Mutagenetix > Incidental Mutation

Incidental Mutation 'R5170:Fbxo47'

397517

Institutional Source

Beutler Lab

Gene Symbol

Fbxo47

Ensembl Gene

ENSMUSG00000070336

Gene Name

F-box protein 47

Synonyms

LOC380724, 2900052P03Rik

MMRRC Submission

042750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97744652-97774980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97748520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 305 (V305A)

Ref Sequence

ENSEMBL: ENSMUSP00000091471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093939]

AlphaFold

A2A6H3

Predicted Effect

probably benign
Transcript: ENSMUST00000093939
AA Change: V305A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091471
Gene: ENSMUSG00000070336
AA Change: V305A

Domain	Start	End	E-Value	Type
Pfam:F-box	43	80	2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125403

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,745,969 (GRCm39)	I51V	probably benign	Het
Agbl2	A	G	2: 90,633,541 (GRCm39)	K559R	probably benign	Het
Arhgap30	A	G	1: 171,235,618 (GRCm39)	D664G	probably benign	Het
BC034090	A	G	1: 155,089,396 (GRCm39)	V798A	probably damaging	Het
Bdp1	A	T	13: 100,167,302 (GRCm39)	C2237*	probably null	Het
C3	C	T	17: 57,530,938 (GRCm39)	V388M	probably damaging	Het
Ccdc170	G	A	10: 4,464,200 (GRCm39)	E60K	probably damaging	Het
Cdh8	G	A	8: 100,006,182 (GRCm39)	T135M	probably damaging	Het
Cep131	G	T	11: 119,961,435 (GRCm39)	A572E	probably damaging	Het
Clec16a	A	G	16: 10,559,655 (GRCm39)	Y976C	probably benign	Het
Cplx3	G	A	9: 57,522,902 (GRCm39)	R153*	probably null	Het
Defa41	A	T	8: 21,691,696 (GRCm39)	D26V	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Eno3	A	G	11: 70,553,040 (GRCm39)	I393V	probably benign	Het
Fry	G	A	5: 150,353,319 (GRCm39)	V1779M	probably benign	Het
Gtse1	T	C	15: 85,748,465 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,126,396 (GRCm39)	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,558,064 (GRCm39)	T225A	unknown	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Lamc3	A	T	2: 31,777,356 (GRCm39)	M1L	probably benign	Het
Myo16	A	G	8: 10,619,745 (GRCm39)	D1432G	probably benign	Het
Nwd2	A	T	5: 63,963,380 (GRCm39)	N988I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp14	T	C	16: 35,677,649 (GRCm39)	E773G	probably benign	Het
Psen1	T	A	12: 83,761,636 (GRCm39)	M146K	probably damaging	Het
Ptx4	G	A	17: 25,342,152 (GRCm39)	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,291,634 (GRCm39)	T340A	probably damaging	Het
St8sia1	T	C	6: 142,909,434 (GRCm39)	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,684,686 (GRCm39)	D581G	probably benign	Het
Sumo2	G	A	11: 115,425,486 (GRCm39)		probably benign	Het
Supt5	G	A	7: 28,015,508 (GRCm39)	P910S	probably benign	Het
Tbc1d30	T	C	10: 121,142,743 (GRCm39)	Q158R	possibly damaging	Het
Tenm2	T	A	11: 35,915,633 (GRCm39)	H1968L	probably damaging	Het
Trmt1	T	C	8: 85,421,861 (GRCm39)	Y220H	probably damaging	Het
Trp73	C	T	4: 154,189,295 (GRCm39)	E60K	possibly damaging	Het
Ttn	A	G	2: 76,617,413 (GRCm39)	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,441,050 (GRCm39)		probably null	Het
Zfp740	T	C	15: 102,117,640 (GRCm39)	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,392,870 (GRCm39)		probably benign	Het
Zp1	C	A	19: 10,897,918 (GRCm39)	V8F	possibly damaging	Het

Other mutations in Fbxo47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Fbxo47	APN	11	97,768,946 (GRCm39)	missense	probably benign	0.25
IGL01488:Fbxo47	APN	11	97,759,504 (GRCm39)	splice site	probably benign
IGL01924:Fbxo47	APN	11	97,746,986 (GRCm39)	missense	probably damaging	0.99
R0076:Fbxo47	UTSW	11	97,748,481 (GRCm39)	splice site	probably benign
R0076:Fbxo47	UTSW	11	97,748,481 (GRCm39)	splice site	probably benign
R0100:Fbxo47	UTSW	11	97,759,432 (GRCm39)	missense	probably damaging	1.00
R1301:Fbxo47	UTSW	11	97,759,427 (GRCm39)	missense	probably benign
R4688:Fbxo47	UTSW	11	97,747,049 (GRCm39)	missense	probably damaging	0.99
R4746:Fbxo47	UTSW	11	97,770,254 (GRCm39)	missense	probably benign	0.32
R6544:Fbxo47	UTSW	11	97,747,089 (GRCm39)	missense	probably damaging	1.00
R7467:Fbxo47	UTSW	11	97,755,993 (GRCm39)	missense	probably benign	0.02
R7513:Fbxo47	UTSW	11	97,747,055 (GRCm39)	missense	probably damaging	0.96
R8118:Fbxo47	UTSW	11	97,770,341 (GRCm39)	missense	probably benign
R9323:Fbxo47	UTSW	11	97,770,254 (GRCm39)	missense	probably benign	0.32
R9418:Fbxo47	UTSW	11	97,747,067 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CATATTGAGGAAATAGGGACTTGC -3'
(R):5'- CCAGGCATAGGAGTGTATAATCC -3'

Sequencing Primer
(F):5'- GTGCTAGGAATTGAACCTCAGTCC -3'
(R):5'- TTCCTCAAGTCTTTATCACAAAACC -3'

Posted On

2016-07-06