Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Fbxl8'

381652

Institutional Source

Beutler Lab

Gene Symbol

Fbxl8

Ensembl Gene

ENSMUSG00000033313

Gene Name

F-box and leucine-rich repeat protein 8

Synonyms

FBL8

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4957 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

105991280-105995958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105994827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 113 (E113G)

Ref Sequence

ENSEMBL: ENSMUSP00000038638 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000036221
AA Change: E113G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: E113G

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

SMART Domains

Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313

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: ENSMUST00000173102

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

Meta Mutation Damage Score

0.2489

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
6820408C15Rik	T	A	2: 152,286,013 (GRCm39)	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,231,786 (GRCm39)	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,448,303 (GRCm39)	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,404,027 (GRCm39)		probably benign	Het
Cd74	A	G	18: 60,942,109 (GRCm39)	N113D	probably benign	Het
Cdc25b	T	C	2: 131,035,525 (GRCm39)	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,759,315 (GRCm39)	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,760,547 (GRCm39)	I310T	probably damaging	Het
Creb5	A	T	6: 53,670,907 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,935,231 (GRCm39)	Q460R	probably benign	Het
Dnah17	A	T	11: 117,965,124 (GRCm39)	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,289,120 (GRCm39)	H215L	probably damaging	Het
Enkd1	A	G	8: 106,431,121 (GRCm39)	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892 (GRCm39)	A407V	probably damaging	Het
Ercc3	G	T	18: 32,376,170 (GRCm39)	G130W	probably damaging	Het
Frmpd1	T	G	4: 45,273,099 (GRCm39)	N339K	probably damaging	Het
Frrs1	G	A	3: 116,678,897 (GRCm39)	D240N	probably benign	Het
Gemin2	A	G	12: 59,063,954 (GRCm39)	S105G	probably benign	Het
Glra1	T	A	11: 55,418,224 (GRCm39)	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,687,503 (GRCm39)	P354S	probably damaging	Het
Gpr15	G	T	16: 58,538,537 (GRCm39)	A184E	probably damaging	Het
Grm7	G	A	6: 111,335,824 (GRCm39)	G745E	probably damaging	Het
H2-T10	T	A	17: 36,428,308 (GRCm39)		probably benign	Het
Hdac5	C	A	11: 102,096,082 (GRCm39)		probably benign	Het
Ift22	G	A	5: 136,937,070 (GRCm39)		probably benign	Het
Ighg3	T	C	12: 113,324,750 (GRCm39)	E34G	unknown	Het
Itga11	A	T	9: 62,674,930 (GRCm39)	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,871 (GRCm39)	V282A	possibly damaging	Het
Maml2	A	G	9: 13,531,572 (GRCm39)	K262R	probably damaging	Het
Mme	T	A	3: 63,250,910 (GRCm39)		probably benign	Het
Mnat1	A	G	12: 73,170,652 (GRCm39)	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,281 (GRCm39)	T34S	possibly damaging	Het
Ncaph	T	C	2: 126,963,177 (GRCm39)	D352G	possibly damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4f17-ps1	C	A	2: 111,358,569 (GRCm39)	N321K	probably benign	Het
Or5m9b	T	A	2: 85,905,854 (GRCm39)	Y257N	probably damaging	Het
Or9g8	T	C	2: 85,607,459 (GRCm39)	F177S	probably damaging	Het
Pcdhb13	T	A	18: 37,577,837 (GRCm39)	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,763,577 (GRCm39)	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,281 (GRCm39)	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,583,469 (GRCm39)	T772I	probably benign	Het
Ryr2	T	C	13: 11,799,966 (GRCm39)	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,416,460 (GRCm39)	E634G	probably benign	Het
Scart1	T	C	7: 139,808,435 (GRCm39)	V782A	probably damaging	Het
Skic3	T	G	13: 76,333,232 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,553,260 (GRCm39)	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,365,194 (GRCm39)	T176S	probably benign	Het
Srsf10	T	C	4: 135,583,541 (GRCm39)	S2P	probably damaging	Het
Tcam1	T	A	11: 106,173,705 (GRCm39)	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,919,864 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,223 (GRCm39)	H390Q	probably benign	Het
Tlk2	T	C	11: 105,144,185 (GRCm39)		probably null	Het
Tnc	G	C	4: 63,894,793 (GRCm39)	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 144,973,327 (GRCm39)	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 144,973,328 (GRCm39)	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,889,266 (GRCm39)	E264V	probably damaging	Het
Ugt3a1	G	A	15: 9,365,274 (GRCm39)	V296I	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,947,129 (GRCm39)	E541A	probably benign	Het
Ybx1	A	T	4: 119,136,135 (GRCm39)		probably benign	Het
Zfp39	T	A	11: 58,782,057 (GRCm39)	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,603,904 (GRCm39)	K32*	probably null	Het
Zpbp2	T	A	11: 98,442,150 (GRCm39)		probably null	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
R3848:Fbxl8	UTSW	8	105,993,781 (GRCm39)	missense	probably benign	0.04
R3850:Fbxl8	UTSW	8	105,993,781 (GRCm39)	missense	probably benign	0.04
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'- GCTGGAAGACTTGTTGCCAC -3'
(R):5'- CCTCCAGTAGTTTGAGCACAG -3'

Sequencing Primer
(F):5'- GGAAGACTTGTTGCCACCATATCTG -3'
(R):5'- CGCTGTTCACCAGTGCATG -3'

Posted On

2016-04-27