Mutagenetix > Incidental Mutation

Incidental Mutation 'R6029:Fbxl5'

480248

Institutional Source

Beutler Lab

Gene Symbol

Fbxl5

Ensembl Gene

ENSMUSG00000039753

Gene Name

F-box and leucine-rich repeat protein 5

Synonyms

Fbl4, Fir4

MMRRC Submission

044201-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43901958-43939529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43922746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 218 (E218G)

Ref Sequence

ENSEMBL: ENSMUSP00000109681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047857] [ENSMUST00000087465] [ENSMUST00000114047] [ENSMUST00000119523] [ENSMUST00000121736] [ENSMUST00000124610] [ENSMUST00000196483] [ENSMUST00000199055]

AlphaFold

Q8C2S5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047857
AA Change: E224G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: E224G

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	6	138	1.3e-10	PFAM
FBOX	208	248	2.31e-9	SMART
low complexity region	289	310	N/A	INTRINSIC
LRR	355	379	2.43e2	SMART
LRR	382	407	4.87e-4	SMART
low complexity region	481	492	N/A	INTRINSIC
LRR	596	621	2.45e0	SMART
LRR	624	649	4.65e-1	SMART
Blast:LRR	650	681	2e-13	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087465
AA Change: E224G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: E224G

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	6	138	4.3e-15	PFAM
FBOX	208	248	2.31e-9	SMART
low complexity region	289	310	N/A	INTRINSIC
LRR	355	379	2.43e2	SMART
LRR	382	407	4.87e-4	SMART
low complexity region	481	492	N/A	INTRINSIC
LRR	596	621	1.23e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114047
AA Change: E218G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: E218G

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	19	132	4.4e-11	PFAM
FBOX	202	242	2.31e-9	SMART
low complexity region	283	304	N/A	INTRINSIC
LRR	349	373	2.43e2	SMART
LRR	376	401	4.87e-4	SMART
low complexity region	475	486	N/A	INTRINSIC
LRR	590	615	2.45e0	SMART
LRR	618	643	4.65e-1	SMART
Blast:LRR	644	675	2e-13	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119523
AA Change: E207G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: E207G

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	6	121	2.2e-9	PFAM
FBOX	191	231	2.31e-9	SMART
low complexity region	272	293	N/A	INTRINSIC
LRR	338	362	2.43e2	SMART
LRR	365	390	4.87e-4	SMART
low complexity region	464	475	N/A	INTRINSIC
LRR	579	604	2.45e0	SMART
LRR	607	632	4.65e-1	SMART
Blast:LRR	633	664	2e-13	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121736
AA Change: E181G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753
AA Change: E181G

Domain	Start	End	E-Value	Type
PDB:3V5Z\|B	1	118	2e-71	PDB
FBOX	165	205	2.31e-9	SMART
low complexity region	246	267	N/A	INTRINSIC
LRR	312	336	2.43e2	SMART
LRR	339	364	4.87e-4	SMART
low complexity region	438	449	N/A	INTRINSIC
LRR	553	578	1.23e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124421

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124610
AA Change: E224G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: E224G

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	6	138	5.7e-12	PFAM
FBOX	208	248	1.5e-11	SMART
low complexity region	289	310	N/A	INTRINSIC
LRR	355	379	1e0	SMART
LRR	382	407	2e-6	SMART
low complexity region	481	492	N/A	INTRINSIC
LRR	596	621	1e-2	SMART
LRR	624	649	1.9e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196483
AA Change: E224G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: E224G

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	6	138	1.3e-10	PFAM
FBOX	208	248	2.31e-9	SMART
low complexity region	289	309	N/A	INTRINSIC
LRR	354	378	2.43e2	SMART
LRR	381	406	4.87e-4	SMART
low complexity region	480	491	N/A	INTRINSIC
LRR	595	620	2.45e0	SMART
LRR	623	648	4.65e-1	SMART
Blast:LRR	649	680	2e-13	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000141902
AA Change: E144G

SMART Domains

Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: E144G

Domain	Start	End	E-Value	Type
PDB:3V5Z\|B	2	82	3e-43	PDB
FBOX	129	169	2.31e-9	SMART
low complexity region	210	231	N/A	INTRINSIC
LRR	276	300	2.43e2	SMART
LRR	303	328	4.87e-4	SMART
low complexity region	402	413	N/A	INTRINSIC
LRR	517	542	2.45e0	SMART
LRR	545	570	4.65e-1	SMART
Blast:LRR	571	602	3e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143316

Predicted Effect

probably benign
Transcript: ENSMUST00000199055

SMART Domains

Protein: ENSMUSP00000142582
Gene: ENSMUSG00000039753

Domain	Start	End	E-Value	Type
Pfam:Hemerythrin	6	105	6.1e-7	PFAM

Meta Mutation Damage Score

0.4811

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

97% (87/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before turning of the embryo with iron overload, growth retardation, and hemorrhage. Mice heterozygous for a knock-out allele exhibit abnormal iron homeostasis when fed a low iron diet. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,524,370 (GRCm39)		probably null	Het
Adi1	G	A	12: 28,729,318 (GRCm39)		probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Apob	A	G	12: 8,066,243 (GRCm39)	E4371G	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,408,728 (GRCm39)	C2538W	possibly damaging	Het
Brd10	A	G	19: 29,732,367 (GRCm39)		probably benign	Het
Btbd16	T	C	7: 130,420,802 (GRCm39)	V353A	probably benign	Het
Cad	C	T	5: 31,212,327 (GRCm39)	S10L	possibly damaging	Het
Cdc42bpa	T	C	1: 179,939,352 (GRCm39)	S877P	probably damaging	Het
Cep152	A	T	2: 125,405,552 (GRCm39)	V1660D	probably benign	Het
Clrn2	G	T	5: 45,617,528 (GRCm39)	G133V	probably damaging	Het
Clstn2	T	C	9: 97,338,634 (GRCm39)	I842V	probably benign	Het
Cpt1c	C	T	7: 44,614,548 (GRCm39)	A434T	probably benign	Het
D130052B06Rik	G	T	11: 33,573,477 (GRCm39)	V70L	possibly damaging	Het
Dlg1	T	A	16: 31,612,388 (GRCm39)	V317E	probably damaging	Het
Dock10	T	C	1: 80,514,663 (GRCm39)	E1084G	possibly damaging	Het
Dync2h1	A	G	9: 7,157,646 (GRCm39)	V827A	probably benign	Het
E030030I06Rik	A	G	10: 22,024,832 (GRCm39)	L27P	unknown	Het
Ero1b	T	A	13: 12,589,714 (GRCm39)	L39Q	probably damaging	Het
Erp27	T	C	6: 136,888,609 (GRCm39)	D123G	probably damaging	Het
Fasn	G	T	11: 120,711,735 (GRCm39)	F148L	probably damaging	Het
Fbxw28	A	T	9: 109,158,493 (GRCm39)	D210E	probably damaging	Het
Gm10653	T	A	9: 62,748,796 (GRCm39)		probably benign	Het
Gm17067	A	G	7: 42,357,554 (GRCm39)	L316S	probably benign	Het
Gm29106	T	C	1: 118,127,990 (GRCm39)	S561P	probably damaging	Het
Hmcn1	C	A	1: 150,508,188 (GRCm39)	K3699N	probably benign	Het
Itch	T	A	2: 155,021,009 (GRCm39)		probably null	Het
Itpr3	C	T	17: 27,317,145 (GRCm39)	A800V	probably damaging	Het
Kdm2b	A	T	5: 123,017,650 (GRCm39)	M1052K	probably damaging	Het
Kdm4b	T	C	17: 56,703,576 (GRCm39)	M712T	probably damaging	Het
Kmt5b	A	G	19: 3,852,104 (GRCm39)	E137G	probably damaging	Het
Krt33a	G	A	11: 99,903,289 (GRCm39)	T251I	probably benign	Het
Lrrc4b	G	T	7: 44,111,754 (GRCm39)	R542L	probably benign	Het
Macf1	C	A	4: 123,401,126 (GRCm39)	S653I	probably damaging	Het
Macrod2	G	A	2: 142,160,367 (GRCm39)	V408M	probably damaging	Het
Macroh2a2	T	C	10: 61,583,541 (GRCm39)	T200A	possibly damaging	Het
Mapkapk3	G	T	9: 107,166,425 (GRCm39)	A40E	possibly damaging	Het
Mmp20	G	A	9: 7,639,302 (GRCm39)	V157I	probably benign	Het
Mrps28	T	C	3: 8,988,805 (GRCm39)	R18G	possibly damaging	Het
Msrb2	T	A	2: 19,399,122 (GRCm39)	C162S	probably damaging	Het
Naa80	A	G	9: 107,460,753 (GRCm39)	Y216C	probably damaging	Het
Nckap5	T	G	1: 125,953,523 (GRCm39)	T1078P	possibly damaging	Het
Nectin3	T	C	16: 46,256,763 (GRCm39)	Y91C	probably benign	Het
Nf2	G	T	11: 4,734,566 (GRCm39)		probably null	Het
Or10d1b	G	A	9: 39,613,696 (GRCm39)	A123V	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,789 (GRCm39)	M120L	unknown	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2y10	A	T	11: 49,455,428 (GRCm39)	I227F	possibly damaging	Het
Or4c29	T	C	2: 88,740,380 (GRCm39)	D119G	probably damaging	Het
Or4g7	T	A	2: 111,309,310 (GRCm39)	Y60*	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Oxr1	T	G	15: 41,689,297 (GRCm39)	L507W	probably damaging	Het
Plxna2	A	T	1: 194,481,883 (GRCm39)	K1451M	probably damaging	Het
Plxna2	A	G	1: 194,476,735 (GRCm39)	M1184V	probably benign	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Ppp1r16b	T	C	2: 158,597,137 (GRCm39)	V257A	possibly damaging	Het
Prss56	G	A	1: 87,115,279 (GRCm39)	W498*	probably null	Het
Ptpru	A	G	4: 131,498,604 (GRCm39)	F1329S	probably damaging	Het
Pusl1	A	G	4: 155,973,920 (GRCm39)	F278S	probably damaging	Het
Qars1	A	T	9: 108,390,889 (GRCm39)	L470F	probably damaging	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rora	T	A	9: 69,271,734 (GRCm39)	N181K	probably benign	Het
Rufy3	A	G	5: 88,775,114 (GRCm39)	D262G	probably damaging	Het
Sh3gl2	G	A	4: 85,299,651 (GRCm39)	V212M	probably damaging	Het
Sis	G	A	3: 72,835,641 (GRCm39)	T907I	probably benign	Het
Slc38a3	A	T	9: 107,529,374 (GRCm39)	I456N	probably damaging	Het
Slc4a8	T	A	15: 100,705,220 (GRCm39)	C809S	probably benign	Het
Snap91	A	T	9: 86,707,133 (GRCm39)		probably null	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Speer1m	A	T	5: 11,970,680 (GRCm39)	L84F	probably damaging	Het
Spry1	T	C	3: 37,696,997 (GRCm39)	I80T	possibly damaging	Het
St8sia2	A	G	7: 73,610,458 (GRCm39)	L275P	possibly damaging	Het
Supt7l	C	A	5: 31,684,331 (GRCm39)		probably null	Het
Tdo2	T	A	3: 81,868,747 (GRCm39)	K304N	probably damaging	Het
Tdrd12	A	T	7: 35,184,655 (GRCm39)	Y753N	probably damaging	Het
Topbp1	A	T	9: 103,222,152 (GRCm39)	Q1341L	probably benign	Het
Trim14	G	T	4: 46,506,998 (GRCm39)	A406E	probably benign	Het
Trp63	C	T	16: 25,686,964 (GRCm39)	R393W	probably damaging	Het
Trrap	T	C	5: 144,754,489 (GRCm39)	V1932A	possibly damaging	Het
Trrap	T	C	5: 144,762,724 (GRCm39)	M2399T	possibly damaging	Het
Unc45b	A	G	11: 82,804,153 (GRCm39)	N110S	probably damaging	Het
Usp32	G	T	11: 84,916,408 (GRCm39)	H845Q	probably damaging	Het
Usp44	G	A	10: 93,682,494 (GRCm39)	D268N	probably damaging	Het
Vmn1r18	T	G	6: 57,367,451 (GRCm39)	R34S	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,478 (GRCm39)	Y423*	probably null	Het
Wapl	A	T	14: 34,461,204 (GRCm39)	E1054V	possibly damaging	Het
Zbtb8b	A	G	4: 129,322,286 (GRCm39)	Y392H	probably damaging	Het
Zdhhc2	A	T	8: 40,925,968 (GRCm39)	Q321L	probably null	Het
Zfp983	A	G	17: 21,881,401 (GRCm39)	D443G	probably benign	Het

Other mutations in Fbxl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fbxl5	APN	5	43,922,678 (GRCm39)	missense	probably damaging	1.00
IGL00797:Fbxl5	APN	5	43,915,743 (GRCm39)	missense	probably damaging	1.00
IGL00811:Fbxl5	APN	5	43,915,567 (GRCm39)	missense	probably damaging	1.00
IGL01065:Fbxl5	APN	5	43,902,676 (GRCm39)	missense	probably damaging	1.00
IGL01626:Fbxl5	APN	5	43,916,047 (GRCm39)	missense	probably benign	0.00
IGL02285:Fbxl5	APN	5	43,922,690 (GRCm39)	missense	possibly damaging	0.88
D3080:Fbxl5	UTSW	5	43,915,708 (GRCm39)	missense	probably benign	0.00
PIT4498001:Fbxl5	UTSW	5	43,908,323 (GRCm39)	missense	possibly damaging	0.73
R0195:Fbxl5	UTSW	5	43,928,140 (GRCm39)	missense	probably damaging	1.00
R0647:Fbxl5	UTSW	5	43,925,411 (GRCm39)	missense	probably damaging	0.98
R1540:Fbxl5	UTSW	5	43,915,978 (GRCm39)	missense	possibly damaging	0.92
R1545:Fbxl5	UTSW	5	43,928,140 (GRCm39)	missense	probably damaging	1.00
R1569:Fbxl5	UTSW	5	43,922,803 (GRCm39)	missense	probably damaging	1.00
R1921:Fbxl5	UTSW	5	43,922,832 (GRCm39)	missense	probably benign	0.16
R3081:Fbxl5	UTSW	5	43,908,222 (GRCm39)	missense	probably damaging	1.00
R3776:Fbxl5	UTSW	5	43,915,618 (GRCm39)	missense	possibly damaging	0.57
R4096:Fbxl5	UTSW	5	43,915,583 (GRCm39)	missense	probably benign	0.19
R4275:Fbxl5	UTSW	5	43,920,114 (GRCm39)	intron	probably benign
R4383:Fbxl5	UTSW	5	43,920,305 (GRCm39)	intron	probably benign
R4469:Fbxl5	UTSW	5	43,925,528 (GRCm39)	missense	probably damaging	1.00
R4654:Fbxl5	UTSW	5	43,922,771 (GRCm39)	missense	probably damaging	0.99
R5067:Fbxl5	UTSW	5	43,916,114 (GRCm39)	missense	probably benign	0.00
R5093:Fbxl5	UTSW	5	43,930,896 (GRCm39)	missense	probably damaging	1.00
R5696:Fbxl5	UTSW	5	43,916,182 (GRCm39)	missense	possibly damaging	0.93
R5738:Fbxl5	UTSW	5	43,920,170 (GRCm39)	missense	probably benign	0.30
R6185:Fbxl5	UTSW	5	43,978,894 (GRCm39)	missense	probably benign	0.02
R6842:Fbxl5	UTSW	5	43,930,928 (GRCm39)	missense	probably damaging	1.00
R7234:Fbxl5	UTSW	5	43,915,562 (GRCm39)	missense	probably benign	0.08
R7563:Fbxl5	UTSW	5	43,978,891 (GRCm39)	missense	probably benign	0.00
R7653:Fbxl5	UTSW	5	43,916,116 (GRCm39)	missense	probably benign
R7842:Fbxl5	UTSW	5	43,915,945 (GRCm39)	missense	probably damaging	1.00
R7860:Fbxl5	UTSW	5	43,916,018 (GRCm39)	missense	probably benign	0.00
R8139:Fbxl5	UTSW	5	43,916,087 (GRCm39)	nonsense	probably null
R8393:Fbxl5	UTSW	5	43,925,433 (GRCm39)	missense	possibly damaging	0.94
R8727:Fbxl5	UTSW	5	43,908,362 (GRCm39)	splice site	probably benign
R9616:Fbxl5	UTSW	5	43,916,159 (GRCm39)	missense	probably benign
RF012:Fbxl5	UTSW	5	43,930,847 (GRCm39)	missense	probably damaging	1.00
X0065:Fbxl5	UTSW	5	43,918,140 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCAAACCCTCAAAGTTTCC -3'
(R):5'- AAGGAATCGACTTCAGGCAC -3'

Sequencing Primer
(F):5'- TCCTTTCCCTGGCATTACATAG -3'
(R):5'- AGGCACTGGCTTTTACTCG -3'

Posted On

2017-06-26