Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Fbxo41'

592754

Institutional Source

Beutler Lab

Gene Symbol

Fbxo41

Ensembl Gene

ENSMUSG00000047013

Gene Name

F-box protein 41

Synonyms

D6Ertd538e

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85446556-85479976 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85455461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 574 (C574*)

Ref Sequence

ENSEMBL: ENSMUSP00000125671 (fasta)

Gene Model

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

AlphaFold

Q6NS60

Predicted Effect

probably null
Transcript: ENSMUST00000159062
AA Change: C574*

SMART Domains

Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: C574*

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 null
Transcript: ENSMUST00000161078
AA Change: C574*

SMART Domains

Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: C574*

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 null
Transcript: ENSMUST00000161546
AA Change: C574*

SMART Domains

Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: C574*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	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
R6258:Fbxo41	UTSW	6	85,455,537 (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
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'- ATATGAGTAGAGGTCTGAACTGGAC -3'
(R):5'- TTCTCCAGCACGTCCTGAAG -3'

Sequencing Primer
(F):5'- AGGCACTGTGACAGCATCTTG -3'
(R):5'- TCCTGAAGGAGGCAGCG -3'

Posted On

2019-11-12