Mutagenetix > Incidental Mutations

Incidental Mutation 'R6842:Fbxw26'

533914

Institutional Source

Beutler Lab

Gene Symbol

Fbxw26

Ensembl Gene

ENSMUSG00000059547

Gene Name

F-box and WD-40 domain protein 26

Synonyms

Gm5163

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6842 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109717566-109746089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109724920 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 217 (I217N)

Ref Sequence

ENSEMBL: ENSMUSP00000071811 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071917
AA Change: I217N

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

SMART Domains

Protein: ENSMUSP00000071811
Gene: ENSMUSG00000059547
AA Change: I217N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,877,432	N69S	probably benign	Het
9130011E15Rik	A	G	19: 45,818,977	V660A	probably benign	Het
Adgrl3	C	T	5: 81,741,080	A1042V	probably damaging	Het
Armc4	C	T	18: 7,268,401	D373N	probably benign	Het
C1s2	T	A	6: 124,627,502	H395L	probably benign	Het
Cacna1e	A	G	1: 154,483,117	I307T	probably damaging	Het
Cap2	T	C	13: 46,646,625	S381P	probably damaging	Het
Cbfa2t2	A	G	2: 154,524,045	T392A	probably benign	Het
Ccdc127	T	C	13: 74,356,969	I212T	probably damaging	Het
Cela3a	A	G	4: 137,405,668	V91A	probably benign	Het
Cep85	C	G	4: 134,155,856	A241P	probably benign	Het
Csmd2	T	C	4: 128,509,159	F2347L	possibly damaging	Het
Ddx19a	A	G	8: 110,978,625	V288A	possibly damaging	Het
Fbxl5	T	C	5: 43,773,586	E53G	probably damaging	Het
Fgfr1op2	T	A	6: 146,590,038		probably null	Het
Ighv1-37	A	T	12: 114,896,655	I6N	probably damaging	Het
Klhdc10	T	C	6: 30,439,782	L128P	probably damaging	Het
Lypla1	C	T	1: 4,832,340	S24F	probably benign	Het
Mme	T	A	3: 63,362,044	D591E	probably damaging	Het
Mmp1b	T	A	9: 7,384,888	I254F	probably damaging	Het
Msr1	T	C	8: 39,632,825	M5V	probably benign	Het
Myh8	A	G	11: 67,284,655	D312G	probably damaging	Het
Nav2	T	C	7: 49,458,169	Y709H	possibly damaging	Het
Oas1g	T	C	5: 120,887,558	E2G	probably benign	Het
Ocm	T	A	5: 144,025,691	I6F	unknown	Het
Olfr160	T	C	9: 37,711,589	N230S	probably benign	Het
Olfr275	T	C	4: 52,825,576	Y60H	probably damaging	Het
Olfr693	T	C	7: 106,677,886	Y200C	probably damaging	Het
Olfr870	A	G	9: 20,171,253	L106P	possibly damaging	Het
Pax1	A	G	2: 147,373,720	D419G	probably benign	Het
Plbd1	T	A	6: 136,635,614	I194F	probably benign	Het
Prdx6	A	T	1: 161,247,370	C47S	probably damaging	Het
Sec24d	T	C	3: 123,343,219	S534P	probably benign	Het
Sgk3	T	C	1: 9,898,754	V452A	probably benign	Het
Sipa1l1	T	C	12: 82,420,546	V1177A	probably benign	Het
Tgfbr1	T	C	4: 47,383,757	C32R	probably damaging	Het
Trim66	T	C	7: 109,460,776	N801S	probably benign	Het
Utp6	C	T	11: 79,940,949	S504N	probably benign	Het
Wdsub1	A	C	2: 59,878,188	S114A	probably benign	Het
Wfikkn2	T	C	11: 94,238,040	E425G	probably damaging	Het
Zfp956	C	T	6: 47,963,829	T374I	possibly damaging	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
R5983:Fbxw26	UTSW	9	109717965	missense	possibly damaging	0.49
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
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
X0020:Fbxw26	UTSW	9	109732632	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGGACTGGAATTTCCC -3'
(R):5'- AGATCTAGAGAGTCTTACTCCATGG -3'

Sequencing Primer
(F):5'- GAGGACTGGAATTTCCCACTGTC -3'
(R):5'- GAGTCTTACTCCATGGAATCAGTGC -3'

Posted On

2018-09-12