Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Fbxl13'

99918

Institutional Source

Beutler Lab

Gene Symbol

Fbxl13

Ensembl Gene

ENSMUSG00000048520

Gene Name

F-box and leucine-rich repeat protein 13

Synonyms

4921539K22Rik

MMRRC Submission

039248-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21688845-21850632 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 21825602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051358] [ENSMUST00000115234]

AlphaFold

Q8CDU4

Predicted Effect

probably benign
Transcript: ENSMUST00000051358

SMART Domains

Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520

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: ENSMUST00000115234

SMART Domains

Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520

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	432	6.88e-4	SMART
Blast:LRR	433	458	7e-8	BLAST
LRR	459	484	2.63e0	SMART
LRR	509	534	4.15e1	SMART
LRR	535	559	1.82e1	SMART
LRR	562	587	1.76e-1	SMART
LRR_CC	588	613	4.61e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137788

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 16,935,446 (GRCm39)	H214L	probably benign	Het
Abca17	T	C	17: 24,508,325 (GRCm39)	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anapc1	C	A	2: 128,522,108 (GRCm39)	C150F	probably damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Arhgef18	T	A	8: 3,439,023 (GRCm39)		probably benign	Het
Borcs5	T	A	6: 134,687,096 (GRCm39)	N150K	probably damaging	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,671,241 (GRCm39)	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,784,402 (GRCm39)	T137P	unknown	Het
Defb8	C	T	8: 19,495,910 (GRCm39)	G50E	probably damaging	Het
Dimt1	T	A	13: 107,086,193 (GRCm39)		probably benign	Het
Dnajb11	T	A	16: 22,689,423 (GRCm39)	D281E	probably damaging	Het
Eci2	G	T	13: 35,177,087 (GRCm39)	N24K	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxw11	T	C	11: 32,661,922 (GRCm39)	C121R	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gab1	C	A	8: 81,511,471 (GRCm39)	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,602,982 (GRCm39)		noncoding transcript	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Itpkc	T	C	7: 26,927,195 (GRCm39)	I240V	probably benign	Het
Jakmip3	A	G	7: 138,629,515 (GRCm39)	D552G	probably damaging	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,577,011 (GRCm39)	E768G	possibly damaging	Het
Klf6	A	G	13: 5,911,711 (GRCm39)	D25G	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Mast1	T	C	8: 85,651,956 (GRCm39)	E342G	probably benign	Het
Mgat5b	T	C	11: 116,868,622 (GRCm39)	L515P	probably damaging	Het
Mink1	A	G	11: 70,502,166 (GRCm39)	D985G	probably benign	Het
Mphosph9	A	G	5: 124,453,739 (GRCm39)	V191A	possibly damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,875,598 (GRCm39)	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,918,292 (GRCm39)	R270S	possibly damaging	Het
Rasal2	A	G	1: 156,975,218 (GRCm39)	M1172T	probably damaging	Het
Rif1	A	G	2: 51,997,640 (GRCm39)		probably benign	Het
Rnf123	C	T	9: 107,954,572 (GRCm39)	R48H	probably benign	Het
Rsrc1	T	C	3: 67,263,551 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,384,608 (GRCm39)	P195L	probably benign	Het
Sis	A	G	3: 72,865,437 (GRCm39)		probably benign	Het
Skint4	T	C	4: 111,981,793 (GRCm39)	M246T	probably benign	Het
Snrnp200	C	A	2: 127,070,997 (GRCm39)	R1093S	probably damaging	Het
Sp100	A	G	1: 85,629,141 (GRCm39)	N471D	possibly damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Ssxb8	T	G	X: 8,556,062 (GRCm39)	H88P	probably damaging	Het
Sufu	T	C	19: 46,389,703 (GRCm39)		probably null	Het
Synpo2l	G	A	14: 20,718,235 (GRCm39)	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,881,683 (GRCm39)	S40R	probably damaging	Het
Tent4b	T	A	8: 88,978,635 (GRCm39)	F445L	probably damaging	Het
Terb1	G	A	8: 105,210,938 (GRCm39)	T363I	probably benign	Het
Timd4	C	T	11: 46,708,498 (GRCm39)	P175S	probably damaging	Het
Tlr3	C	A	8: 45,850,171 (GRCm39)	V833L	probably damaging	Het
Tpst2	T	A	5: 112,455,911 (GRCm39)	M150K	probably damaging	Het
Trim67	T	A	8: 125,543,774 (GRCm39)	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Uimc1	G	A	13: 55,176,415 (GRCm39)	T701I	possibly damaging	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,547,621 (GRCm39)	S160P	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Zfp457	G	A	13: 67,441,748 (GRCm39)	P180S	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
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
R7196:Fbxl13	UTSW	5	21,691,301 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2014-01-15