Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Fbxo41'

548259

Institutional Source

Beutler Lab

Gene Symbol

Fbxo41

Ensembl Gene

ENSMUSG00000047013

Gene Name

F-box protein 41

Synonyms

D6Ertd538e

MMRRC Submission

045384-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85469574-85502994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85475466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 738 (R738S)

Ref Sequence

ENSEMBL: ENSMUSP00000124754 (fasta)

Gene Model

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

AlphaFold

Q6NS60

Predicted Effect

probably benign
Transcript: ENSMUST00000159062
AA Change: R738S

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: R738S

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 benign
Transcript: ENSMUST00000161078
AA Change: R738S

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: R738S

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 benign
Transcript: ENSMUST00000161546
AA Change: R738S

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: R738S

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065 (GRCm38)	M660T	probably benign	Het
Aard	G	A	15: 52,040,221 (GRCm38)	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774 (GRCm38)	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881 (GRCm38)	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009 (GRCm38)	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316 (GRCm38)	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594 (GRCm38)	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965 (GRCm38)	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678 (GRCm38)	C191*	probably null	Het
Cpox	A	G	16: 58,670,860 (GRCm38)	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171 (GRCm38)	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731 (GRCm38)		probably null	Het
Dennd5a	T	C	7: 109,905,179 (GRCm38)	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852 (GRCm38)	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254 (GRCm38)	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063 (GRCm38)	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009 (GRCm38)	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322 (GRCm38)	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375 (GRCm38)	I147F	probably benign	Het
Evc	T	C	5: 37,319,102 (GRCm38)	T368A	possibly damaging	Het
Fli1	T	C	9: 32,424,222 (GRCm38)	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128 (GRCm38)		probably benign	Het
Gm8897	T	C	5: 11,419,104 (GRCm38)	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092 (GRCm38)	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225 (GRCm38)	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177 (GRCm38)	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514 (GRCm38)	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148 (GRCm38)	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126 (GRCm38)	K218E	unknown	Het
Hydin	A	T	8: 110,603,288 (GRCm38)	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902 (GRCm38)		probably null	Het
Igfals	T	C	17: 24,880,307 (GRCm38)	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371 (GRCm38)	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922 (GRCm38)	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235 (GRCm38)	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386 (GRCm38)	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801 (GRCm38)	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404 (GRCm38)	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441 (GRCm38)	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867 (GRCm38)	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783 (GRCm38)	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676 (GRCm38)	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646 (GRCm38)	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923 (GRCm38)	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981 (GRCm38)	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536 (GRCm38)		probably null	Het
Prob1	A	T	18: 35,654,500 (GRCm38)	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417 (GRCm38)	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963 (GRCm38)	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283 (GRCm38)	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090 (GRCm38)	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167 (GRCm38)	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064 (GRCm38)	T575I	probably benign	Het
Smo	A	G	6: 29,760,230 (GRCm38)	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479 (GRCm38)	M1V	probably null	Het
Ttn	C	A	2: 76,894,692 (GRCm38)		probably benign	Het
Ugt3a1	A	T	15: 9,306,154 (GRCm38)	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297 (GRCm38)	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156 (GRCm38)	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311 (GRCm38)	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754 (GRCm38)	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072 (GRCm38)	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017 (GRCm38)	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197 (GRCm38)	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997 (GRCm38)	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401 (GRCm38)	V239D	possibly damaging	Het

Other mutations in Fbxo41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Fbxo41	APN	6	85,478,102 (GRCm38)	splice site	probably null
IGL00919:Fbxo41	APN	6	85,478,570 (GRCm38)	missense	probably damaging	1.00
IGL01135:Fbxo41	APN	6	85,477,908 (GRCm38)	missense	probably benign	0.41
IGL02084:Fbxo41	APN	6	85,480,765 (GRCm38)	critical splice donor site	probably null
IGL02343:Fbxo41	APN	6	85,478,171 (GRCm38)	missense	possibly damaging	0.78
IGL03284:Fbxo41	APN	6	85,479,765 (GRCm38)	missense	probably damaging	1.00
R0116:Fbxo41	UTSW	6	85,477,908 (GRCm38)	missense	probably damaging	1.00
R0452:Fbxo41	UTSW	6	85,478,182 (GRCm38)	missense	probably damaging	1.00
R2064:Fbxo41	UTSW	6	85,478,471 (GRCm38)	nonsense	probably null
R2065:Fbxo41	UTSW	6	85,478,471 (GRCm38)	nonsense	probably null
R2067:Fbxo41	UTSW	6	85,478,471 (GRCm38)	nonsense	probably null
R3433:Fbxo41	UTSW	6	85,477,631 (GRCm38)	missense	probably damaging	1.00
R3522:Fbxo41	UTSW	6	85,484,181 (GRCm38)	missense	probably benign	0.00
R4086:Fbxo41	UTSW	6	85,478,546 (GRCm38)	missense	possibly damaging	0.93
R4520:Fbxo41	UTSW	6	85,484,042 (GRCm38)	missense	probably damaging	1.00
R4521:Fbxo41	UTSW	6	85,484,042 (GRCm38)	missense	probably damaging	1.00
R4522:Fbxo41	UTSW	6	85,484,042 (GRCm38)	missense	probably damaging	1.00
R4523:Fbxo41	UTSW	6	85,484,042 (GRCm38)	missense	probably damaging	1.00
R4524:Fbxo41	UTSW	6	85,484,042 (GRCm38)	missense	probably damaging	1.00
R4867:Fbxo41	UTSW	6	85,475,194 (GRCm38)	missense	probably benign
R4970:Fbxo41	UTSW	6	85,477,924 (GRCm38)	missense	probably damaging	1.00
R5000:Fbxo41	UTSW	6	85,483,919 (GRCm38)	missense	probably damaging	0.98
R5112:Fbxo41	UTSW	6	85,477,924 (GRCm38)	missense	probably damaging	1.00
R5330:Fbxo41	UTSW	6	85,479,906 (GRCm38)	missense	probably benign
R5331:Fbxo41	UTSW	6	85,479,906 (GRCm38)	missense	probably benign
R5334:Fbxo41	UTSW	6	85,478,483 (GRCm38)	missense	probably damaging	1.00
R5595:Fbxo41	UTSW	6	85,479,901 (GRCm38)	missense	probably benign	0.00
R5632:Fbxo41	UTSW	6	85,484,504 (GRCm38)	missense	probably damaging	1.00
R5698:Fbxo41	UTSW	6	85,477,656 (GRCm38)	missense	possibly damaging	0.88
R5801:Fbxo41	UTSW	6	85,484,533 (GRCm38)	missense	probably damaging	0.97
R5854:Fbxo41	UTSW	6	85,475,094 (GRCm38)	missense	probably damaging	1.00
R6258:Fbxo41	UTSW	6	85,478,555 (GRCm38)	missense	probably damaging	1.00
R6260:Fbxo41	UTSW	6	85,478,555 (GRCm38)	missense	probably damaging	1.00
R6615:Fbxo41	UTSW	6	85,478,523 (GRCm38)	missense	possibly damaging	0.60
R7353:Fbxo41	UTSW	6	85,479,976 (GRCm38)	missense	possibly damaging	0.71
R7681:Fbxo41	UTSW	6	85,478,479 (GRCm38)	nonsense	probably null
R8077:Fbxo41	UTSW	6	85,473,229 (GRCm38)	missense	probably damaging	0.98
R8801:Fbxo41	UTSW	6	85,484,681 (GRCm38)	missense	probably damaging	1.00
X0024:Fbxo41	UTSW	6	85,478,470 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGCCTGGTGACAAAGTCC -3'
(R):5'- GCTGCCTGGTGTAGTGAAAG -3'

Sequencing Primer
(F):5'- TGGTGACAAAGTCCCCGGC -3'
(R):5'- GAGTCAGAGATGAGCTACTTTCTGAC -3'

Posted On

2019-05-13