Mutagenetix > Incidental Mutation

Incidental Mutation 'R4990:Fbxw18'

386138

Institutional Source

Beutler Lab

Gene Symbol

Fbxw18

Ensembl Gene

ENSMUSG00000074059

Gene Name

F-box and WD-40 domain protein 18

Synonyms

MMRRC Submission

042584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109505802-109531768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109517461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 414 (E414G)

Ref Sequence

ENSEMBL: ENSMUSP00000095962 (fasta)

Gene Model

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

AlphaFold

Q3TSA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098359
AA Change: E414G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095962
Gene: ENSMUSG00000074059
AA Change: E414G

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,334,098 (GRCm39)	I1135V	possibly damaging	Het
Abca14	G	A	7: 119,911,388 (GRCm39)	R1324K	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Aplnr	G	A	2: 84,967,721 (GRCm39)	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,717,091 (GRCm39)	K471R	probably benign	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Ccdc152	A	G	15: 3,330,639 (GRCm39)	I12T	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Cenpe	T	A	3: 134,962,401 (GRCm39)	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,243,434 (GRCm39)	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dock2	T	C	11: 34,586,078 (GRCm39)	M535V	probably damaging	Het
Dscam	A	G	16: 96,626,715 (GRCm39)	V398A	probably benign	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hnrnpr	G	A	4: 136,063,609 (GRCm39)	V239I	probably damaging	Het
Hnrnpr	A	G	4: 136,056,690 (GRCm39)	E230G	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Kcnh7	T	C	2: 62,564,632 (GRCm39)	N876D	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lrp2	G	T	2: 69,311,732 (GRCm39)	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Megf6	A	G	4: 154,351,683 (GRCm39)	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,442,669 (GRCm39)	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,356,201 (GRCm39)	S29P	probably benign	Het
Nbeal2	A	C	9: 110,463,871 (GRCm39)	C1174G	probably benign	Het
Neb	C	T	2: 52,145,558 (GRCm39)	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Nt5e	A	G	9: 88,237,646 (GRCm39)	N192S	probably benign	Het
Ntng1	A	T	3: 110,042,577 (GRCm39)		probably null	Het
Or13a17	G	A	7: 140,271,360 (GRCm39)	E181K	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Or4c110	A	T	2: 88,831,816 (GRCm39)	I272K	probably damaging	Het
Or4c15b	A	T	2: 89,113,671 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,513 (GRCm39)	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,440,465 (GRCm39)	I409F	probably damaging	Het
Plg	T	C	17: 12,630,397 (GRCm39)	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619 (GRCm39)	H337R	probably benign	Het
Rasa2	A	G	9: 96,474,042 (GRCm39)	I162T	probably benign	Het
Ror1	A	G	4: 100,299,161 (GRCm39)	I845V	probably benign	Het
Rpl4	T	C	9: 64,082,167 (GRCm39)	V22A	probably benign	Het
Ryr3	T	C	2: 112,740,318 (GRCm39)	N531S	probably damaging	Het
Ryr3	G	T	2: 112,466,122 (GRCm39)	Q4746K	probably damaging	Het
Sbno1	A	T	5: 124,538,228 (GRCm39)	F571I	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Sec22b	T	G	3: 97,828,427 (GRCm39)		probably null	Het
Slc45a2	A	G	15: 11,001,236 (GRCm39)	M112V	probably benign	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Speer1e	A	T	5: 11,236,381 (GRCm39)	E138V	probably damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Trappc11	A	T	8: 47,943,930 (GRCm39)	D1127E	probably benign	Het
Triobp	C	A	15: 78,851,205 (GRCm39)	A453D	probably benign	Het
Tubd1	T	C	11: 86,448,665 (GRCm39)	L295P	probably damaging	Het
Ulk4	C	T	9: 121,021,852 (GRCm39)	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,026,675 (GRCm39)	I442T	probably benign	Het
Wwc1	T	C	11: 35,767,393 (GRCm39)	T413A	probably benign	Het
Zfp131	A	C	13: 120,244,449 (GRCm39)	V77G	probably damaging	Het
Zfyve26	T	C	12: 79,334,607 (GRCm39)	D137G	probably damaging	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
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
R9053:Fbxw18	UTSW	9	109,517,491 (GRCm39)	missense	probably benign	0.02
R9782:Fbxw18	UTSW	9	109,522,376 (GRCm39)	missense	probably benign	0.07

Predicted Primers

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

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

Posted On

2016-05-10