Mutagenetix > Incidental Mutation

Incidental Mutation 'R6258:Fbxo41'

506468

Institutional Source

Beutler Lab

Gene Symbol

Fbxo41

Ensembl Gene

ENSMUSG00000047013

Gene Name

F-box protein 41

Synonyms

D6Ertd538e

MMRRC Submission

044375-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R6258 (G1)

Quality Score

166.009

Status

Validated

Chromosome

Chromosomal Location

85446556-85479976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85455537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 549 (L549H)

Ref Sequence

ENSEMBL: ENSMUSP00000124754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159062] [ENSMUST00000161078] [ENSMUST00000161546]

AlphaFold

Q6NS60

Predicted Effect

probably damaging
Transcript: ENSMUST00000159062
AA Change: L549H

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

SMART Domains

Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: L549H

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	33	5.81e-2	SMART
low complexity region	65	77	N/A	INTRINSIC
low complexity region	100	122	N/A	INTRINSIC
low complexity region	162	192	N/A	INTRINSIC
SCOP:d1eq1a_	197	340	2e-5	SMART
low complexity region	352	374	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
Pfam:F-box	536	592	4.8e-5	PFAM
Pfam:F-box-like	554	593	9e-10	PFAM
low complexity region	745	759	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161078
AA Change: L549H

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

SMART Domains

Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: L549H

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	33	5.81e-2	SMART
low complexity region	65	77	N/A	INTRINSIC
low complexity region	100	122	N/A	INTRINSIC
low complexity region	162	192	N/A	INTRINSIC
SCOP:d1eq1a_	197	340	2e-5	SMART
low complexity region	352	374	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
Pfam:F-box	536	592	4.8e-5	PFAM
Pfam:F-box-like	554	593	9e-10	PFAM
low complexity region	745	759	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161546
AA Change: L549H

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

SMART Domains

Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: L549H

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	33	5.81e-2	SMART
low complexity region	65	77	N/A	INTRINSIC
low complexity region	100	122	N/A	INTRINSIC
low complexity region	162	192	N/A	INTRINSIC
SCOP:d1eq1a_	197	340	2e-5	SMART
low complexity region	352	374	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
low complexity region	519	540	N/A	INTRINSIC
Pfam:F-box-like	554	593	5.6e-10	PFAM
low complexity region	745	759	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

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. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality and premature death by 10 weeks, growth retardation, abnormal gait, dragging hindlimbs, ataxia, impaired balance, impaired coordination, tremors and abnormal neuronal migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
AU041133	A	G	10: 81,986,992 (GRCm39)	E215G	probably damaging	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Casr	A	G	16: 36,337,971 (GRCm39)	C60R	probably damaging	Het
Cdc7	A	G	5: 107,117,093 (GRCm39)	K84E	probably damaging	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clcc1	G	A	3: 108,580,624 (GRCm39)	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Egflam	T	A	15: 7,263,773 (GRCm39)	T726S	probably damaging	Het
Eml2	T	G	7: 18,913,289 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Faiml	T	C	9: 99,114,513 (GRCm39)	I125M	possibly damaging	Het
Fbxw2	A	T	2: 34,702,825 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,880,161 (GRCm39)	N338K	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm32742	T	A	9: 51,068,862 (GRCm39)	I200F	probably damaging	Het
Gm4924	T	G	10: 82,213,307 (GRCm39)		probably benign	Het
Gm8369	G	A	19: 11,488,973 (GRCm39)	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Ighv5-8	A	G	12: 113,618,611 (GRCm39)	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jakmip1	G	T	5: 37,299,104 (GRCm39)	E775*	probably null	Het
Klhl40	T	C	9: 121,607,026 (GRCm39)	F62S	probably damaging	Het
Krtcap3	A	T	5: 31,409,572 (GRCm39)	R84W	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	T	C	7: 66,360,496 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,996,912 (GRCm39)	L211P	probably damaging	Het
Map2k5	T	A	9: 63,124,647 (GRCm39)	I359F	probably benign	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mef2c	T	A	13: 83,801,057 (GRCm39)	D252E	probably damaging	Het
Methig1	T	C	15: 100,251,422 (GRCm39)	V111A	possibly damaging	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Nf1	A	T	11: 79,456,581 (GRCm39)		probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or5p61	T	C	7: 107,758,181 (GRCm39)	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pde7b	T	C	10: 20,316,546 (GRCm39)	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Samm50	C	G	15: 84,084,512 (GRCm39)	P150A	probably damaging	Het
Samm50	C	A	15: 84,084,513 (GRCm39)	P150H	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Slc6a18	A	T	13: 73,818,164 (GRCm39)	C284*	probably null	Het
Smc3	T	A	19: 53,616,162 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Sucnr1	T	C	3: 59,993,778 (GRCm39)	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,145 (GRCm39)	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ubr3	A	G	2: 69,813,208 (GRCm39)		probably null	Het
Ung	A	T	5: 114,275,361 (GRCm39)	Y250F	probably benign	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Wdr97	C	A	15: 76,239,895 (GRCm39)	S277*	probably null	Het
Zfp1007	T	C	5: 109,824,433 (GRCm39)	H339R	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zscan4-ps1	C	A	7: 10,799,829 (GRCm39)	E353D	probably benign	Het

Other mutations in Fbxo41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Fbxo41	APN	6	85,455,084 (GRCm39)	splice site	probably null
IGL00919:Fbxo41	APN	6	85,455,552 (GRCm39)	missense	probably damaging	1.00
IGL01135:Fbxo41	APN	6	85,454,890 (GRCm39)	missense	probably benign	0.41
IGL02084:Fbxo41	APN	6	85,457,747 (GRCm39)	critical splice donor site	probably null
IGL02343:Fbxo41	APN	6	85,455,153 (GRCm39)	missense	possibly damaging	0.78
IGL03284:Fbxo41	APN	6	85,456,747 (GRCm39)	missense	probably damaging	1.00
R0116:Fbxo41	UTSW	6	85,454,890 (GRCm39)	missense	probably damaging	1.00
R0452:Fbxo41	UTSW	6	85,455,164 (GRCm39)	missense	probably damaging	1.00
R2064:Fbxo41	UTSW	6	85,455,453 (GRCm39)	nonsense	probably null
R2065:Fbxo41	UTSW	6	85,455,453 (GRCm39)	nonsense	probably null
R2067:Fbxo41	UTSW	6	85,455,453 (GRCm39)	nonsense	probably null
R3433:Fbxo41	UTSW	6	85,454,613 (GRCm39)	missense	probably damaging	1.00
R3522:Fbxo41	UTSW	6	85,461,163 (GRCm39)	missense	probably benign	0.00
R4086:Fbxo41	UTSW	6	85,455,528 (GRCm39)	missense	possibly damaging	0.93
R4520:Fbxo41	UTSW	6	85,461,024 (GRCm39)	missense	probably damaging	1.00
R4521:Fbxo41	UTSW	6	85,461,024 (GRCm39)	missense	probably damaging	1.00
R4522:Fbxo41	UTSW	6	85,461,024 (GRCm39)	missense	probably damaging	1.00
R4523:Fbxo41	UTSW	6	85,461,024 (GRCm39)	missense	probably damaging	1.00
R4524:Fbxo41	UTSW	6	85,461,024 (GRCm39)	missense	probably damaging	1.00
R4867:Fbxo41	UTSW	6	85,452,176 (GRCm39)	missense	probably benign
R4970:Fbxo41	UTSW	6	85,454,906 (GRCm39)	missense	probably damaging	1.00
R5000:Fbxo41	UTSW	6	85,460,901 (GRCm39)	missense	probably damaging	0.98
R5112:Fbxo41	UTSW	6	85,454,906 (GRCm39)	missense	probably damaging	1.00
R5330:Fbxo41	UTSW	6	85,456,888 (GRCm39)	missense	probably benign
R5331:Fbxo41	UTSW	6	85,456,888 (GRCm39)	missense	probably benign
R5334:Fbxo41	UTSW	6	85,455,465 (GRCm39)	missense	probably damaging	1.00
R5595:Fbxo41	UTSW	6	85,456,883 (GRCm39)	missense	probably benign	0.00
R5632:Fbxo41	UTSW	6	85,461,486 (GRCm39)	missense	probably damaging	1.00
R5698:Fbxo41	UTSW	6	85,454,638 (GRCm39)	missense	possibly damaging	0.88
R5801:Fbxo41	UTSW	6	85,461,515 (GRCm39)	missense	probably damaging	0.97
R5854:Fbxo41	UTSW	6	85,452,076 (GRCm39)	missense	probably damaging	1.00
R6260:Fbxo41	UTSW	6	85,455,537 (GRCm39)	missense	probably damaging	1.00
R6615:Fbxo41	UTSW	6	85,455,505 (GRCm39)	missense	possibly damaging	0.60
R7061:Fbxo41	UTSW	6	85,452,448 (GRCm39)	missense	probably benign	0.36
R7353:Fbxo41	UTSW	6	85,456,958 (GRCm39)	missense	possibly damaging	0.71
R7681:Fbxo41	UTSW	6	85,455,461 (GRCm39)	nonsense	probably null
R8077:Fbxo41	UTSW	6	85,450,211 (GRCm39)	missense	probably damaging	0.98
R8801:Fbxo41	UTSW	6	85,461,663 (GRCm39)	missense	probably damaging	1.00
X0024:Fbxo41	UTSW	6	85,455,452 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGTTCTGCTGCACAAAG -3'
(R):5'- GGAGGTCTCATACTCACCCATG -3'

Sequencing Primer
(F):5'- CAGTTCTGCTGCACAAAGTTGGG -3'
(R):5'- ATACTCACCCATGCAGGTCCTG -3'

Posted On

2018-03-15