Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Fbxo41'

267538

Institutional Source

Beutler Lab

Gene Symbol

Fbxo41

Ensembl Gene

ENSMUSG00000047013

Gene Name

F-box protein 41

Synonyms

D6Ertd538e

Accession Numbers

Essential gene?

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

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85446556-85479976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85461163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 182 (S182P)

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: S182P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125671
Gene: ENSMUSG00000047013
AA Change: S182P

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: S182P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124524
Gene: ENSMUSG00000047013
AA Change: S182P

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: S182P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124754
Gene: ENSMUSG00000047013
AA Change: S182P

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	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
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
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'- AGTGAAGCCAGCAGTTCCAC -3'
(R):5'- TTGAGAGCACGTCCTTCCAG -3'

Sequencing Primer
(F):5'- ACTTGGCGTGAGAGCTCAG -3'
(R):5'- TCCTTCCAGGGCAAGGAACAG -3'

Posted On

2015-02-18