Mutagenetix > Incidental Mutations

Incidental Mutation 'R5571:Fbxw24'

435678

Institutional Source

Beutler Lab

Gene Symbol

Fbxw24

Ensembl Gene

ENSMUSG00000062275

Gene Name

F-box and WD-40 domain protein 24

Synonyms

Gm5162

MMRRC Submission

044395-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109601116-109626057 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109606998 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 322 (E322G)

Ref Sequence

ENSEMBL: ENSMUSP00000073617 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000073962
AA Change: E322G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000073617
Gene: ENSMUSG00000062275
AA Change: E322G

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	A	7: 140,249,123	C232S	probably damaging	Het
9530053A07Rik	A	G	7: 28,156,569	D1927G	probably damaging	Het
Atad5	T	C	11: 80,111,556	V1058A	probably benign	Het
Baiap2l2	T	C	15: 79,271,583	H97R	probably damaging	Het
Bax	A	G	7: 45,461,891	S184P	probably damaging	Het
Bsph1	T	G	7: 13,450,915	M1R	probably null	Het
Cbln2	A	G	18: 86,713,148	D27G	probably benign	Het
Cntnap3	G	A	13: 64,903,758	A28V	probably damaging	Het
Col6a3	C	A	1: 90,788,216	R1641L	unknown	Het
Dhrs3	T	G	4: 144,893,564	I17S	probably benign	Het
Ep300	T	C	15: 81,643,217		probably benign	Het
Epb41	T	C	4: 131,937,406		probably benign	Het
Fat4	A	T	3: 39,010,274	E4793V	probably damaging	Het
Fbxw22	T	G	9: 109,403,088	K80N	probably damaging	Het
Fndc7	T	C	3: 108,856,408	I639V	possibly damaging	Het
Folh1	T	C	7: 86,734,120	Y473C	probably damaging	Het
Foxb2	T	A	19: 16,872,767	M292L	probably benign	Het
Gapvd1	A	G	2: 34,715,253	S41P	probably damaging	Het
Gm8298	A	T	3: 59,877,219	H371L	probably damaging	Het
Gmds	A	T	13: 31,917,721		probably null	Het
Gp6	G	T	7: 4,368,900	A302D	probably damaging	Het
Hmgcr	A	T	13: 96,666,663	M8K	probably benign	Het
Itpripl2	C	T	7: 118,489,869	R489Q	probably damaging	Het
Kmo	T	C	1: 175,647,194	V175A	possibly damaging	Het
Lce1i	C	T	3: 92,777,681	G63S	unknown	Het
Lrp1b	T	C	2: 41,408,342	Q155R	probably damaging	Het
Mdm1	T	C	10: 118,159,683	S541P	possibly damaging	Het
Mgea5	T	C	19: 45,777,006	T121A	probably benign	Het
Neto2	C	T	8: 85,640,544	D524N	probably damaging	Het
Olfr1350	T	C	7: 6,570,825	I278T	possibly damaging	Het
Olfr183	A	T	16: 59,000,206	I174L	probably benign	Het
Olfr319	T	A	11: 58,702,051	F117I	probably damaging	Het
Olfr338	A	G	2: 36,377,117	T114A	probably benign	Het
Ppp4r1	C	T	17: 65,803,861	Q21*	probably null	Het
Ryr2	T	A	13: 11,555,448	T4930S	possibly damaging	Het
Siae	G	A	9: 37,616,923	G64D	probably benign	Het
Slc14a2	T	C	18: 78,209,067	M10V	possibly damaging	Het
Ssrp1	C	G	2: 85,044,325	D496E	probably damaging	Het
Steap2	A	G	5: 5,675,912	S371P	probably damaging	Het
Taf6l	G	A	19: 8,783,930	R24W	probably damaging	Het
Tbkbp1	T	C	11: 97,148,729	Q118R	probably damaging	Het
Tln2	C	T	9: 67,334,320	G1001E	possibly damaging	Het
Tm2d3	A	G	7: 65,699,124	N184D	probably damaging	Het
Tmprss2	A	T	16: 97,590,871	W131R	probably null	Het
Ube2d2a	A	G	18: 35,770,478		probably benign	Het
Unc13d	A	G	11: 116,063,654	Y1043H	probably benign	Het
Usp34	T	A	11: 23,457,975	I2600K	probably damaging	Het
Vmn1r198	A	G	13: 22,354,998	Y218C	probably damaging	Het
Vmn2r8	T	C	5: 108,802,240	Y247C	probably damaging	Het
Wdr59	A	T	8: 111,465,831	N699K	probably damaging	Het
Zcchc2	T	C	1: 106,023,672	V579A	probably benign	Het
Zfhx3	A	T	8: 108,955,991	Q3354L	unknown	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
R4410:Fbxw24	UTSW	9	109608188	missense	probably damaging	1.00
R4803:Fbxw24	UTSW	9	109624842	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- ATACAGATCTGTGTGGGTGTATGTA -3'
(R):5'- CCCTGGGCAATTCTCTCTGC -3'

Sequencing Primer
(F):5'- ATCTGTGTGGGTGTATGTATGCATG -3'
(R):5'- CAGGTGTTTTACATGAGCAGCTTAC -3'

Posted On

2016-10-24