Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Fbxw24'

327867

Institutional Source

Beutler Lab

Gene Symbol

Fbxw24

Ensembl Gene

ENSMUSG00000062275

Gene Name

F-box and WD-40 domain protein 24

Synonyms

Gm5162

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109601116-109626057 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109608188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 210 (D210E)

Ref Sequence

ENSEMBL: ENSMUSP00000073617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073962]

AlphaFold

E9PXM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000073962
AA Change: D210E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073617
Gene: ENSMUSG00000062275
AA Change: D210E

Domain	Start	End	E-Value	Type
FBOX	8	45	3.25e-4	SMART
SCOP:d1gxra_	87	227	8e-7	SMART
Blast:WD40	137	176	1e-6	BLAST

Meta Mutation Damage Score

0.1937

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,725,512		probably benign	Het
Arrb1	G	T	7: 99,598,296		probably benign	Het
Cadps	A	G	14: 12,822,323	M139T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Cdca4	A	T	12: 112,821,879	H76Q	probably benign	Het
Ddias	A	G	7: 92,858,079	L876P	probably benign	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,767,819		probably benign	Het
Eme2	A	G	17: 24,893,624	S160P	probably benign	Het
Folr2	T	C	7: 101,840,674	E129G	probably damaging	Het
Gm7682	A	T	5: 94,445,861	Q15L	probably benign	Het
Herc6	T	A	6: 57,659,679	N793K	possibly damaging	Het
Iqcg	T	G	16: 33,030,816	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,775,692		probably benign	Het
Lmod2	A	C	6: 24,604,630	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,665,082	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,248,998	R1050W	probably damaging	Het
Mpp6	C	T	6: 50,198,268	Q520*	probably null	Het
Muc6	T	A	7: 141,637,663	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,135,266	E4048G	probably damaging	Het
Myh3	G	C	11: 67,085,032	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284	V11A	probably benign	Het
Olfr1189	G	A	2: 88,592,421	V206I	probably benign	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Phgdh	A	G	3: 98,314,275	M447T	probably benign	Het
Pmfbp1	G	A	8: 109,532,063	A667T	probably benign	Het
Psmd2	T	G	16: 20,655,026	C230G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc37a3	T	A	6: 39,338,813	Y443F	probably benign	Het
Sorl1	C	A	9: 42,003,992	G1314*	probably null	Het
Spag7	T	C	11: 70,664,862	D83G	probably damaging	Het
St7	C	T	6: 17,854,933	R267*	probably null	Het
Syne2	C	T	12: 76,094,393	S99L	probably damaging	Het
Tacc2	T	G	7: 130,742,211	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Uaca	T	G	9: 60,869,891	V518G	probably damaging	Het
Usp43	T	C	11: 67,855,890	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Wdr3	G	A	3: 100,140,227	T844M	probably benign	Het
Wdr7	T	A	18: 63,778,249	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zmym1	A	T	4: 127,048,104	C830*	probably null	Het

Other mutations in Fbxw24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Fbxw24	APN	9	109604973	missense	probably benign	0.00
IGL01373:Fbxw24	APN	9	109623633	missense	probably damaging	0.98
IGL01996:Fbxw24	APN	9	109605372	missense	possibly damaging	0.84
IGL02179:Fbxw24	APN	9	109609905	nonsense	probably null
IGL02718:Fbxw24	APN	9	109624790	missense	possibly damaging	0.55
IGL02936:Fbxw24	APN	9	109624958	splice site	probably null
IGL03010:Fbxw24	APN	9	109623610	missense	probably benign	0.07
IGL03350:Fbxw24	APN	9	109607013	missense	probably damaging	1.00
IGL03402:Fbxw24	APN	9	109601248	missense	probably damaging	1.00
R0140:Fbxw24	UTSW	9	109605414	missense	possibly damaging	0.73
R0718:Fbxw24	UTSW	9	109623509	splice site	probably benign
R1166:Fbxw24	UTSW	9	109606998	missense	probably benign	0.00
R1550:Fbxw24	UTSW	9	109607044	missense	probably benign	0.00
R1950:Fbxw24	UTSW	9	109605413	missense	probably benign	0.02
R1986:Fbxw24	UTSW	9	109607056	missense	probably damaging	0.97
R2244:Fbxw24	UTSW	9	109605049	missense	possibly damaging	0.66
R3683:Fbxw24	UTSW	9	109608042	missense	possibly damaging	0.51
R4324:Fbxw24	UTSW	9	109604945	critical splice donor site	probably null
R4387:Fbxw24	UTSW	9	109609985	missense	probably damaging	1.00
R4409:Fbxw24	UTSW	9	109608188	missense	probably damaging	1.00
R4803:Fbxw24	UTSW	9	109624842	missense	probably benign	0.02
R5571:Fbxw24	UTSW	9	109606998	missense	probably benign	0.00
R6042:Fbxw24	UTSW	9	109607011	missense	probably benign	0.09
R6523:Fbxw24	UTSW	9	109604980	nonsense	probably null
R6799:Fbxw24	UTSW	9	109624930	missense	probably damaging	1.00
R7122:Fbxw24	UTSW	9	109601260	missense	probably benign	0.03
R7239:Fbxw24	UTSW	9	109605530	missense	possibly damaging	0.71
R7405:Fbxw24	UTSW	9	109607068	missense	possibly damaging	0.46
R7705:Fbxw24	UTSW	9	109608448	splice site	probably null
R8536:Fbxw24	UTSW	9	109623531	missense	probably damaging	1.00
R8873:Fbxw24	UTSW	9	109624928	missense	probably damaging	1.00
R9332:Fbxw24	UTSW	9	109623613	missense	probably damaging	1.00
R9430:Fbxw24	UTSW	9	109609970	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGATATCCCTGAGAACCTTCC -3'
(R):5'- AACCCCAGTTCTAGAGAGCC -3'

Sequencing Primer
(F):5'- TCCAGTCTTCACCATTACTAGAAAAG -3'
(R):5'- CCAGTTCTAGAGAGCCTTGTTTCATG -3'

Posted On

2015-07-07