Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Fbxl8'

275765

Institutional Source

Beutler Lab

Gene Symbol

Fbxl8

Ensembl Gene

ENSMUSG00000033313

Gene Name

F-box and leucine-rich repeat protein 8

Synonyms

FBL8

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3848 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

105991280-105995958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105993781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000115366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034359] [ENSMUST00000036127] [ENSMUST00000036221] [ENSMUST00000126923] [ENSMUST00000144762] [ENSMUST00000163734] [ENSMUST00000173640] [ENSMUST00000173859] [ENSMUST00000172525] [ENSMUST00000174837] [ENSMUST00000173102]

AlphaFold

Q8CIG9

Predicted Effect

probably benign
Transcript: ENSMUST00000034359

SMART Domains

Protein: ENSMUSP00000034359
Gene: ENSMUSG00000031887

Domain	Start	End	E-Value	Type
Pfam:TRADD_N	51	161	2.9e-49	PFAM
DEATH	203	303	1.14e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036127

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	383	8e-88	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000036221
AA Change: S46P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: S46P

Domain	Start	End	E-Value	Type
FBOX	8	48	2.72e-6	SMART
low complexity region	102	113	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126923
AA Change: S46P

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313
AA Change: S46P

Domain	Start	End	E-Value	Type
FBOX	8	48	2.72e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144762

SMART Domains

Protein: ENSMUSP00000119174
Gene: ENSMUSG00000031887

Domain	Start	End	E-Value	Type
PDB:1F2H\|A	1	50	7e-23	PDB
SCOP:d1f3va_	8	50	4e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147670

SMART Domains

Protein: ENSMUSP00000115535
Gene: ENSMUSG00000031887

Domain	Start	End	E-Value	Type
PDB:1F2H\|A	1	56	6e-23	PDB
SCOP:d1f3va_	8	50	1e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163734

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	9	60	1.43e-1	SMART
Blast:HSF	99	323	2e-88	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173640

SMART Domains

Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	284	1e-50	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173859

SMART Domains

Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	353	1e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172525

SMART Domains

Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	243	3e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174837

SMART Domains

Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	290	3e-50	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173102

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

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 the 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. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kifbp	A	G	10: 62,405,249 (GRCm39)	Y64H	probably damaging	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Fbxl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02794:Fbxl8	APN	8	105,994,752 (GRCm39)	missense	probably benign	0.01
IGL03405:Fbxl8	APN	8	105,994,752 (GRCm39)	missense	probably benign	0.07
R0993:Fbxl8	UTSW	8	105,993,717 (GRCm39)	missense	probably damaging	1.00
R1861:Fbxl8	UTSW	8	105,995,561 (GRCm39)	missense	probably damaging	1.00
R2042:Fbxl8	UTSW	8	105,994,856 (GRCm39)	missense	probably damaging	0.96
R3850:Fbxl8	UTSW	8	105,993,781 (GRCm39)	missense	probably benign	0.04
R4957:Fbxl8	UTSW	8	105,994,827 (GRCm39)	missense	probably damaging	0.99
R5153:Fbxl8	UTSW	8	105,993,739 (GRCm39)	missense	probably damaging	1.00
R5161:Fbxl8	UTSW	8	105,995,538 (GRCm39)	missense	possibly damaging	0.71
R6597:Fbxl8	UTSW	8	105,995,523 (GRCm39)	missense	probably benign	0.00
R6603:Fbxl8	UTSW	8	105,994,842 (GRCm39)	missense	probably damaging	0.98
R6962:Fbxl8	UTSW	8	105,995,338 (GRCm39)	missense	possibly damaging	0.71
R7044:Fbxl8	UTSW	8	105,993,647 (GRCm39)	start codon destroyed	probably null	0.99
R7566:Fbxl8	UTSW	8	105,994,938 (GRCm39)	missense	possibly damaging	0.82
R8027:Fbxl8	UTSW	8	105,994,758 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTTTAGTCACAGCAGCTGG -3'
(R):5'- ATGCTCAGTAGTCGGTGGAG -3'

Sequencing Primer
(F):5'- GGAGCAGCAGGCCCCTC -3'
(R):5'- CCATTTCCTGTCTGTGCAAAGGAG -3'

Posted On

2015-04-06