Mutagenetix > Incidental Mutation

Incidental Mutation 'R2385:Fbxw22'

247680

Institutional Source

Beutler Lab

Gene Symbol

Fbxw22

Ensembl Gene

ENSMUSG00000070324

Gene Name

F-box and WD-40 domain protein 22

Synonyms

Gm5164

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109207468-109233362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109211210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 364 (S364P)

Ref Sequence

ENSEMBL: ENSMUSP00000079460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080626] [ENSMUST00000197213]

AlphaFold

Q5XG67

Predicted Effect

probably damaging
Transcript: ENSMUST00000080626
AA Change: S364P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079460
Gene: ENSMUSG00000070324
AA Change: S364P

Domain	Start	End	E-Value	Type
FBOX	5	45	1.02e-5	SMART
SCOP:d1gxra_	128	220	1e-5	SMART
Blast:WD40	137	176	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000197213

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,732,749 (GRCm39)	T106A	probably damaging	Het
Adgra3	A	T	5: 50,136,908 (GRCm39)	I595N	possibly damaging	Het
Aox3	A	G	1: 58,177,448 (GRCm39)	E221G	probably damaging	Het
Arpc1a	T	A	5: 145,041,333 (GRCm39)		probably null	Het
Cd180	A	G	13: 102,841,691 (GRCm39)	T246A	probably benign	Het
Cep250	A	G	2: 155,816,261 (GRCm39)	E672G	probably damaging	Het
Cyp2d12	A	T	15: 82,442,696 (GRCm39)	I380F	probably benign	Het
Dock3	A	T	9: 106,868,324 (GRCm39)	D653E	probably damaging	Het
Ift122	T	C	6: 115,889,483 (GRCm39)	Y823H	probably benign	Het
Kif20b	T	C	19: 34,936,819 (GRCm39)	S1365P	probably damaging	Het
Nol11	C	T	11: 107,080,032 (GRCm39)	G18R	probably benign	Het
Or8k3	A	T	2: 86,058,817 (GRCm39)	L166*	probably null	Het
Pde8a	T	G	7: 80,932,740 (GRCm39)	M134R	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Polr3gl	A	G	3: 96,485,862 (GRCm39)	F135L	probably damaging	Het
Sdr16c6	T	A	4: 4,062,671 (GRCm39)	I216F	probably damaging	Het
Slc23a2	T	C	2: 131,931,121 (GRCm39)	D126G	probably benign	Het
Snx13	A	T	12: 35,169,792 (GRCm39)	Y579F	probably benign	Het
Vcan	T	C	13: 89,837,568 (GRCm39)	T1699A	probably damaging	Het

Other mutations in Fbxw22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Fbxw22	APN	9	109,213,108 (GRCm39)	missense	possibly damaging	0.68
IGL00655:Fbxw22	APN	9	109,211,312 (GRCm39)	splice site	probably benign
IGL01122:Fbxw22	APN	9	109,215,739 (GRCm39)	missense	probably damaging	0.99
IGL01419:Fbxw22	APN	9	109,210,790 (GRCm39)	missense	probably benign	0.03
IGL01455:Fbxw22	APN	9	109,214,062 (GRCm39)	missense	probably benign
IGL01486:Fbxw22	APN	9	109,207,941 (GRCm39)	missense	probably damaging	1.00
IGL01734:Fbxw22	APN	9	109,212,993 (GRCm39)	missense	probably damaging	0.98
IGL02106:Fbxw22	APN	9	109,231,087 (GRCm39)	missense	possibly damaging	0.86
IGL02255:Fbxw22	APN	9	109,215,619 (GRCm39)	splice site	probably benign
IGL02466:Fbxw22	APN	9	109,214,160 (GRCm39)	missense	probably damaging	1.00
IGL02820:Fbxw22	APN	9	109,215,732 (GRCm39)	missense	probably damaging	1.00
R0395:Fbxw22	UTSW	9	109,210,753 (GRCm39)	missense	probably damaging	1.00
R0705:Fbxw22	UTSW	9	109,232,164 (GRCm39)	missense	possibly damaging	0.92
R0741:Fbxw22	UTSW	9	109,211,287 (GRCm39)	missense	probably benign	0.01
R1603:Fbxw22	UTSW	9	109,207,915 (GRCm39)	missense	probably benign	0.00
R1673:Fbxw22	UTSW	9	109,211,196 (GRCm39)	missense	possibly damaging	0.93
R1874:Fbxw22	UTSW	9	109,214,179 (GRCm39)	nonsense	probably null
R2265:Fbxw22	UTSW	9	109,213,062 (GRCm39)	missense	probably benign	0.02
R2269:Fbxw22	UTSW	9	109,213,062 (GRCm39)	missense	probably benign	0.02
R4329:Fbxw22	UTSW	9	109,213,111 (GRCm39)	missense	probably damaging	1.00
R4695:Fbxw22	UTSW	9	109,207,939 (GRCm39)	missense	probably damaging	1.00
R4731:Fbxw22	UTSW	9	109,207,937 (GRCm39)	missense	probably benign	0.02
R4915:Fbxw22	UTSW	9	109,213,009 (GRCm39)	missense	probably damaging	1.00
R5010:Fbxw22	UTSW	9	109,232,492 (GRCm39)	missense	probably benign	0.40
R5070:Fbxw22	UTSW	9	109,214,183 (GRCm39)	missense	probably benign
R5319:Fbxw22	UTSW	9	109,213,015 (GRCm39)	missense	possibly damaging	0.52
R5571:Fbxw22	UTSW	9	109,232,156 (GRCm39)	missense	probably damaging	1.00
R5765:Fbxw22	UTSW	9	109,214,064 (GRCm39)	missense	probably benign	0.00
R5846:Fbxw22	UTSW	9	109,215,829 (GRCm39)	missense	probably benign
R6002:Fbxw22	UTSW	9	109,210,750 (GRCm39)	nonsense	probably null
R6180:Fbxw22	UTSW	9	109,215,747 (GRCm39)	missense	probably damaging	1.00
R6313:Fbxw22	UTSW	9	109,232,465 (GRCm39)	missense	probably damaging	0.99
R6860:Fbxw22	UTSW	9	109,213,030 (GRCm39)	missense	probably benign	0.01
R6949:Fbxw22	UTSW	9	109,211,144 (GRCm39)	missense	probably benign	0.06
R7084:Fbxw22	UTSW	9	109,233,291 (GRCm39)	missense	probably damaging	1.00
R7296:Fbxw22	UTSW	9	109,211,143 (GRCm39)	missense	probably benign
R8499:Fbxw22	UTSW	9	109,214,068 (GRCm39)	missense	probably benign	0.00
R9088:Fbxw22	UTSW	9	109,207,952 (GRCm39)	missense	probably damaging	1.00
R9301:Fbxw22	UTSW	9	109,215,653 (GRCm39)	missense	possibly damaging	0.60
R9501:Fbxw22	UTSW	9	109,207,920 (GRCm39)	missense	probably benign	0.01
R9600:Fbxw22	UTSW	9	109,212,986 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAGGCTGCAGTCAATGTCAG -3'
(R):5'- ACTAGCATGCCATGGAAGG -3'

Sequencing Primer
(F):5'- TGCTCTGAGCCCATGTAAAG -3'
(R):5'- CCATGGAAGGAGGGATATGCTTTTC -3'

Posted On

2014-11-11