Mutagenetix > Incidental Mutation

Incidental Mutation 'R9053:Fbxw18'

688518

Institutional Source

Beutler Lab

Gene Symbol

Fbxw18

Ensembl Gene

ENSMUSG00000074059

Gene Name

F-box and WD-40 domain protein 18

Synonyms

MMRRC Submission

068879-MU

Accession Numbers

Essential gene?

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

Stock #

R9053 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109505802-109531768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 109517491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 404 (D404A)

Ref Sequence

ENSEMBL: ENSMUSP00000095962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098359]

AlphaFold

Q3TSA9

Predicted Effect

probably benign
Transcript: ENSMUST00000098359
AA Change: D404A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: D404A

Domain	Start	End	E-Value	Type
FBOX	8	48	4.13e-6	SMART
Blast:WD40	140	179	2e-7	BLAST

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,147,402 (GRCm39)	V205A	probably damaging	Het
Acp7	A	G	7: 28,316,616 (GRCm39)	F120L	possibly damaging	Het
Adh4	T	C	3: 138,128,045 (GRCm39)	V157A	probably damaging	Het
Ahsa2	T	C	11: 23,443,314 (GRCm39)	E146G	probably benign	Het
Ank3	T	C	10: 69,822,389 (GRCm39)	S353P		Het
Apob	T	C	12: 8,058,954 (GRCm39)	S2479P	possibly damaging	Het
Arhgef37	A	G	18: 61,641,760 (GRCm39)	L203P	probably damaging	Het
Arpp21	T	A	9: 111,984,583 (GRCm39)	N265I	possibly damaging	Het
Cfap20dc	T	C	14: 8,518,768 (GRCm38)		probably null	Het
Dagla	G	A	19: 10,246,615 (GRCm39)	R162C	probably damaging	Het
Ddx18	T	C	1: 121,489,135 (GRCm39)	D304G	probably damaging	Het
Dnah3	A	T	7: 119,618,987 (GRCm39)	L1638Q	possibly damaging	Het
Dnah6	T	A	6: 73,061,640 (GRCm39)	N2815I	possibly damaging	Het
Dnajc16	T	C	4: 141,510,371 (GRCm39)	D94G	probably benign	Het
Epor	G	T	9: 21,870,655 (GRCm39)	D408E	probably benign	Het
Erbb4	T	C	1: 68,289,779 (GRCm39)	N754S	possibly damaging	Het
Etaa1	A	G	11: 17,895,798 (GRCm39)	I773T	probably benign	Het
Fat4	T	A	3: 38,941,324 (GRCm39)	Y72*	probably null	Het
Flot1	T	A	17: 36,140,859 (GRCm39)	V283E	probably damaging	Het
Gm5145	G	T	17: 20,791,194 (GRCm39)	G191W	probably damaging	Het
Gpr161	G	A	1: 165,134,166 (GRCm39)		probably benign	Het
Helz	C	A	11: 107,563,761 (GRCm39)	Q1734K	unknown	Het
Hycc1	A	G	5: 24,184,579 (GRCm39)	C300R	possibly damaging	Het
Ints1	A	G	5: 139,747,822 (GRCm39)	V1195A	possibly damaging	Het
Khdc4	T	A	3: 88,596,582 (GRCm39)	L121Q	probably damaging	Het
Kmt2a	T	A	9: 44,732,716 (GRCm39)	T2534S	unknown	Het
Lingo3	T	C	10: 80,670,821 (GRCm39)	N370D	probably benign	Het
Lrp1b	A	G	2: 40,748,501 (GRCm39)	V3113A		Het
Mthfs	C	T	9: 89,097,454 (GRCm39)	L104F	probably damaging	Het
Nlgn1	A	T	3: 25,488,607 (GRCm39)	V576D	probably damaging	Het
Nlrc5	A	G	8: 95,217,013 (GRCm39)	R1001G	probably benign	Het
Obscn	C	T	11: 58,972,636 (GRCm39)	A2137T	probably benign	Het
Ociad1	T	A	5: 73,460,951 (GRCm39)	H70Q	probably damaging	Het
Opa1	T	A	16: 29,404,836 (GRCm39)	C11*	probably null	Het
Or4a76	A	G	2: 89,461,161 (GRCm39)	V27A	probably benign	Het
Parp10	T	C	15: 76,125,964 (GRCm39)	E408G	possibly damaging	Het
Pcdhb19	G	A	18: 37,631,143 (GRCm39)	E313K	probably benign	Het
Pmel	G	T	10: 128,551,918 (GRCm39)	A251S	probably benign	Het
Polr3d	G	T	14: 70,678,153 (GRCm39)	P181T	probably damaging	Het
Prmt3	A	T	7: 49,430,104 (GRCm39)	H69L	probably damaging	Het
Rc3h2	A	T	2: 37,289,628 (GRCm39)	Y395N	possibly damaging	Het
Rubcnl	A	T	14: 75,269,717 (GRCm39)	N125I	possibly damaging	Het
Shprh	T	C	10: 11,030,446 (GRCm39)	F221S	probably benign	Het
Skint5	A	T	4: 113,403,684 (GRCm39)	S1179R	unknown	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Slc44a3	T	C	3: 121,320,839 (GRCm39)	Y54C	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Spag5	A	T	11: 78,212,575 (GRCm39)	I1137F	probably benign	Het
Tchp	A	T	5: 114,853,916 (GRCm39)	Y277F	probably benign	Het
Tdrd12	A	C	7: 35,204,468 (GRCm39)	L267W	probably damaging	Het
Tfcp2	A	T	15: 100,396,092 (GRCm39)	I107N		Het
Vmn1r9	T	C	6: 57,048,513 (GRCm39)	V196A	probably benign	Het
Vmn2r62	T	A	7: 42,413,920 (GRCm39)	D841V		Het
Zzef1	G	T	11: 72,813,302 (GRCm39)	R2901L	probably benign	Het

Other mutations in Fbxw18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fbxw18	APN	9	109,522,411 (GRCm39)	missense	probably benign	0.00
IGL00820:Fbxw18	APN	9	109,522,437 (GRCm39)	missense	probably damaging	1.00
IGL01447:Fbxw18	APN	9	109,530,675 (GRCm39)	missense	probably damaging	1.00
IGL01511:Fbxw18	APN	9	109,517,889 (GRCm39)	missense	possibly damaging	0.83
IGL01956:Fbxw18	APN	9	109,522,425 (GRCm39)	missense	probably damaging	0.98
IGL02089:Fbxw18	APN	9	109,530,390 (GRCm39)	missense	probably benign	0.00
PIT4810001:Fbxw18	UTSW	9	109,505,958 (GRCm39)	nonsense	probably null
R0004:Fbxw18	UTSW	9	109,530,381 (GRCm39)	missense	probably damaging	0.96
R0124:Fbxw18	UTSW	9	109,520,583 (GRCm39)	missense	probably benign	0.00
R0375:Fbxw18	UTSW	9	109,517,907 (GRCm39)	missense	possibly damaging	0.63
R1652:Fbxw18	UTSW	9	109,519,695 (GRCm39)	missense	probably benign	0.35
R2153:Fbxw18	UTSW	9	109,522,438 (GRCm39)	missense	probably damaging	1.00
R2294:Fbxw18	UTSW	9	109,505,865 (GRCm39)	missense	probably damaging	1.00
R3738:Fbxw18	UTSW	9	109,517,981 (GRCm39)	missense	possibly damaging	0.57
R4706:Fbxw18	UTSW	9	109,519,585 (GRCm39)	missense	probably benign	0.00
R4982:Fbxw18	UTSW	9	109,531,719 (GRCm39)	start gained	probably benign
R4990:Fbxw18	UTSW	9	109,517,461 (GRCm39)	missense	probably damaging	0.99
R5314:Fbxw18	UTSW	9	109,522,246 (GRCm39)	missense	possibly damaging	0.90
R5520:Fbxw18	UTSW	9	109,520,589 (GRCm39)	missense	probably benign	0.00
R5634:Fbxw18	UTSW	9	109,505,871 (GRCm39)	missense	possibly damaging	0.49
R5718:Fbxw18	UTSW	9	109,520,636 (GRCm39)	missense	probably benign	0.01
R5894:Fbxw18	UTSW	9	109,529,235 (GRCm39)	missense	possibly damaging	0.83
R5928:Fbxw18	UTSW	9	109,529,149 (GRCm39)	missense	probably damaging	0.99
R6175:Fbxw18	UTSW	9	109,505,947 (GRCm39)	missense	probably damaging	1.00
R6696:Fbxw18	UTSW	9	109,517,832 (GRCm39)	missense	probably benign	0.09
R6944:Fbxw18	UTSW	9	109,531,655 (GRCm39)	missense	probably damaging	1.00
R7396:Fbxw18	UTSW	9	109,517,954 (GRCm39)	missense	probably benign	0.19
R7737:Fbxw18	UTSW	9	109,530,331 (GRCm39)	nonsense	probably null
R7883:Fbxw18	UTSW	9	109,517,474 (GRCm39)	missense	probably damaging	1.00
R9002:Fbxw18	UTSW	9	109,519,660 (GRCm39)	missense	probably damaging	1.00
R9782:Fbxw18	UTSW	9	109,522,376 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ACTTTCAATGCATTGATGTGAGGG -3'
(R):5'- GAGATCTTGAGACTATGGGTGGTAC -3'

Sequencing Primer
(F):5'- TGGAACCCAAGTCCTCTGGAAG -3'
(R):5'- TGGAGCACTTTCAGAGTCCAG -3'

Posted On

2021-11-19