Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Fbxl13'

250205

Institutional Source

Beutler Lab

Gene Symbol

Fbxl13

Ensembl Gene

ENSMUSG00000048520

Gene Name

F-box and leucine-rich repeat protein 13

Synonyms

4921539K22Rik

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21483847-21645634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21522137 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 620 (D620E)

Ref Sequence

ENSEMBL: ENSMUSP00000110889 (fasta)

Gene Model

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

AlphaFold

Q8CDU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000051358
AA Change: D587E

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

SMART Domains

Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520
AA Change: D587E

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 damaging
Transcript: ENSMUST00000115234
AA Change: D620E

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

SMART Domains

Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520
AA Change: D620E

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: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Ptpn9	A	T	9: 57,027,428	N159Y	possibly damaging	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	probably benign	Het

Other mutations in Fbxl13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Fbxl13	APN	5	21490414	missense	possibly damaging	0.81
IGL02178:Fbxl13	APN	5	21620720	missense	possibly damaging	0.56
IGL02271:Fbxl13	APN	5	21490456	missense	probably damaging	1.00
IGL02317:Fbxl13	APN	5	21522234	missense	probably benign	0.28
IGL02508:Fbxl13	APN	5	21556805	critical splice donor site	probably null
IGL02891:Fbxl13	APN	5	21522100	splice site	probably benign
IGL03387:Fbxl13	APN	5	21523798	critical splice donor site	probably null
Laurel	UTSW	5	21582053	nonsense	probably null
PIT4305001:Fbxl13	UTSW	5	21522148	missense	probably benign
R0040:Fbxl13	UTSW	5	21486373	missense	probably damaging	1.00
R0040:Fbxl13	UTSW	5	21486373	missense	probably damaging	1.00
R0278:Fbxl13	UTSW	5	21523910	missense	probably benign	0.03
R0597:Fbxl13	UTSW	5	21614714	missense	probably benign	0.09
R1110:Fbxl13	UTSW	5	21484036	missense	probably benign
R1172:Fbxl13	UTSW	5	21620604	splice site	probably benign
R1175:Fbxl13	UTSW	5	21620604	splice site	probably benign
R1464:Fbxl13	UTSW	5	21483991	missense	probably benign	0.21
R1464:Fbxl13	UTSW	5	21483991	missense	probably benign	0.21
R2174:Fbxl13	UTSW	5	21582048	missense	possibly damaging	0.74
R4171:Fbxl13	UTSW	5	21543788	missense	probably benign	0.02
R4413:Fbxl13	UTSW	5	21582053	nonsense	probably null
R4655:Fbxl13	UTSW	5	21582039	missense	probably damaging	1.00
R4816:Fbxl13	UTSW	5	21484003	missense	probably benign	0.25
R5544:Fbxl13	UTSW	5	21524491	missense	probably damaging	0.96
R5979:Fbxl13	UTSW	5	21582091	missense	probably damaging	1.00
R6176:Fbxl13	UTSW	5	21500500	missense	possibly damaging	0.83
R6211:Fbxl13	UTSW	5	21484021	missense	possibly damaging	0.57
R6252:Fbxl13	UTSW	5	21621501	missense	possibly damaging	0.96
R6336:Fbxl13	UTSW	5	21523547	critical splice donor site	probably null
R6455:Fbxl13	UTSW	5	21556814	missense	probably benign	0.02
R6522:Fbxl13	UTSW	5	21561556	splice site	probably null
R6827:Fbxl13	UTSW	5	21522178	missense	probably damaging	0.97
R6961:Fbxl13	UTSW	5	21543742	missense	probably damaging	1.00
R6998:Fbxl13	UTSW	5	21543689	missense	probably damaging	1.00
R6998:Fbxl13	UTSW	5	21620613	missense	probably null	0.03
R7152:Fbxl13	UTSW	5	21582067	missense	possibly damaging	0.95
R7196:Fbxl13	UTSW	5	21486303	missense	probably damaging	0.97
R7418:Fbxl13	UTSW	5	21581983	missense	probably benign	0.00
R7490:Fbxl13	UTSW	5	21523060	nonsense	probably null
R7649:Fbxl13	UTSW	5	21614666	missense	probably benign	0.13
R7816:Fbxl13	UTSW	5	21543787	missense	probably benign	0.11
R7954:Fbxl13	UTSW	5	21543769	missense	probably benign	0.19
R8036:Fbxl13	UTSW	5	21523568	missense	probably damaging	1.00
R8098:Fbxl13	UTSW	5	21620718	missense	probably benign	0.00
R8406:Fbxl13	UTSW	5	21523654	missense	probably damaging	1.00
R8912:Fbxl13	UTSW	5	21522186	missense	probably damaging	0.96
R9102:Fbxl13	UTSW	5	21632803	missense	probably benign	0.00
R9378:Fbxl13	UTSW	5	21585203	missense	probably damaging	0.98
R9473:Fbxl13	UTSW	5	21585245	missense	possibly damaging	0.67
R9553:Fbxl13	UTSW	5	21523153	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAAGTACTGGAGCGTG -3'
(R):5'- GCTTTTCATGAAGTCGTCAGTG -3'

Sequencing Primer
(F):5'- ACAGCGTTTATCACTATTCTGGGGAC -3'
(R):5'- CATGAAGTCGTCAGTGGTGTCATC -3'

Posted On

2014-11-12