Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03405:Fbxl8'

421577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbxl8

Ensembl Gene

ENSMUSG00000033313

Gene Name

F-box and leucine-rich repeat protein 8

Synonyms

FBL8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03405

Quality Score

Status

Chromosome

Chromosomal Location

105991280-105995958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105994752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 88 (T88K)

Ref Sequence

ENSEMBL: ENSMUSP00000038638 (fasta)

Gene Model

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

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: T88K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: T88K

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: 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: 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: 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: 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

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,907,229 (GRCm39)	V101A	probably benign	Het
Btbd3	G	A	2: 138,121,681 (GRCm39)	M121I	probably damaging	Het
Caprin1	G	A	2: 103,609,850 (GRCm39)	R143C	probably damaging	Het
Cfap206	A	G	4: 34,716,445 (GRCm39)	I340T	possibly damaging	Het
Chmp6	A	G	11: 119,806,273 (GRCm39)	Y33C	probably damaging	Het
Clstn3	T	C	6: 124,415,327 (GRCm39)	D679G	possibly damaging	Het
Col24a1	G	A	3: 145,020,918 (GRCm39)	A430T	possibly damaging	Het
Commd6	A	T	14: 101,874,508 (GRCm39)	V28E	probably damaging	Het
Eno2	T	A	6: 124,740,848 (GRCm39)	Y236F	probably benign	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Evpl	A	G	11: 116,118,753 (GRCm39)	I648T	possibly damaging	Het
Fat1	T	A	8: 45,478,278 (GRCm39)	D2441E	probably damaging	Het
Fat4	T	C	3: 39,012,599 (GRCm39)	V2298A	probably benign	Het
Ganc	A	G	2: 120,264,247 (GRCm39)	H400R	probably damaging	Het
Helb	G	A	10: 119,925,701 (GRCm39)	T892I	probably damaging	Het
Jaml	A	T	9: 45,005,107 (GRCm39)	K124N	possibly damaging	Het
Llgl2	G	T	11: 115,741,668 (GRCm39)	E599D	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nr2e1	G	A	10: 42,444,377 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,890,950 (GRCm39)	K7194R	unknown	Het
Or2o1	A	G	11: 49,051,713 (GRCm39)		probably null	Het
Or5m8	A	G	2: 85,822,230 (GRCm39)	Q23R	possibly damaging	Het
Rasgrf2	A	T	13: 92,044,170 (GRCm39)	I961N	probably damaging	Het
Retreg3	T	C	11: 100,991,795 (GRCm39)	D46G	probably damaging	Het
Rtp2	A	C	16: 23,746,326 (GRCm39)	S122A	probably benign	Het
Sbf2	T	A	7: 110,062,139 (GRCm39)	D146V	probably damaging	Het
Slc39a13	A	G	2: 90,893,448 (GRCm39)	V324A	probably damaging	Het
Sptan1	A	G	2: 29,915,593 (GRCm39)	T2013A	probably damaging	Het
Tnni3k	A	G	3: 154,498,404 (GRCm39)		probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trpm2	G	A	10: 77,801,906 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,539,276 (GRCm39)	L34570P	possibly damaging	Het
Vmn2r100	T	C	17: 19,752,186 (GRCm39)	V806A	probably damaging	Het
Wdr70	A	G	15: 8,065,352 (GRCm39)	S237P	possibly damaging	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zan	T	A	5: 137,422,859 (GRCm39)	D2718V	unknown	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
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
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

Posted On

2016-08-02