Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Fbxl8'

547215

Institutional Source

Beutler Lab

Gene Symbol

Fbxl8

Ensembl Gene

ENSMUSG00000033313

Gene Name

F-box and leucine-rich repeat protein 8

Synonyms

FBL8

MMRRC Submission

045143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105991280-105995958 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 105993647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000038638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034359] [ENSMUST00000036127] [ENSMUST00000036221] [ENSMUST00000126923] [ENSMUST00000144762] [ENSMUST00000163734] [ENSMUST00000172525] [ENSMUST00000173102] [ENSMUST00000173640] [ENSMUST00000173859] [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 null
Transcript: ENSMUST00000036221
AA Change: M1K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: M1K

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 null
Transcript: ENSMUST00000126923
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313
AA Change: M1K

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

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: 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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	A	4: 32,815,260 (GRCm39)	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,650,634 (GRCm39)	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,881,134 (GRCm39)	K1066*	probably null	Het
Ckap5	T	C	2: 91,407,946 (GRCm39)	I824T	probably benign	Het
Cracdl	C	T	1: 37,651,361 (GRCm39)	D1169N	possibly damaging	Het
Ctbp2	T	C	7: 132,616,831 (GRCm39)	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,520,493 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,301,634 (GRCm39)		probably null	Het
Fat4	G	C	3: 39,064,959 (GRCm39)	A4972P	probably benign	Het
Fat4	C	T	3: 39,064,960 (GRCm39)	A4972V	probably benign	Het
Glyat	T	C	19: 12,627,629 (GRCm39)	S75P	probably benign	Het
Gm3543	T	A	14: 41,802,023 (GRCm39)	I154F	probably damaging	Het
Gm4565	T	A	7: 22,282,795 (GRCm39)	M8L	probably benign	Het
Gpr179	T	C	11: 97,240,616 (GRCm39)	Q269R	probably benign	Het
Hjv	C	A	3: 96,434,790 (GRCm39)	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,578,060 (GRCm39)	H483R	possibly damaging	Het
Il25	G	A	14: 55,170,615 (GRCm39)	A63T	probably benign	Het
Krt27	T	A	11: 99,237,640 (GRCm39)	N366I	probably benign	Het
Mfge8	A	G	7: 78,792,268 (GRCm39)	V219A	probably benign	Het
Nrbp1	T	C	5: 31,407,290 (GRCm39)	V373A	probably damaging	Het
Or4c100	A	G	2: 88,356,830 (GRCm39)	N301S	probably benign	Het
Otulinl	A	G	15: 27,657,321 (GRCm39)		probably benign	Het
Pcdh20	A	G	14: 88,706,607 (GRCm39)	I231T	probably damaging	Het
Pfkp	A	G	13: 6,631,603 (GRCm39)	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,286,013 (GRCm39)	I1084T	probably benign	Het
Poteg	T	C	8: 27,939,923 (GRCm39)	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,345 (GRCm39)	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,203,628 (GRCm39)	D358G	probably damaging	Het
Slx9	T	C	10: 77,350,226 (GRCm39)	D35G	possibly damaging	Het
Snapc4	A	G	2: 26,259,965 (GRCm39)	S495P	probably damaging	Het
Surf6	A	G	2: 26,789,368 (GRCm39)	I123T	probably damaging	Het
Sybu	A	T	15: 44,541,091 (GRCm39)	S324T	possibly damaging	Het
Trim3	A	T	7: 105,267,421 (GRCm39)	S319R	probably damaging	Het
Trmt11	A	G	10: 30,466,930 (GRCm39)	F72L	probably benign	Het
Tsks	C	T	7: 44,593,216 (GRCm39)	R61W	probably damaging	Het
Ube2k	T	C	5: 65,738,772 (GRCm39)	V36A	possibly damaging	Het
Ube3a	T	C	7: 58,938,161 (GRCm39)	V688A	probably damaging	Het
Vegfc	A	G	8: 54,610,080 (GRCm39)	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 11,775,761 (GRCm39)	R179Q	probably benign	Het
Vmn2r97	T	A	17: 19,134,629 (GRCm39)	F16I	probably benign	Het
Zfp451	A	T	1: 33,841,248 (GRCm39)		probably benign	Het
Zfp600	C	T	4: 146,131,892 (GRCm39)	Q187*	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
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
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'- TGCTAAGCCATCTCACAGCC -3'
(R):5'- TTGGTATATAACAGGCAGCCAATG -3'

Sequencing Primer
(F):5'- TCACAGCCTGGGATCTCTG -3'
(R):5'- AGCCAATGAGCCTGTCTTCAC -3'

Posted On

2019-05-13