Mutagenetix > Incidental Mutation

Incidental Mutation 'R9121:Fbxw19'

692784

Institutional Source

Beutler Lab

Gene Symbol

Fbxw19

Ensembl Gene

ENSMUSG00000074061

Gene Name

F-box and WD-40 domain protein 19

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109307575-109324931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109324890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 9 (P9L)

Ref Sequence

ENSEMBL: ENSMUSP00000075918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076617]

AlphaFold

Q8C2W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000076617
AA Change: P9L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075918
Gene: ENSMUSG00000074061
AA Change: P9L

Domain	Start	End	E-Value	Type
FBOX	5	45	1.8e-6	SMART
SCOP:d1gxra_	87	284	3e-5	SMART
Blast:WD40	137	176	8e-8	BLAST

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,820,078 (GRCm39)	N720K	probably benign	Het
Ampd1	C	T	3: 103,005,998 (GRCm39)	Q603*	probably null	Het
Arap2	G	A	5: 62,906,326 (GRCm39)	T231M	possibly damaging	Het
Atp2b4	TCT	TCTGCT	1: 133,629,463 (GRCm39)		probably benign	Het
Cap1	C	T	4: 122,761,516 (GRCm39)	R122Q	probably damaging	Het
Cdh10	G	A	15: 19,011,074 (GRCm39)	V586M	probably damaging	Het
Clvs2	A	T	10: 33,389,331 (GRCm39)	V303E	possibly damaging	Het
Cnnm3	C	A	1: 36,563,158 (GRCm39)	C707*	probably null	Het
Crtc3	A	G	7: 80,242,323 (GRCm39)	F497L	probably damaging	Het
Csmd3	T	C	15: 47,683,774 (GRCm39)	Y949C		Het
D5Ertd579e	A	T	5: 36,772,778 (GRCm39)	I539N	probably damaging	Het
Dctpp1	T	C	7: 126,856,456 (GRCm39)	R89G	probably damaging	Het
Dnah7c	T	A	1: 46,704,650 (GRCm39)	V2221E	probably damaging	Het
Dnah7c	C	A	1: 46,816,896 (GRCm39)	L3628I	probably benign	Het
E030025P04Rik	A	G	11: 109,034,738 (GRCm39)	F50S	unknown	Het
Edrf1	CGG	CG	7: 133,258,770 (GRCm39)		probably null	Het
Epb41l1	T	G	2: 156,364,487 (GRCm39)	S999A	probably benign	Het
Fbxw10	T	A	11: 62,738,153 (GRCm39)	C16S	possibly damaging	Het
Gpi1	A	T	7: 33,907,114 (GRCm39)	Y327N	probably damaging	Het
Hook3	A	G	8: 26,525,195 (GRCm39)	L637P	probably damaging	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Ighv1-56	T	A	12: 115,206,634 (GRCm39)	T47S	probably benign	Het
Iglc2	A	C	16: 19,017,294 (GRCm39)	C103G	probably damaging	Het
Mbd5	A	G	2: 49,148,102 (GRCm39)	T771A	possibly damaging	Het
Mcm2	C	A	6: 88,861,019 (GRCm39)	R893L	probably benign	Het
Mettl15	A	T	2: 109,104,948 (GRCm39)	V19E		Het
Mier2	G	A	10: 79,377,594 (GRCm39)	A453V		Het
Mlf1	T	C	3: 67,307,054 (GRCm39)	S255P	probably benign	Het
Obsl1	T	C	1: 75,482,636 (GRCm39)	D78G	possibly damaging	Het
Or5w14	T	A	2: 87,541,975 (GRCm39)	I92F	probably damaging	Het
Or8b55	T	A	9: 38,726,976 (GRCm39)	M59K	probably damaging	Het
Otof	T	C	5: 30,536,462 (GRCm39)	K1340E	probably benign	Het
Pla2g4c	A	G	7: 13,091,010 (GRCm39)	D589G	probably damaging	Het
Qrfpr	A	G	3: 36,235,156 (GRCm39)	V278A	probably damaging	Het
Qrich2	T	A	11: 116,347,272 (GRCm39)	H1184L	unknown	Het
Rnaset2a	A	G	17: 8,347,549 (GRCm39)	F250S	possibly damaging	Het
Sfrp5	T	C	19: 42,190,356 (GRCm39)	Y32C	probably damaging	Het
Slc44a3	A	G	3: 121,254,786 (GRCm39)	S611P	probably benign	Het
Slco1a1	C	A	6: 141,892,542 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,040,599 (GRCm39)	D225V	probably damaging	Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Trim7	T	A	11: 48,740,674 (GRCm39)	L257Q	probably damaging	Het
Trpm8	T	A	1: 88,312,423 (GRCm39)	N1101K	probably benign	Het
Unc79	C	T	12: 102,968,095 (GRCm39)	T107M	probably damaging	Het
Usp54	A	G	14: 20,631,523 (GRCm39)		probably null	Het
Zzef1	T	A	11: 72,756,946 (GRCm39)	Y1150*	probably null	Het

Other mutations in Fbxw19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Fbxw19	APN	9	109,322,614 (GRCm39)	missense	probably benign	0.03
IGL01878:Fbxw19	APN	9	109,312,347 (GRCm39)	splice site	probably benign
IGL02622:Fbxw19	APN	9	109,322,602 (GRCm39)	missense	probably benign	0.22
IGL02752:Fbxw19	APN	9	109,323,709 (GRCm39)	missense	probably benign	0.07
IGL02795:Fbxw19	APN	9	109,324,886 (GRCm39)	missense	possibly damaging	0.52
IGL03401:Fbxw19	APN	9	109,324,038 (GRCm39)	critical splice donor site	probably null
R0402:Fbxw19	UTSW	9	109,313,493 (GRCm39)	missense	probably benign	0.00
R0423:Fbxw19	UTSW	9	109,315,134 (GRCm39)	missense	probably benign	0.22
R0466:Fbxw19	UTSW	9	109,307,717 (GRCm39)	missense	probably benign	0.32
R0513:Fbxw19	UTSW	9	109,310,621 (GRCm39)	splice site	probably null
R1538:Fbxw19	UTSW	9	109,324,056 (GRCm39)	missense	probably damaging	1.00
R1768:Fbxw19	UTSW	9	109,323,840 (GRCm39)	nonsense	probably null
R1869:Fbxw19	UTSW	9	109,311,100 (GRCm39)	missense	probably benign	0.11
R1933:Fbxw19	UTSW	9	109,310,718 (GRCm39)	missense	probably benign	0.20
R1960:Fbxw19	UTSW	9	109,315,004 (GRCm39)	missense	probably benign
R2288:Fbxw19	UTSW	9	109,322,636 (GRCm39)	missense	probably damaging	0.99
R2877:Fbxw19	UTSW	9	109,315,038 (GRCm39)	missense	probably damaging	1.00
R2878:Fbxw19	UTSW	9	109,315,038 (GRCm39)	missense	probably damaging	1.00
R4778:Fbxw19	UTSW	9	109,323,714 (GRCm39)	missense	probably damaging	1.00
R5192:Fbxw19	UTSW	9	109,313,496 (GRCm39)	missense	probably benign	0.01
R5196:Fbxw19	UTSW	9	109,313,496 (GRCm39)	missense	probably benign	0.01
R5533:Fbxw19	UTSW	9	109,315,133 (GRCm39)	missense	probably benign	0.00
R6107:Fbxw19	UTSW	9	109,324,834 (GRCm39)	missense	probably damaging	1.00
R6333:Fbxw19	UTSW	9	109,323,751 (GRCm39)	missense	probably benign	0.01
R6820:Fbxw19	UTSW	9	109,311,079 (GRCm39)	missense	probably benign	0.07
R7631:Fbxw19	UTSW	9	109,311,069 (GRCm39)	missense	probably damaging	1.00
R7651:Fbxw19	UTSW	9	109,323,714 (GRCm39)	missense	probably damaging	1.00
R8669:Fbxw19	UTSW	9	109,313,482 (GRCm39)	missense	probably benign	0.26
R8678:Fbxw19	UTSW	9	109,312,376 (GRCm39)	nonsense	probably null
R9256:Fbxw19	UTSW	9	109,310,641 (GRCm39)	missense	probably damaging	0.99
R9324:Fbxw19	UTSW	9	109,313,440 (GRCm39)	missense	possibly damaging	0.57
R9393:Fbxw19	UTSW	9	109,324,873 (GRCm39)	missense	probably damaging	1.00
R9408:Fbxw19	UTSW	9	109,315,101 (GRCm39)	missense	probably benign
Z1176:Fbxw19	UTSW	9	109,310,650 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTCAGAGCTTAGTAGACAGG -3'
(R):5'- TGAGAGTCTACACAGCTGCAG -3'

Sequencing Primer
(F):5'- AGCTTAGTAGACAGGTCTGAATAAG -3'
(R):5'- GCTTGCTCCAACCAAAGGCTG -3'

Posted On

2021-12-30