Mutagenetix > Incidental Mutations

Incidental Mutation 'R5983:Fbxw26'

481528

Institutional Source

Beutler Lab

Gene Symbol

Fbxw26

Ensembl Gene

ENSMUSG00000059547

Gene Name

F-box and WD-40 domain protein 26

Synonyms

Gm5163

MMRRC Submission

044164-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109717566-109746089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109717965 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 464 (I464T)

Ref Sequence

ENSEMBL: ENSMUSP00000071811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071917]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071917
AA Change: I464T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071811
Gene: ENSMUSG00000059547
AA Change: I464T

Domain	Start	End	E-Value	Type
FBOX	5	45	2.54e-6	SMART
SCOP:d1tbga_	128	249	1e-5	SMART
Blast:WD40	137	176	4e-7	BLAST

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,819,503	M861K	probably benign	Het
Abhd18	T	A	3: 40,910,544	F73L	probably damaging	Het
Abraxas1	A	G	5: 100,807,911	V237A	probably benign	Het
Adam26b	T	C	8: 43,521,341	Y208C	probably damaging	Het
Aire	A	G	10: 78,043,069	L48P	probably damaging	Het
AU019823	A	G	9: 50,607,842	S157P	probably damaging	Het
Bach2	A	T	4: 32,563,324	E597V	probably damaging	Het
Ccdc170	A	T	10: 4,520,851	R232*	probably null	Het
Cfap100	A	C	6: 90,419,391		probably benign	Het
D430042O09Rik	T	A	7: 125,850,373	W870R	probably damaging	Het
Dppa2	G	A	16: 48,315,841	M185I	probably benign	Het
Ecsit	C	T	9: 22,078,147		probably null	Het
Grm8	T	C	6: 27,760,221	K370R	probably benign	Het
Ide	C	T	19: 37,272,150		probably null	Het
Morn3	T	C	5: 123,037,788	D179G	possibly damaging	Het
Nvl	A	T	1: 181,136,906	D102E	probably benign	Het
Olfr1436	T	A	19: 12,299,103	I10F	probably benign	Het
Rbm5	G	A	9: 107,744,942	P611L	probably damaging	Het
Rsph9	A	G	17: 46,129,480	M230T	probably benign	Het
Sacs	G	A	14: 61,205,199	V1565M	probably damaging	Het
Serpina3n	T	C	12: 104,409,029	L120P	probably damaging	Het
Spsb2	A	C	6: 124,809,748	E148A	probably benign	Het
Tmc2	T	A	2: 130,247,976	M627K	probably damaging	Het
Tmem147	T	C	7: 30,728,059	D111G	probably damaging	Het
Ttn	A	G	2: 76,742,381	V17729A	possibly damaging	Het
Vmn2r104	G	A	17: 20,041,708	P387S	probably damaging	Het
Zfp940	C	T	7: 29,845,052	V477M	possibly damaging	Het
Zw10	A	G	9: 49,077,445		probably null	Het

Other mutations in Fbxw26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Fbxw26	APN	9	109717948	utr 3 prime	probably benign
IGL01072:Fbxw26	APN	9	109723837	missense	probably damaging	1.00
IGL01151:Fbxw26	APN	9	109721780	missense	possibly damaging	0.50
IGL01394:Fbxw26	APN	9	109717989	missense	probably benign	0.00
IGL01432:Fbxw26	APN	9	109717975	missense	probably benign	0.32
IGL02559:Fbxw26	APN	9	109722164	missense	probably benign	0.34
IGL02981:Fbxw26	APN	9	109744794	missense	probably benign	0.09
IGL03370:Fbxw26	APN	9	109746019	missense	probably damaging	1.00
R0023:Fbxw26	UTSW	9	109718011	missense	probably benign	0.01
R0087:Fbxw26	UTSW	9	109724938	missense	probably benign
R0369:Fbxw26	UTSW	9	109723712	critical splice donor site	probably null
R0446:Fbxw26	UTSW	9	109743720	missense	probably benign	0.03
R1844:Fbxw26	UTSW	9	109724878	missense	probably benign	0.42
R1891:Fbxw26	UTSW	9	109722164	missense	probably benign	0.34
R2042:Fbxw26	UTSW	9	109732704	missense	probably damaging	1.00
R3615:Fbxw26	UTSW	9	109743760	nonsense	probably null
R3616:Fbxw26	UTSW	9	109743760	nonsense	probably null
R4659:Fbxw26	UTSW	9	109744871	missense	probably damaging	0.97
R4785:Fbxw26	UTSW	9	109724800	missense	possibly damaging	0.50
R4898:Fbxw26	UTSW	9	109717969	missense	possibly damaging	0.95
R5791:Fbxw26	UTSW	9	109745153	missense	probably damaging	1.00
R5818:Fbxw26	UTSW	9	109732566	missense	probably benign
R5921:Fbxw26	UTSW	9	109746018	missense	probably damaging	1.00
R6145:Fbxw26	UTSW	9	109732623	missense	probably benign	0.09
R6209:Fbxw26	UTSW	9	109717965	missense	possibly damaging	0.49
R6412:Fbxw26	UTSW	9	109732647	missense	probably damaging	0.97
R6842:Fbxw26	UTSW	9	109724920	missense	probably damaging	1.00
R7228:Fbxw26	UTSW	9	109724944	missense	possibly damaging	0.93
R7451:Fbxw26	UTSW	9	109732623	missense	probably benign	0.03
R7467:Fbxw26	UTSW	9	109732697	missense	probably benign	0.00
R8397:Fbxw26	UTSW	9	109732647	missense	probably damaging	0.99
X0020:Fbxw26	UTSW	9	109732632	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAAATGATTTGTACATCTAGCC -3'
(R):5'- TCAGATAGGTACACACAGGCAC -3'

Sequencing Primer
(F):5'- TAGATCAGGCTGGTCTCAGAACTC -3'
(R):5'- TATGAACTCGGCATCTCTGGAAG -3'

Posted On

2017-06-26