het
Nebl	A	T	2: 17,457,329 (GRCm39)	V77E	probably damaging	Het
Nit1	T	C	1: 171,172,003 (GRCm39)	E65G	probably benign	Het
Ntn4	C	T	10: 93,569,576 (GRCm39)	H430Y	probably benign	Het
Nxpe5	A	T	5: 138,237,586 (GRCm39)	I49F	probably benign	Het
Or10a2	A	G	7: 106,673,935 (GRCm39)	N300S	probably benign	Het
Or10c1	A	G	17: 37,522,084 (GRCm39)	I220T	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Or1e23	A	G	11: 73,407,957 (GRCm39)	Y23H	probably benign	Het
Or1m1	A	T	9: 18,666,886 (GRCm39)	L15*	probably null	Het
Or4k49	T	G	2: 111,495,042 (GRCm39)	L157W	probably damaging	Het
Or52s6	A	T	7: 103,092,204 (GRCm39)	M42K	probably benign	Het
Or7e178	A	G	9: 20,225,494 (GRCm39)	Y241H	probably benign	Het
Oxct2a	T	A	4: 123,217,165 (GRCm39)	N72I	probably damaging	Het
Pappa	G	A	4: 65,242,128 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 82,042,312 (GRCm39)	R34H	possibly damaging	Het
Plekha5	G	T	6: 140,489,648 (GRCm39)	V236L	possibly damaging	Het
Prdm1	A	G	10: 44,332,988 (GRCm39)	S44P	probably benign	Het
Prss46	T	A	9: 110,680,533 (GRCm39)	L226Q	probably benign	Het
Prss47	C	A	13: 65,192,640 (GRCm39)	W380C	probably benign	Het
Ptch2	T	G	4: 116,971,946 (GRCm39)	V1156G	probably benign	Het
Rab3gap2	T	C	1: 185,013,864 (GRCm39)	F1190S	probably damaging	Het
Raver2	T	G	4: 100,960,056 (GRCm39)	Y179D	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Ripor2	T	G	13: 24,888,808 (GRCm39)	I629S	possibly damaging	Het
Robo4	T	A	9: 37,314,001 (GRCm39)	M84K	possibly damaging	Het
Rps6ka5	A	T	12: 100,562,123 (GRCm39)	S252T	possibly damaging	Het
Rtl1	C	T	12: 109,559,221 (GRCm39)	V873M	possibly damaging	Het
Sla	T	A	15: 66,703,420 (GRCm39)	R4W	probably benign	Het
Smco1	A	G	16: 32,092,620 (GRCm39)	D97G	probably damaging	Het
Srgap1	T	C	10: 121,676,753 (GRCm39)	T414A	probably benign	Het
Syt14	A	G	1: 192,717,936 (GRCm39)	I3T	probably benign	Het
Tnpo2	G	A	8: 85,773,766 (GRCm39)	V303M	possibly damaging	Het
Tstd2	A	C	4: 46,119,955 (GRCm39)	S332R	probably damaging	Het
Ttn	C	A	2: 76,582,386 (GRCm39)	A22836S	possibly damaging	Het
Ufl1	A	G	4: 25,250,669 (GRCm39)	V728A	probably benign	Het
Usp33	A	T	3: 152,089,828 (GRCm39)	K789N	possibly damaging	Het
Usp54	T	A	14: 20,638,438 (GRCm39)	Q214L	probably damaging	Het
Vmn2r7	T	G	3: 64,623,198 (GRCm39)	N374T	probably benign	Het
Zbtb7a	T	A	10: 80,980,434 (GRCm39)	N209K	probably damaging	Het
Zc3hav1	A	G	6: 38,306,207 (GRCm39)	V615A	probably benign	Het
Zdhhc20	A	G	14: 58,111,348 (GRCm39)		probably null	Het
Zfp90	G	T	8: 107,151,780 (GRCm39)	V498L	probably damaging	Het

Other mutations in Fbxl13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Fbxl13	APN	5	21,695,412 (GRCm39)	missense	possibly damaging	0.81
IGL02178:Fbxl13	APN	5	21,825,718 (GRCm39)	missense	possibly damaging	0.56
IGL02271:Fbxl13	APN	5	21,695,454 (GRCm39)	missense	probably damaging	1.00
IGL02317:Fbxl13	APN	5	21,727,232 (GRCm39)	missense	probably benign	0.28
IGL02508:Fbxl13	APN	5	21,761,803 (GRCm39)	critical splice donor site	probably null
IGL02891:Fbxl13	APN	5	21,727,098 (GRCm39)	splice site	probably benign
IGL03387:Fbxl13	APN	5	21,728,796 (GRCm39)	critical splice donor site	probably null
Laurel	UTSW	5	21,787,051 (GRCm39)	nonsense	probably null
PIT4305001:Fbxl13	UTSW	5	21,727,146 (GRCm39)	missense	probably benign
R0040:Fbxl13	UTSW	5	21,691,371 (GRCm39)	missense	probably damaging	1.00
R0040:Fbxl13	UTSW	5	21,691,371 (GRCm39)	missense	probably damaging	1.00
R0278:Fbxl13	UTSW	5	21,728,908 (GRCm39)	missense	probably benign	0.03
R0597:Fbxl13	UTSW	5	21,819,712 (GRCm39)	missense	probably benign	0.09
R1110:Fbxl13	UTSW	5	21,689,034 (GRCm39)	missense	probably benign
R1172:Fbxl13	UTSW	5	21,825,602 (GRCm39)	splice site	probably benign
R1175:Fbxl13	UTSW	5	21,825,602 (GRCm39)	splice site	probably benign
R1464:Fbxl13	UTSW	5	21,688,989 (GRCm39)	missense	probably benign	0.21
R1464:Fbxl13	UTSW	5	21,688,989 (GRCm39)	missense	probably benign	0.21
R2174:Fbxl13	UTSW	5	21,787,046 (GRCm39)	missense	possibly damaging	0.74
R2426:Fbxl13	UTSW	5	21,727,135 (GRCm39)	missense	probably damaging	1.00
R4171:Fbxl13	UTSW	5	21,748,786 (GRCm39)	missense	probably benign	0.02
R4413:Fbxl13	UTSW	5	21,787,051 (GRCm39)	nonsense	probably null
R4655:Fbxl13	UTSW	5	21,787,037 (GRCm39)	missense	probably damaging	1.00
R4816:Fbxl13	UTSW	5	21,689,001 (GRCm39)	missense	probably benign	0.25
R5544:Fbxl13	UTSW	5	21,729,489 (GRCm39)	missense	probably damaging	0.96
R5979:Fbxl13	UTSW	5	21,787,089 (GRCm39)	missense	probably damaging	1.00
R6176:Fbxl13	UTSW	5	21,705,498 (GRCm39)	missense	possibly damaging	0.83
R6211:Fbxl13	UTSW	5	21,689,019 (GRCm39)	missense	possibly damaging	0.57
R6252:Fbxl13	UTSW	5	21,826,499 (GRCm39)	missense	possibly damaging	0.96
R6336:Fbxl13	UTSW	5	21,728,545 (GRCm39)	critical splice donor site	probably null
R6455:Fbxl13	UTSW	5	21,761,812 (GRCm39)	missense	probably benign	0.02
R6522:Fbxl13	UTSW	5	21,766,554 (GRCm39)	splice site	probably null
R6827:Fbxl13	UTSW	5	21,727,176 (GRCm39)	missense	probably damaging	0.97
R6961:Fbxl13	UTSW	5	21,748,740 (GRCm39)	missense	probably damaging	1.00
R6998:Fbxl13	UTSW	5	21,825,611 (GRCm39)	missense	probably null	0.03
R6998:Fbxl13	UTSW	5	21,748,687 (GRCm39)	missense	probably damaging	1.00
R7152:Fbxl13	UTSW	5	21,787,065 (GRCm39)	missense	possibly damaging	0.95
R7418:Fbxl13	UTSW	5	21,786,981 (GRCm39)	missense	probably benign	0.00
R7490:Fbxl13	UTSW	5	21,728,058 (GRCm39)	nonsense	probably null
R7649:Fbxl13	UTSW	5	21,819,664 (GRCm39)	missense	probably benign	0.13
R7816:Fbxl13	UTSW	5	21,748,785 (GRCm39)	missense	probably benign	0.11
R7954:Fbxl13	UTSW	5	21,748,767 (GRCm39)	missense	probably benign	0.19
R8036:Fbxl13	UTSW	5	21,728,566 (GRCm39)	missense	probably damaging	1.00
R8098:Fbxl13	UTSW	5	21,825,716 (GRCm39)	missense	probably benign	0.00
R8406:Fbxl13	UTSW	5	21,728,652 (GRCm39)	missense	probably damaging	1.00
R8912:Fbxl13	UTSW	5	21,727,184 (GRCm39)	missense	probably damaging	0.96
R9102:Fbxl13	UTSW	5	21,837,801 (GRCm39)	missense	probably benign	0.00
R9378:Fbxl13	UTSW	5	21,790,201 (GRCm39)	missense	probably damaging	0.98
R9473:Fbxl13	UTSW	5	21,790,243 (GRCm39)	missense	possibly damaging	0.67
R9553:Fbxl13	UTSW	5	21,728,151 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGTTCAACTCAGAATGTTGG -3'
(R):5'- AGGCAGGTATTTCACTCTTGC -3'

Sequencing Primer
(F):5'- ACTCAGAATGTTGGTTTCAATTAGTC -3'
(R):5'- GCAGGTATTTCACTCTTGCCATGC -3'

Posted On

2019-06-26