Mutagenetix > Incidental Mutation

Incidental Mutation 'R7842:Fbxl5'

606372

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

045896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43901958-43939529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43915945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 489 (I489N)

Ref Sequence

ENSEMBL: ENSMUSP00000045792 (fasta)

Gene Model

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

AlphaFold

Q8C2S5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047857
AA Change: I489N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045792
Gene: ENSMUSG00000039753
AA Change: I489N

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

probably damaging
Transcript: ENSMUST00000087465
AA Change: I489N

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

SMART Domains

Protein: ENSMUSP00000084733
Gene: ENSMUSG00000039753
AA Change: I489N

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: I483N

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

SMART Domains

Protein: ENSMUSP00000109681
Gene: ENSMUSG00000039753
AA Change: I483N

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

probably damaging
Transcript: ENSMUST00000119523
AA Change: I472N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113557
Gene: ENSMUSG00000039753
AA Change: I472N

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

probably damaging
Transcript: ENSMUST00000121736
AA Change: I446N

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

SMART Domains

Protein: ENSMUSP00000112444
Gene: ENSMUSG00000039753
AA Change: I446N

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

probably damaging
Transcript: ENSMUST00000124610
AA Change: I489N

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

SMART Domains

Protein: ENSMUSP00000116720
Gene: ENSMUSG00000039753
AA Change: I489N

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

SMART Domains

Protein: ENSMUSP00000120338
Gene: ENSMUSG00000039753
AA Change: I409N

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

probably damaging
Transcript: ENSMUST00000196483
AA Change: I488N

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

SMART Domains

Protein: ENSMUSP00000143703
Gene: ENSMUSG00000039753
AA Change: I488N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,855,034 (GRCm39)	T3A	unknown	Het
4933412E24Rik	T	C	15: 59,888,422 (GRCm39)	E6G	probably damaging	Het
Abca6	A	G	11: 110,087,523 (GRCm39)	L1135P	possibly damaging	Het
Agps	A	G	2: 75,681,876 (GRCm39)	D113G	probably damaging	Het
Ankhd1	G	T	18: 36,780,881 (GRCm39)	V1978L	probably benign	Het
Ankrd31	T	A	13: 96,957,966 (GRCm39)		probably null	Het
Arhgap5	T	A	12: 52,565,480 (GRCm39)	M817K	possibly damaging	Het
Bdp1	C	A	13: 100,235,637 (GRCm39)	V105F	probably damaging	Het
Brdt	A	G	5: 107,496,454 (GRCm39)	N189D	possibly damaging	Het
Ccdc180	A	T	4: 45,909,428 (GRCm39)	N532I	probably benign	Het
Ccnc	A	C	4: 21,730,480 (GRCm39)	K39T	probably damaging	Het
Cfap251	T	C	5: 123,392,487 (GRCm39)	V207A	unknown	Het
Cfap57	C	A	4: 118,411,952 (GRCm39)	G1231*	probably null	Het
Chd7	A	T	4: 8,854,115 (GRCm39)	T1896S	probably benign	Het
Clk4	A	T	11: 51,171,956 (GRCm39)	H412L	probably benign	Het
Creld1	T	C	6: 113,465,100 (GRCm39)	L109P	probably damaging	Het
Cxxc4	A	T	3: 133,946,093 (GRCm39)	I225L	possibly damaging	Het
Cyp4f39	A	T	17: 32,702,291 (GRCm39)	R263W	probably benign	Het
Dennd10	G	A	19: 60,819,317 (GRCm39)	A263T	not run	Het
Dip2c	T	C	13: 9,656,569 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnah17	C	A	11: 117,970,508 (GRCm39)		probably null	Het
Dnajc10	A	G	2: 80,175,409 (GRCm39)	K599E	probably benign	Het
Dnajc7	C	A	11: 100,489,544 (GRCm39)	R101L	probably benign	Het
Dnttip2	G	A	3: 122,069,990 (GRCm39)	E402K	probably benign	Het
Dusp22	T	A	13: 30,852,774 (GRCm39)		probably null	Het
Egflam	C	A	15: 7,280,675 (GRCm39)	R450M	probably null	Het
Eml5	C	T	12: 98,760,394 (GRCm39)	R1785Q	probably damaging	Het
Fam78b	G	T	1: 166,829,178 (GRCm39)	R15L	probably damaging	Het
Flt3	G	A	5: 147,271,263 (GRCm39)	P893S	probably damaging	Het
Gm17019	T	C	5: 15,081,049 (GRCm39)	M131V	possibly damaging	Het
Gm21560	T	A	14: 6,216,262 (GRCm38)	I194F	probably benign	Het
Gm28729	T	C	9: 96,399,705 (GRCm39)	D158G	probably damaging	Het
Gucy2c	C	T	6: 136,746,814 (GRCm39)		probably null	Het
Hectd1	C	T	12: 51,819,343 (GRCm39)	G1247S	probably damaging	Het
Ireb2	T	A	9: 54,816,970 (GRCm39)	I946K	probably benign	Het
Itgb4	A	T	11: 115,873,531 (GRCm39)	D249V	probably benign	Het
Klhdc7a	A	G	4: 139,694,549 (GRCm39)	S133P	probably damaging	Het
Lsr	A	T	7: 30,665,437 (GRCm39)	D172E	possibly damaging	Het
Macf1	T	C	4: 123,420,702 (GRCm39)	E184G	probably benign	Het
Map2	T	A	1: 66,455,570 (GRCm39)	D1421E	probably benign	Het
Map3k4	A	T	17: 12,490,030 (GRCm39)	L467H	possibly damaging	Het
Mogat1	T	C	1: 78,499,502 (GRCm39)		probably null	Het
Mxra8	A	G	4: 155,927,367 (GRCm39)	D384G	probably damaging	Het
Myo15b	A	G	11: 115,762,321 (GRCm39)	T1214A		Het
Naip1	T	C	13: 100,563,506 (GRCm39)	Y553C	probably damaging	Het
Nln	A	T	13: 104,189,137 (GRCm39)	I278K	probably benign	Het
Nsmaf	T	A	4: 6,435,109 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,102,553 (GRCm39)	R741G	probably damaging	Het
Or4p8	A	G	2: 88,727,305 (GRCm39)	V212A	possibly damaging	Het
Or52e19b	A	G	7: 103,032,783 (GRCm39)	V142A	probably benign	Het
Or5d38	C	T	2: 87,955,330 (GRCm39)		probably benign	Het
Or8j3	G	T	2: 86,028,516 (GRCm39)	Y193*	probably null	Het
Orc1	A	G	4: 108,462,744 (GRCm39)	H607R	probably benign	Het
Pate2	A	T	9: 35,581,829 (GRCm39)	Y41F	probably damaging	Het
Pcdhb20	A	T	18: 37,638,112 (GRCm39)	T213S	possibly damaging	Het
Pcm1	G	A	8: 41,780,621 (GRCm39)	E1858K	possibly damaging	Het
Pla2g2d	A	G	4: 138,506,089 (GRCm39)	T59A	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Prl2c2	A	G	13: 13,179,907 (GRCm39)	L2P	probably benign	Het
Proz	G	A	8: 13,113,406 (GRCm39)	V76I	probably benign	Het
Prr36	A	G	8: 4,260,953 (GRCm39)	S955P	probably benign	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Qrich1	T	A	9: 108,433,567 (GRCm39)		probably null	Het
Rbm15b	T	C	9: 106,763,088 (GRCm39)	E360G	probably damaging	Het
Skint11	G	A	4: 114,101,968 (GRCm39)	C327Y	possibly damaging	Het
Spag17	T	A	3: 99,961,174 (GRCm39)	S987T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Tbx1	T	C	16: 18,405,365 (GRCm39)	S100G	unknown	Het
Tiam2	C	T	17: 3,568,399 (GRCm39)	S1515L	possibly damaging	Het
Togaram1	C	A	12: 65,013,233 (GRCm39)	D161E	probably damaging	Het
Trhde	A	T	10: 114,532,003 (GRCm39)	S366T	possibly damaging	Het
Ttc12	A	G	9: 49,349,724 (GRCm39)	I691T	possibly damaging	Het
Ube4a	A	G	9: 44,861,025 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,235,516 (GRCm39)	I1453N	probably damaging	Het
Unc79	T	C	12: 103,058,313 (GRCm39)	S972P	probably damaging	Het
Wdr20	G	A	12: 110,704,649 (GRCm39)	D63N	probably benign	Het
Wls	T	A	3: 159,578,816 (GRCm39)	I126N	probably benign	Het
Xirp2	A	G	2: 67,355,289 (GRCm39)	D3350G	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
R6029:Fbxl5	UTSW	5	43,922,746 (GRCm39)	missense	probably damaging	0.96
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
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'- TAAAGCTGTCCCTGTACAACAG -3'
(R):5'- CAAGGCTGCTTCAACTCCATG -3'

Sequencing Primer
(F):5'- TGTACAACAGAATGAATGACCAC -3'
(R):5'- GCTGCTTCAACTCCATGGACAAG -3'

Posted On

2019-12-20